Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	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
ZNF420	147923	broad.mit.edu	37	19	37618488	37618488	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:37618488G>A	ENST00000337995.3	+	5	810	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E199K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	199					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)			TGCATGTAAGGAATGTGGGAA	0.398000													24	68					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249075	22249075	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:22249075G>A	ENST00000324559.8	+	7	908	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	197						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						ATCGGCAGGAGCTCTTCCTCA	0.453000													28	52					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103969417	103969417	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:103969417G>A	ENST00000429436.2	+	18	2625	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	MARK3_ENST00000553942.1_Silent_p.G696G|MARK3_ENST00000416682.2_Silent_p.G704G|MARK3_ENST00000440884.3_Silent_p.G611G|MARK3_ENST00000335102.5_Silent_p.G728G|MARK3_ENST00000303622.9_Silent_p.G681G|MARK3_ENST00000216288.7_Silent_p.G665G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	705	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)			ACGGAGATGGGCACGCGGAGA	0.567000													19	40					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212007	26212007	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chrX:26212007G>A	ENST00000379034.1	+	2	193	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	15										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGTGAGAAACGCCAAGAGACC	0.577000													18	4					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089446	86089446	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:86089446G>A	ENST00000330753.4	+	2	2355	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E530K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	530					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)		GTCCAGCCATGAGCAGACGAC	0.577000													4	105					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109268475	109268475	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:109268475G>A	ENST00000370017.3	+	6	1237	c.960G>A	c.(958-960)gtG>gtA	p.V320V	FNDC7_ENST00000271311.2_Silent_p.V321V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	321	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGGTCTTTGTGAAGAGTGATG	0.468000													29	96					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126319277	126319277	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:126319277G>C	ENST00000334379.5	+	4	412	c.291G>C	c.(289-291)aaG>aaC	p.K97N	TRMT11_ENST00000450358.1_Missense_Mutation_p.K97N|TRMT11_ENST00000368332.3_Missense_Mutation_p.K97N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	97					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)		CTGTGGAGAAGATGGTGCGTA	0.358000													13	77					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421250	37421250	+	Missense_Mutation	SNP	C	C	T	rs61737413		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:37421250C>T	ENST00000374660.1	+	4	524	c.425C>T	c.(424-426)gCg>gTg	p.A142V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A142V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A142V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198						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						AATGCAAATGCGAATGCAGTT	0.299000													22	76					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315736	50315736	+	Silent	SNP	G	G	A	rs143117054	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:50315736G>A	ENST00000332853.3	-	2	383	c.360C>T	c.(358-360)tcC>tcT	p.S120S	VSTM4_ENST00000298454.3_Silent_p.S120S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	120	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCCTTGATCGGAGGGCTGCA	0.617000													4	76					0	0	1	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165019	30165019	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:30165019G>A	ENST00000436066.3	+	2	739	c.273G>A	c.(271-273)ccG>ccA	p.P91P	PLEKHF1_ENST00000592810.1_Silent_p.P91P	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	91	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGCTGTTGCCGGAGACGCTGC	0.592000													4	66					0	0	1	0	0
PCDHGB6	0	broad.mit.edu	37	5	140789302	140789302	+	Silent	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:140789302C>T	ENST00000520790.1	+	1	1533	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCAGAGCGGGGTGGTGT	0.662000													7	30					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336238	52336238	+	Silent	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:52336238C>T	ENST00000356297.4	-	14	1792	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	PXDNL_ENST00000543296.1_Silent_p.T564T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	564	Ig-like C2-type 4.				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)				AGATAGTCAGCGTGCCTTCAT	0.463000													12	25					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139661957	139661957	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:139661957T>C	ENST00000303045.6	-	46	3844	c.3398A>G	c.(3397-3399)gAc>gGc	p.D1133G	COL22A1_ENST00000435777.1_Missense_Mutation_p.D1113G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1133	Collagen-like 10.|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)			GACACCTTTGTCCCCTTTAAA	0.498000										HNSCC(7;0.00092)			26	52					0	0	1	0	0
TMPRSS2	0	broad.mit.edu	37	21	42840428	42840428	+	Silent	SNP	A	A	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr21:42840428A>C	ENST00000398585.3	-	12	1380	c.1320T>G	c.(1318-1320)ctT>ctG	p.L440L	TMPRSS2_ENST00000458356.1_Silent_p.L403L|TMPRSS2_ENST00000332149.5_Silent_p.L403L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	403	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCTCAATGAGAAGCACCTTGG	0.537000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								17	31					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913590	16913590	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:16913590C>T	ENST00000430580.2	-	11	1620	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	245	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAGAGGATTCTCTGTCTACA	0.438000													117	282					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183862680	183862680	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:183862680G>T	ENST00000273783.3	+	16	2237	c.2115G>T	c.(2113-2115)agG>agT	p.R705S	EIF2B5_ENST00000444495.1_Intron	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	705	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)			AGCTGCAGAGGTTCATCCAGT	0.542000													7	39					0.00307968	0.00320624	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20548593	20548593	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr16:20548593G>A	ENST00000329697.6	-	14	1889	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	574					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						CTGCGCACGGGCTTTTCCGGA	0.463000													5	252					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152850	117152850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:117152850C>T	ENST00000530849.1	+	10	1121	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Missense_Mutation_p.P526S|RNF214_ENST00000300650.4_Missense_Mutation_p.P526S|RNF214_ENST00000531287.1_Missense_Mutation_p.P371S			Q8ND24	RN214_HUMAN	ring finger protein 214	526							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)		TCCACACATGCCCCCTGCCGC	0.627000													4	130					0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24861593	24861593	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:24861593T>C	ENST00000412742.2	+	3	433	c.380T>C	c.(379-381)aTg>aCg	p.M127T	RCAN3_ENST00000374395.4_Silent_p.Y184Y|RCAN3_ENST00000538532.1_Silent_p.Y126Y|RCAN3_ENST00000374393.2_Missense_Mutation_p.M69T|RCAN3_ENST00000436717.2_Silent_p.Y174Y	NM_001251982.1	NP_001238911.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	127					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)		GAGAGAAATATGAACTTCACG	0.423000													8	21					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33586319	33586319	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr17:33586319G>T	ENST00000299977.4	+	2	758	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	SLFN5_ENST00000592325.1_Missense_Mutation_p.V204L|SLFN5_ENST00000542451.1_Missense_Mutation_p.V204L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	204					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)		CTCGACAGACGTGTCACACTG	0.408000													6	181					5.9392e-07	6.35745e-07	1	1	0
SAFB	6294	broad.mit.edu	37	19	5664408	5664408	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:5664408G>T	ENST00000292123.5	+	17	2399	c.2291_splice	c.e17-1	p.R764_splice	SAFB_ENST00000433404.1_Splice_Site_p.R594_splice|SAFB_ENST00000592224.1_Splice_Site_p.R763_splice|SAFB_ENST00000538656.1_Splice_Site_p.R606_splice|SAFB_ENST00000454510.1_Splice_Site_p.R695_splice|SAFB_ENST00000588852.1_Splice_Site_p.R764_splice	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	764	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)		GCCTTTTCAGGAGAGAAGGTT	0.448000													8	28					0.00448238	0.00460353	1	1	0
WRAP73	49856	broad.mit.edu	37	1	3548112	3548112	+	Silent	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:3548112C>T	ENST00000378322.3	-	11	1216	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	WRAP73_ENST00000270708.7_Silent_p.P386P			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	386						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGGCCAGCCGCGGCTGCTGCG	0.662000													7	12					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166218865	166218865	+	Silent	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr4:166218865A>G	ENST00000226725.6	+	7	1018	c.759A>G	c.(757-759)gaA>gaG	p.E253E	KLHL2_ENST00000506761.1_Silent_p.E87E|KLHL2_ENST00000538127.1_Silent_p.E165E|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Silent_p.E257E|KLHL2_ENST00000421009.2_Silent_p.E156E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	253					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTCCTCGGGAATATTTAGTTC	0.443000													5	67					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917530	186917530	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:186917530A>C	ENST00000312295.4	+	2	494	c.464A>C	c.(463-465)gAc>gCc	p.D155A	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	155					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)		GGCCTGGTGGACAACCTCATC	0.677000													6	29					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14772196	14772196	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:14772196G>C	ENST00000261170.3	-	24	2960	c.2824C>G	c.(2824-2826)Cta>Gta	p.L942V	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	942	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTCCAAATAGACAATAACGA	0.473000													5	109					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	56					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11963959	11963959	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:11963959G>A	ENST00000339865.5	+	19	2950	c.2187G>A	c.(2185-2187)cgG>cgA	p.R729R	USP47_ENST00000399455.2_Silent_p.R817R|USP47_ENST00000527733.1_Silent_p.R797R|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	817					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCCTGGATCGGCATGCAAATA	0.413000													4	143					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67755708	67755708	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:67755708A>G	ENST00000396596.1	+	14	1214	c.1000A>G	c.(1000-1002)Aga>Gga	p.R334G	SGK3_ENST00000345714.4_Missense_Mutation_p.R334G|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R334G|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000522398.1_Missense_Mutation_p.R334G|SGK3_ENST00000521198.2_Missense_Mutation_p.R334G|SGK3_ENST00000521435.1_3'UTR	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	334	Protein kinase.				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)			TGAAGTAATTAGAAAACAGCC	0.313000													6	70					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158495667	158495667	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:158495667G>A	ENST00000355585.4	+	16	2264	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R730H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R730H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	730							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)		TTCAACTACCGCATTGATCTT	0.358000													4	71					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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)			ACGGAAAAACTCACCATCCCC	0.502000													5	118					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17089577	17089577	+	Silent	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:17089577A>G	ENST00000377833.4	-	23	3230	c.3165T>C	c.(3163-3165)gaT>gaC	p.D1055D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1055	CUB 6.				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)	ATGTCCCCAAATCATCTGTGT	0.373000													11	55					0	0	1	0	0
RAB24	53917	broad.mit.edu	37	5	176730101	176730101	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:176730101G>A	ENST00000303270.6	-	1	610	c.8C>T	c.(7-9)cCg>cTg	p.P3L	RAB24_ENST00000303251.6_Intron|RAB24_ENST00000393611.2_Intron			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	0					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)			GGAAGAGATCGGGGCCATAGG	0.627000													5	9					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118464315	118464315	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:118464315G>C	ENST00000359415.4	+	9	1431	c.1266G>C	c.(1264-1266)tgG>tgC	p.W422C	ARCN1_ENST00000392859.3_Missense_Mutation_p.W293C|ARCN1_ENST00000264028.4_Missense_Mutation_p.W381C|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	381	MHD.				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)		TTAATTGCTGGCCCTCGGAGA	0.448000													8	43					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444283	26444283	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:26444283A>G	ENST00000244519.2	+	4	427	c.184A>G	c.(184-186)Acc>Gcc	p.T62A	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T20A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T20A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	62	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAGTGCAGAGACCATGGAGCT	0.572000													20	85					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121293158	121293158	+	Splice_Site	SNP	A	A	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:121293158A>T	ENST00000297848.3	+	31	3955		c.e31-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTTTTTTAGGATTTAAGA	0.269000													4	27					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670606	134670606	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:134670606T>G	ENST00000398015.3	+	3	887	c.517T>G	c.(517-519)Ttt>Gtt	p.F173V	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	173						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCGGAATGGTTTTTACCTCGC	0.463000													9	164					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43819450	43819450	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:43819450A>T	ENST00000389420.3	-	28	4150	c.4151T>A	c.(4150-4152)aTa>aAa	p.I1384K	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.I502K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I1384K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1384	TSP type-1 10.					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)		AAATTGACATATTACAAGTCT	0.348000													5	20					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598088	46598088	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:46598088G>A	ENST00000398637.5	-	11	1512	c.818C>T	c.(817-819)tCa>tTa	p.S273L	SLC38A1_ENST00000552197.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549633.1_5'UTR	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	273					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)			ACTTACCTTTGAATTGAAGGT	0.333000													48	102					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39381357	39381357	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:39381357A>G	ENST00000289248.2	-	3	1280	c.272T>C	c.(271-273)gTg>gCg	p.V91A	RHBDL2_ENST00000372985.3_Missense_Mutation_p.V171A|RHBDL2_ENST00000372990.1_Missense_Mutation_p.V91A|RHBDL2_ENST00000538156.1_Missense_Mutation_p.V158A|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.V91A			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	91					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGCTTCCACACAGCATAGTA	0.517000													18	47					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511168	56511168	+	Silent	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:56511168C>T	ENST00000302957.3	-	1	119	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATAGAATCGGCTGCCACT	0.443000													6	66					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183996103	183996103	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:183996103T>C	ENST00000402825.3	+	6	1104		c.e6+2		ECE2_ENST00000359140.4_Splice_Site|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Splice_Site|ECE2_ENST00000404464.3_Splice_Site	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						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)			GTTATCCAGGTGATGAGCTGG	0.582000													10	45					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140530025	140530025	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:140530025G>A	ENST00000231136.1	+	1	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		63	Cadherin 1.				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)			TTCGCGGGGCGCTCGGGTTGT	0.517000													21	66					0	0	1	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204481	10204481	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:10204481C>T	ENST00000253109.4	-	4	1077	c.839G>A	c.(838-840)cGt>cAt	p.R280H	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R280H|ANGPTL6_ENST00000589181.1_Intron	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	280	Fibrinogen C-terminal.				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)			CACTACGTGACGGCCCACTCG	0.597000													35	86					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461551	154461551	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:154461551C>T	ENST00000304760.2	-	3	1086	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	334										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			ACGATCTGCTCCTTCTTCCAC	0.667000													4	59					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126319702	126319702	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:126319702G>A	ENST00000334379.5	+	6	515	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	TRMT11_ENST00000450358.1_Missense_Mutation_p.E132K|TRMT11_ENST00000368332.3_Missense_Mutation_p.E132K	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	132					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)		TTAGGCACTTGAATTTCTGCC	0.338000													16	79					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56126355	56126355	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:56126355A>G	ENST00000275603.4	+	8	1147	c.928A>G	c.(928-930)Ata>Gta	p.I310V	CCT6A_ENST00000335503.3_Missense_Mutation_p.I265V|CCT6A_ENST00000540286.1_Missense_Mutation_p.I279V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	310					'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)			AAAAGAAGGCATAGTTGCTCT	0.338000													4	67					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	44					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													3	49					0.00909568	0.00921696	1	1	0
ABCC9	10060	broad.mit.edu	37	12	21971146	21971146	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:21971146C>T	ENST00000261200.4	-	30	3708	c.3709G>A	c.(3709-3711)Gca>Aca	p.A1237T	ABCC9_ENST00000345162.2_Missense_Mutation_p.A1201T|ABCC9_ENST00000261201.4_Missense_Mutation_p.A1237T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1237	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)	CTAATGGATGCTATAGATGCA	0.388000													19	64					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055483	40055483	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:40055483G>A	ENST00000336649.4	+	16	2394	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	CACNA1I_ENST00000407673.1_Silent_p.T757T|CACNA1I_ENST00000404898.1_Silent_p.T757T|CACNA1I_ENST00000402142.3_Silent_p.T792T|CACNA1I_ENST00000400164.3_Silent_p.T757T|CACNA1I_ENST00000401624.1_Silent_p.T792T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	792					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)	GCCTCCGCACGGACACTGGAG	0.562000													6	9					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022289	96022289	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:96022289A>T	ENST00000260766.3	+	14	4487	c.3853A>T	c.(3853-3855)Att>Ttt	p.I1285F	PLCE1_ENST00000371375.1_Missense_Mutation_p.I977F|PLCE1_ENST00000371385.3_Missense_Mutation_p.I977F|PLCE1_ENST00000371380.2_Missense_Mutation_p.I1285F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1285					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)				GGGGTTGTTCATTAAGAGTAA	0.438000													7	137					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8203370	8203370	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:8203370C>A	ENST00000600128.1	-	9	1358	c.944G>T	c.(943-945)aGg>aTg	p.R315M	FBN3_ENST00000270509.2_Missense_Mutation_p.R315M|FBN3_ENST00000601739.1_Missense_Mutation_p.R315M			Q75N90	FBN3_HUMAN	fibrillin 3	315	TB 2.					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						GCAGCACTGCCTGCGAGTGTA	0.662000													3	23					0.115264	0.115264	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41009956	41009956	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:41009956C>T	ENST00000352632.3	+	12	1668	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R528W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R528W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	528					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)			GGGTGCCCGGCGGACACGACT	0.647000													9	26					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31851272	31851272	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:31851272G>C	ENST00000397525.1	-	9	1352	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q377E|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q214E|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q56E|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q377E|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	377						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						CCCGAGTTCTGTCCAGGAGAG	0.378000													3	51					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47639666	47639666	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr2:47639666G>A	ENST00000406134.1	+	4	821	c.759G>A	c.(757-759)atG>atA	p.M253I	MSH2_ENST00000543555.1_Missense_Mutation_p.M187I|MSH2_ENST00000233146.2_Missense_Mutation_p.M253I			P43246	MSH2_HUMAN	mutS homolog 2	253					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAGCAGATGAATAGTGCTG	0.313000			"""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				15	46					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38708932	38708932	+	RNA	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr2:38708932A>G	ENST00000417039.1	-	0	696																											CTCGCCAGGCATCCTCGTGGA	0.577000													3	8					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140158862	140158862	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:140158862C>T	ENST00000255977.2	-	4	940	c.716G>A	c.(715-717)tGt>tAt	p.C239Y	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.C239Y|MKRN1_ENST00000474576.1_Missense_Mutation_p.C175Y	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	239	Makorin-type Cys-His.						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)					CTGCAGCCCACACATGTCACA	0.507000													8	77					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820829	2820829	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:2820829G>A	ENST00000602557.1	-	61	9927	c.9372C>T	c.(9370-9372)tgC>tgT	p.C3124C	CSMD1_ENST00000400186.3_Silent_p.C2947C|CSMD1_ENST00000542608.1_Silent_p.C2946C|CSMD1_ENST00000537824.1_Silent_p.C3123C|CSMD1_ENST00000602723.1_Silent_p.C2947C|CSMD1_ENST00000520002.1_Silent_p.C3124C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3124	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACCGTCCATGCAGCTGTAAC	0.572000													9	66					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76995224	76995224	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr15:76995224T>A	ENST00000538941.2	-	19	2568	c.1629A>T	c.(1627-1629)gaA>gaT	p.E543D	SCAPER_ENST00000563290.1_Missense_Mutation_p.E789D|SCAPER_ENST00000324767.7_Missense_Mutation_p.E789D	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	788	Glu-rich.					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						GCTTCTTTCTTTCATAAGGGG	0.378000													30	65					0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709995	19709995	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:19709995G>A	ENST00000455784.2	+	12	1223	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	SEPT5_ENST00000438754.2_3'UTR|SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000383045.3_Missense_Mutation_p.M375I	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	366					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)					AGCAGCAGATGCAGGACCAGT	0.697000													4	11					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													4	99					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104725345	104725345	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:104725345A>C	ENST00000526691.1	+	12	1738	c.1282A>C	c.(1282-1284)Act>Cct	p.T428P	TXNRD1_ENST00000429002.2_Missense_Mutation_p.T526P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.T491P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.T420P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.T428P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.T376P|TXNRD1_ENST00000540716.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000529546.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.T445P|TXNRD1_ENST00000525566.1_Missense_Mutation_p.T526P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.T376P|TXNRD1_ENST00000503506.2_Missense_Mutation_p.T376P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.T420P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.T426P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.T475P	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	526					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						CACTGTATTTACTCCTTTGGA	0.348000													5	11					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645555	38645555	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:38645555C>T	ENST00000413689.1	-	12	1731	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	SCN5A_ENST00000414099.2_Missense_Mutation_p.R513H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R513H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R513H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R513H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R513H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R513H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R513H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R513H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R513H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	513					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)	GCTGAGGCCACGGGTGAGGCT	0.552000													7	8					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678810	43678810	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:43678810C>G	ENST00000374466.3	+	8	1784	c.1449C>G	c.(1447-1449)caC>caG	p.H483Q		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	483					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						GTCTTTTCCACCTCTGGCATG	0.507000													4	123					0	0	1	0	0
ANXA5	308	broad.mit.edu	37	4	122602847	122602847	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr4:122602847T>C	ENST00000296511.5	-	6	658	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	ANXA5_ENST00000501272.2_Missense_Mutation_p.I65V|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	125					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ACTTGTTTGATGGCTCTCAGT	0.358000													4	52					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325728	1325728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:1325728delA	ENST00000400809.3	-	8	893	c.888delT	c.(886-888)ggfs	p.G296fs	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Frame_Shift_Del_p.G74fs	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	296					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCCACTTCACCCTCCAGGT	0.527													54	85	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					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)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	100	---	---	---	---					
EEFSEC	60678	broad.mit.edu	37	3	127965801	127965801	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:127965801delA	ENST00000254730.6	+	2	493	c.439delA	c.(439-441)aafs	p.K147fs	EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.K147fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	147						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGTGCTGAACAAAATAGACCT	0.493													47	150	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													8	14	---	---	---	---					
TYSND1	219743	broad.mit.edu	37	10	71906164	71906164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:71906164delC	ENST00000287078.6	-	1	178	c.179delG	c.(178-180)gcfs	p.G60fs	TYSND1_ENST00000335494.5_Frame_Shift_Del_p.G60fs	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	60					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GACTTCGCTGCCAGCTCGCAG	0.721													2	4	---	---	---	---					
MBIP	51562	broad.mit.edu	37	14	36781227	36781227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:36781227delT	ENST00000416007.4	-	5	662	c.575delA	c.(574-576)atfs	p.N192fs	MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Frame_Shift_Del_p.N192fs|MBIP_ENST00000359527.7_Frame_Shift_Del_p.N192fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	192	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)		TGCACAACTATTTTCTAAGGA	0.303													32	66	---	---	---	---					
AC007204.2	0	broad.mit.edu	37	19	20067365	20067367	+	RNA	DEL	AGG	AGG	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:20067365_20067367delAGG	ENST00000592245.1	+	0	72																											AAGCTGGGCAAGGAGAACTCGGG	0.621													3	5	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													3	5	---	---	---	---