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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GCN1L1	10985	broad.mit.edu	37	12	120574381	120574381	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:120574381G>A	uc001txo.3	-	50	6946	c.6933C>T	c.(6931-6933)atC>atT	p.I2311I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2311					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)					CCAGGATGCGGATCAGAGGGC	0.592000														32			13		0	0	0.00136819	0	0
CSMD1	64478	broad.mit.edu	37	8	2818684	2818684	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:2818684C>T	uc022aqr.1	-	61	10071	c.9681G>A	c.(9679-9681)caG>caA	p.Q3227Q	CSMD1_uc011kwj.2_Silent_p.Q2557Q|CSMD1_uc010lrg.3_Silent_p.Q1119Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3228	Sushi 27.					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)		TGGAGCTATTCTGTATTCCAA	0.348000														33			22		0	0	0.00106085	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123122545	123122545	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:123122545A>G	uc003pzg.3	+	3	1083	c.562A>G	c.(562-564)Agg>Ggg	p.R188G	SMPDL3A_uc003pzh.3_Missense_Mutation_p.R57G	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3A (SMPDL3A), mRNA.	188					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)		TAGTACTTTAAGGAAAGGTAA	0.363000														51			21		0	0	0.00152264	0	0
MARK3	4140	broad.mit.edu	37	14	103946816	103946816	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:103946816C>T	uc001ymz.4	+	13	2241	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	MARK3_uc001ymx.4_Silent_p.G525G|MARK3_uc001ymw.4_Silent_p.G525G|MARK3_uc001yna.4_Silent_p.G509G|MARK3_uc001ymy.4_Silent_p.G446G|MARK3_uc010awp.3_Silent_p.G548G|MARK3_uc010tyb.2_Silent_p.G320G|MARK3_uc010awq.3_Silent_p.G55G	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	525							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)			TTCAGAATGGCAAAGAAAACA	0.358000														22			61		0	0	0.000781405	0	0
NEK2	4751	broad.mit.edu	37	1	211842553	211842553	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:211842553G>A	uc001hir.2	-	5	1038	c.887C>T	c.(886-888)tCg>tTg	p.S296L	NEK2_uc021piq.1_Missense_Mutation_p.S296L|NEK2_uc021pir.1_Missense_Mutation_p.S46L|NEK2_uc001his.4_Missense_Mutation_p.S296L|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	296	Interaction with PCNT.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GGAATCCTGCGATTTTTCTGG	0.443000														100			42		0	0	0.00148497	0	0
MAGEC3	139081	broad.mit.edu	37	X	140953391	140953391	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:140953391G>A	uc011mwp.2	+	2	258	c.258_splice	c.e2+1	p.K86_splice		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	86										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)					CATACTTCAAGGTAAGGACTC	0.537000														15			26		0	0	0.000339439	0	0
C1R	715	broad.mit.edu	37	12	7187920	7187920	+	Silent	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:7187920G>T	uc010sfy.2	-	8	1859	c.1800C>A	c.(1798-1800)atC>atA	p.I600I		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	678	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)	TGCTGCACCCGATGCCCCAGG	0.577000														31			13		1.3612e-06	1.05328e-05	0.000308642	1	0
EXPH5	23086	broad.mit.edu	37	11	108382857	108382857	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:108382857G>A	uc001pkk.3	-	5	3488	c.3377C>T	c.(3376-3378)cCc>cTc	p.P1126L	EXPH5_uc010rvz.2_Missense_Mutation_p.P970L|EXPH5_uc010rvy.2_Missense_Mutation_p.P938L	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1126					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)		CTCCCCTGAGGGACATGACAT	0.483000														35			27		0	0	0.00106085	0	0
KIF18A	81930	broad.mit.edu	37	11	28104458	28104458	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:28104458C>T	uc001msc.2	-	8	1389	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	403					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin 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						TGGTCATTTTCATTAGTGAAG	0.274000														47			13		0	0	0.000308642	0	0
SLC39A11	201266	broad.mit.edu	37	17	70644968	70644968	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:70644968G>A	uc002jjb.3	-	8	1039	c.924C>T	c.(922-924)gaC>gaT	p.D308D	SLC39A11_uc002jja.3_Silent_p.D301D	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	308					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGATGATGTCGTCCATGACCA	0.617000														16			6		0	0	0.000274275	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041332	234041332	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:234041332G>A	uc001hvy.1	+	1	256	c.111G>A	c.(109-111)caG>caA	p.Q37Q		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	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)			TCAGCCCCCAGCTCCGGCAGC	0.672000														12			16		0	0	0.000308642	0	0
SERPINA3	12	broad.mit.edu	37	14	95085667	95085667	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:95085667C>T	uc001ydp.3	+	2	938	c.779C>T	c.(778-780)tCc>tTc	p.S260F	SERPINA3_uc001ydo.4_Missense_Mutation_p.S285F|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.S260F|SERPINA3_uc001yds.3_Missense_Mutation_p.S260F	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	260					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)		GAGGAGCTGTCCTGCACCGTG	0.517000														10			16		0	0	0.000308642	0	0
HK2	3099	broad.mit.edu	37	2	75101035	75101035	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:75101035A>T	uc002snd.3	+	5	2582	c.656A>T	c.(655-657)tAt>tTt	p.Y219F		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	219	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						ACCTGTGGTTATGATGACCAC	0.532000														31			6		0	0	8.12818e-05	0	0
PRDM9	56979	broad.mit.edu	37	5	23527498	23527498	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:23527498G>A	uc003jgo.3	+	10	2483	c.2301G>A	c.(2299-2301)caG>caA	p.Q767Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	767					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						TCAGACACCAGAGGACACACA	0.582000										HNSCC(3;0.000094)				33			39		0	0	0.000509022	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656570	40656570	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:40656570G>A	uc002rrx.3	-	0	875	c.851C>T	c.(850-852)tCt>tTt	p.S284F	SLC8A1_uc002rry.3_Missense_Mutation_p.S284F|SLC8A1_uc002rsb.2_Missense_Mutation_p.S284F|SLC8A1_uc002rrz.3_Missense_Mutation_p.S284F|SLC8A1_uc002rsa.3_Missense_Mutation_p.S284F|SLC8A1_uc002rsd.4_Missense_Mutation_p.S284F|SLC8A1_uc010fan.1_Missense_Mutation_p.S284F|SLC8A1_uc002rsc.1_Missense_Mutation_p.S284F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	284					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)	AGTCTTAGAAGATGGCCTGTC	0.443000														142			69		0	0	0.000781405	0	0
NCF1B	654816	broad.mit.edu	37	7	72640036	72640036	+	Silent	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:72640036T>C	uc011ker.1	+	3	350	c.273T>C	c.(271-273)ctT>ctC	p.L91L	FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron					Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA.																		CCCACCTCCTTGACTTCTTCA	0.627000														21			4		0	0	0.000602214	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43826984	43826984	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:43826984G>A	uc001zrw.3	-	30	4394	c.4190C>T	c.(4189-4191)aCt>aTt	p.T1397I	PPIP5K1_uc021sjw.1_Missense_Mutation_p.T1372I|PPIP5K1_uc001zrx.2_Missense_Mutation_p.T1370I|PPIP5K1_uc001zry.4_Missense_Mutation_p.T1372I|PPIP5K1_uc021sjx.1_Missense_Mutation_p.T326I	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1397					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GATCGCAGAAGTCTCCTGGGC	0.547000														50			24		0	0	0.000295444	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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					17			73		0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	33840330	33840330	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:33840330G>A	uc001zhi.3	+	9	811	c.741_splice	c.e9-1	p.R247_splice	RYR3_uc010bar.3_Splice_Site_p.R247_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	247	MIR 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)		TCTGCTCACAGGAGGATATTC	0.552000														11			4		0	0	0.000602214	0	0
UNC93B1	81622	broad.mit.edu	37	11	67770569	67770569	+	Silent	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:67770569G>T	uc001omw.1	-	2	395	c.315C>A	c.(313-315)ccC>ccA	p.P105P		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	105					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGTCGATGTCGGGCAGCCCCA	0.622000														20			5		0.00116845	0.00882654	0.00116845	1	0
GPR148	344561	broad.mit.edu	37	2	131487495	131487495	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:131487495C>T	uc002trv.2	+	0	853	c.771C>T	c.(769-771)tcC>tcT	p.S257S		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	257						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)					AGGGCTATTCCCGGGCCAGGG	0.572000														50			27		0	0	0.00127121	0	0
COL3A1	1281	broad.mit.edu	37	2	189855034	189855034	+	Splice_Site	SNP	G	A	A	rs121912927		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:189855034G>A	uc002uqj.1	+	10	862	c.745_splice	c.e10-1	p.G249_splice	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	249	Triple-helical region.		G -> D (in EDS4).|G -> V (in EDS4).		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)	TATTTTTAGGGTATCAAAGGT	0.328000														19			14		0	0	0.000566183	0	0
OR52H1	390067	broad.mit.edu	37	11	5566278	5566278	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:5566278C>T	uc010qzh.2	-	0	476	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(2)		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)		GCAGAAGCTTCGAAAGGAGAT	0.463000														28			16		0	0	0.000422831	0	0
NYAP2	57624	broad.mit.edu	37	2	226447505	226447505	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:226447505G>A	uc002voe.2	+	3	1547	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.D228N	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	458	Pro-rich.																TCCCCCTTACGACGCTGTGCA	0.627000														27			15		0	0	0.000566183	0	0
BAG6	7917	broad.mit.edu	37	6	31612752	31612752	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:31612752G>A	uc003nvg.4	-	9	1672	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	BAG6_uc003nvf.4_Missense_Mutation_p.P447L|BAG6_uc003nvi.4_Missense_Mutation_p.P447L|BAG6_uc003nvh.4_Missense_Mutation_p.P447L|BAG6_uc011dnw.2_Missense_Mutation_p.P447L|BAG6_uc011dnx.2_Missense_Mutation_p.P447L	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	453	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATGACCACGGGTTCCACACT	0.597000														220			76		0	0	0.000781405	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909741	7909741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:7909741G>A	uc002gjt.2	+	3	1161	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	363					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGGCGTGGCAGAAGCGCGGGC	0.662000														27			25		0	0	0.00178596	0	0
MYO9A	4649	broad.mit.edu	37	15	72190602	72190602	+	Silent	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:72190602T>C	uc002atl.4	-	24	4715	c.4242A>G	c.(4240-4242)tcA>tcG	p.S1414S	MYO9A_uc010biq.3_Silent_p.S1034S|MYO9A_uc002atn.1_Silent_p.S1395S|MYO9A_uc002atk.3_Silent_p.S138S|MYO9A_uc002atm.1_Silent_p.S138S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1414	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|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						GTAGACTATTTGAAATGAAGG	0.388000														21			25		0	0	0.00106085	0	0
TMEM225	338661	broad.mit.edu	37	11	123755310	123755310	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:123755310G>A	uc001pzi.3	-	1	423	c.215C>T	c.(214-216)tCg>tTg	p.S72L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	72						integral to membrane		p.S72S(2)|p.T71T(1)|p.T71M(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCAAGGCTCGACGTCATCAT	0.408000														32			26		0	0	0.000720815	0	0
MTR	4548	broad.mit.edu	37	1	236995338	236995338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:236995338C>T	uc001hyi.4	+	12	1571	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	MTR_uc010pxw.2_Intron|MTR_uc010pxx.2_Missense_Mutation_p.S383L|MTR_uc010pxy.2_Missense_Mutation_p.S383L	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	383	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)	GTTGCAGGATCAAGGAAGTTT	0.428000														43			29		0	0	0.000409698	0	0
XPO1	7514	broad.mit.edu	37	2	61724052	61724052	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:61724052C>A	uc010ypn.2	-	10	979	c.850G>T	c.(850-852)Gta>Tta	p.V284L	XPO1_uc010fcl.3_Missense_Mutation_p.V280L|XPO1_uc002sbj.3_Missense_Mutation_p.V284L|XPO1_uc002sbk.3_5'UTR|XPO1_uc002sbh.3_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	284	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			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)			AATAGTGTTACAAATTGTTCT	0.328000			Mis		CLL									29			8		1.12685e-05	8.64926e-05	0.000274275	1	0
ESYT1	23344	broad.mit.edu	37	12	56532030	56532030	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:56532030C>A	uc001sjr.3	+	20	2459	c.2341C>A	c.(2341-2343)Cgt>Agt	p.R781S	ESYT1_uc001sjq.3_Missense_Mutation_p.R771S	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	771						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTCACCCCCCGTCCCACTGC	0.602000														88			5		0.000602214	0.00457332	0.000602214	1	0
PKIA	5569	broad.mit.edu	37	8	79510635	79510635	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:79510635A>G	uc003yba.3	+	2	540	c.16A>G	c.(16-18)Act>Gct	p.T6A	PKIA_uc003ybb.3_Missense_Mutation_p.T6A|PKIA_uc010lzo.3_Missense_Mutation_p.T6A	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	6							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						TGATGTGGAAACTACATATGC	0.358000														68			27		0	0	0.000339439	0	0
PREX2	80243	broad.mit.edu	37	8	69129884	69129884	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:69129884C>T	uc003xxv.1	+	37	4665	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1546					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.A1545A(1)		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						AGCAAGCCATCATTCTGGCCA	0.547000														22			10		0	0	0.000978159	0	0
XIRP2	129446	broad.mit.edu	37	2	168101760	168101760	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:168101760G>A	uc002udx.3	+	8	3947	c.3858G>A	c.(3856-3858)gaG>gaA	p.E1286E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.E1111E|XIRP2_uc010fpq.3_Silent_p.E1064E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1111					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						CTTTAGATGAGATTAAAGAAG	0.373000														53			34		0	0	0.000491102	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75377988	75377988	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:75377988G>A	uc010tux.2	-	5	1155	c.627C>T	c.(625-627)agC>agT	p.S209S	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_5'Flank|RPS6KL1_uc021rwp.1_Silent_p.S178S|RPS6KL1_uc001xqy.1_Silent_p.S209S	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	209	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TGGAGTCCTCGCTCACAAAGT	0.607000														27			16		0	0	0.00074312	0	0
LAMA2	3908	broad.mit.edu	37	6	129637213	129637213	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:129637213C>T	uc021zfb.1	+	26	4060	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.R1319*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.R1319*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1319	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGATGATCCTCGAGTCCATAG	0.348000														24			27		0	0	0.00058488	0	0
ACSF2	80221	broad.mit.edu	37	17	48540791	48540791	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:48540791C>T	uc010wmm.1	+	8	1103	c.999C>T	c.(997-999)ccC>ccT	p.P333P	ACSF2_uc002iqu.2_Silent_p.P308P|ACSF2_uc010wml.1_Silent_p.P265P|ACSF2_uc010wmn.1_Silent_p.P295P|ACSF2_uc010wmo.1_Silent_p.P148P	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	308					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)			TGCCCAACCCCCTGTACCATT	0.582000														31			13		0	0	0.00185496	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948468	82948468	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:82948468C>T	uc003kim.3	-	1	347	c.276G>A	c.(274-276)gtG>gtA	p.V92V	HAPLN1_uc003kin.3_Silent_p.V92V	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	92	Ig-like V-type.				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)		CAAAAACATCCACTTCCTTGA	0.433000														48			43		0	0	0.000589545	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642817	1642817	+	Silent	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:1642817A>G	uc009ycy.1	-	2	489	c.402T>C	c.(400-402)ggT>ggC	p.G134G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	229	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGACCCACAACCTGAGGAGG	0.612000														89			8		0	0	0.000673444	0	0
TRIM15	89870	broad.mit.edu	37	6	30131816	30131816	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:30131816C>T	uc010jrx.3	+	0	834	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	119					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGTGGGGTTCCTGGACGAGGC	0.587000														25			10		0	0	0.00136819	0	0
PREX2	80243	broad.mit.edu	37	8	68965372	68965372	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:68965372G>A	uc003xxv.1	+	8	1011	c.984G>A	c.(982-984)tgG>tgA	p.W328*	PREX2_uc003xxu.1_Nonsense_Mutation_p.W328*|PREX2_uc011lez.1_Nonsense_Mutation_p.W263*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	328	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.G327R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTAATGGATGGAAGATACATA	0.318000														56			37		0	0	0.00195071	0	0
LIPI	149998	broad.mit.edu	37	21	15537607	15537607	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:15537607C>T	uc002yjm.3	-	5	911	c.901G>A	c.(901-903)Gat>Aat	p.D301N	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.D250N|LIPI_uc021whh.1_Missense_Mutation_p.D280N|LIPI_uc021whi.1_Missense_Mutation_p.D115N|LIPI_uc021whj.1_Missense_Mutation_p.D280N|LIPI_uc021whe.1_Splice_Site_p.D245_splice|LIPI_uc021whf.1_Missense_Mutation_p.D280N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	280					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTCTTGTAATCTTTGTATGAA	0.343000														34			27		0	0	0.000878237	0	0
PPL	5493	broad.mit.edu	37	16	4934437	4934437	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:4934437C>T	uc002cyd.1	-	21	4309	c.4219G>A	c.(4219-4221)Gag>Aag	p.E1407K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1407					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						CGCTCGCGCTCTAGCTCCTCC	0.697000														25			23		0	0	0.000375601	0	0
CD1C	911	broad.mit.edu	37	1	158263023	158263023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:158263023G>A	uc001fru.3	+	4	1203	c.911G>A	c.(910-912)tGg>tAg	p.W304*	CD1C_uc021pbl.1_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	304					T cell activation involved in immune response|antigen processing and presentation	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)					TCCATGAATTGGATTGCCTTG	0.393000														147			94		0	0	0.000781405	0	0
C12orf60	144608	broad.mit.edu	37	12	14976313	14976313	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:14976313C>T	uc001rcj.4	+	1	648	c.444C>T	c.(442-444)atC>atT	p.I148I	C12orf60_uc021qvq.1_Silent_p.I148I	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	148										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AATTCCCCATCATGAATCTTC	0.423000														47			12		0	0	0.000978159	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408500	105408500	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:105408500C>T	uc010axc.1	-	6	13408	c.13288G>A	c.(13288-13290)Gag>Aag	p.E4430K	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E4330K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4430						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)			ATGTCCACCTCCATGCTGGGC	0.607000														14			47		0	0	0.000589545	0	0
RFX6	222546	broad.mit.edu	37	6	117244339	117244339	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:117244339G>A	uc003pxm.3	+	13	1570	c.1507G>A	c.(1507-1509)Ggt>Agt	p.G503S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	503					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						GAGTTTTTTTGGTGCTCGAGT	0.323000														46			22		0	0	0.00152264	0	0
KLK15	55554	broad.mit.edu	37	19	51330151	51330151	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:51330151C>T	uc002ptl.3	-	2	495	c.464G>A	c.(463-465)gGg>gAg	p.G155E	KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Missense_Mutation_p.G155E|KLK15_uc002pto.3_Missense_Mutation_p.G154E|KLK15_uc010ych.2_Intron|KLK15_uc010yci.2_Missense_Mutation_p.G154E|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	155	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)		CCGGGGGCTCCCAGCGGTCCC	0.692000														5			15		0	0	0.000308642	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748616	125748616	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:125748616A>G	uc011lzh.2	+	3	642	c.508A>G	c.(508-510)Atg>Gtg	p.M170V	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.M170V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	170	PID.				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						AGCCTTAAGGATGATGTCCAT	0.468000														30			73		0	0	0.000781405	0	0
MMP16	4325	broad.mit.edu	37	8	89128811	89128811	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:89128811G>A	uc003yeb.4	-	5	1290	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	336					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P336A(1)		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						GTTTGGCTCCGGGATAGGAGG	0.498000														78			12		0	0	0.00136819	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:31539946C>T	uc002ecj.3	+	2	328	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000														15			12		0	0	0.000308642	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381350	55381350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:55381350G>A	uc003pcn.3	-	4	598	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.R117C|HMGCLL1_uc010jzx.3_Missense_Mutation_p.R18C|HMGCLL1_uc011dxc.2_Intron|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	147							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)			ACAGGATAGCGAACTCCTGGA	0.343000														55			46		0	0	0.000781405	0	0
LUZP2	338645	broad.mit.edu	37	11	24753676	24753676	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:24753676G>A	uc001mqs.3	+	2	467	c.193G>A	c.(193-195)Gat>Aat	p.D65N	LUZP2_uc009yif.3_5'UTR|LUZP2_uc009yig.3_Missense_Mutation_p.D65N	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	65						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTAAAAAACGATGAGCAGTC	0.338000														11			11		0	0	0.00185496	0	0
ASH1L	55870	broad.mit.edu	37	1	155330170	155330170	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:155330170G>A	uc009wqq.3	-	12	7212	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L	ASH1L_uc001fkt.3_Silent_p.L2239L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2244	SET.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|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)			TAAGAGCATAGAGTCCAATCC	0.363000														48			29		0	0	0.00058488	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049977	42049977	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:42049977G>A	uc001cgz.4	-	3	1705	c.492C>T	c.(490-492)ttC>ttT	p.F164F	HIVEP3_uc001cha.4_Silent_p.F164F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	164					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.F164F(2)		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)				GACGAGGCACGAAGACTTTGG	0.597000														85			28		0	0	0.001512	0	0
OR11H12	440153	broad.mit.edu	37	14	19378043	19378043	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:19378043C>T	uc010tkp.2	+	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	150					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)		ATCCTAATATCATGACTGGGC	0.458000														232			10		0	0	0.000566183	0	0
ITGB4	3691	broad.mit.edu	37	17	73736931	73736931	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:73736931C>T	uc002jpg.3	+	22	2796	c.2609_splice	c.e22+1	p.R870_splice	ITGB4_uc002jph.3_Splice_Site_p.R870_splice|ITGB4_uc010dgo.3_Splice_Site_p.R870_splice|ITGB4_uc002jpi.4_Splice_Site_p.R870_splice|ITGB4_uc010dgp.1_Splice_Site_p.P882_splice|ITGB4_uc002jpj.3_Splice_Site_p.R870_splice	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	870					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)			GACCAAGTTCCGGTGAGTCCC	0.672000														19			8		0	0	0.000274275	0	0
POF1B	79983	broad.mit.edu	37	X	84561241	84561241	+	Silent	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:84561241T>C	uc004eer.2	-	11	1409	c.1263A>G	c.(1261-1263)gaA>gaG	p.E421E	POF1B_uc004ees.3_Silent_p.E421E	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	421							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AATATTCCAGTTCTTTTAGTC	0.338000														16			72		0	0	0.000781405	0	0
NCAM1	4684	broad.mit.edu	37	11	113130986	113130986	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:113130986G>A	uc021qqp.1	+	16	2510	c.2138G>A	c.(2137-2139)gGa>gAa	p.G713E	NCAM1_uc001pnp.3_Missense_Mutation_p.G712E|NCAM1_uc021qqo.1_Missense_Mutation_p.G677E|NCAM1_uc001pnq.3_Missense_Mutation_p.G687E|NCAM1_uc001pnr.3_Missense_Mutation_p.G677E|NCAM1_uc001pns.3_Missense_Mutation_p.G71E	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	691					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|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)		AACCAGCAAGGAAAATCCAAG	0.547000														63			22		0	0	0.000586117	0	0
KLK3	354	broad.mit.edu	37	19	51361337	51361337	+	Missense_Mutation	SNP	G	A	A	rs138565183	byFrequency	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:51361337G>A	uc021uyi.1	+	2	300	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	KLK3_uc002pts.1_Missense_Mutation_p.G87S|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	87	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			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)		TGAAGACACAGGCCAGGTATT	0.547000														6			23		0	0	0.000720815	0	0
FN1	2335	broad.mit.edu	37	2	216245549	216245549	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:216245549C>T	uc002vfa.3	-	32	5685	c.5419G>A	c.(5419-5421)Gga>Aga	p.G1807R	FN1_uc002vfc.3_Intron|FN1_uc002vfe.3_Missense_Mutation_p.G1716R|FN1_uc002vff.3_Missense_Mutation_p.G1716R|FN1_uc002vfg.3_Intron|FN1_uc002vfh.3_Intron|FN1_uc002vfi.3_Missense_Mutation_p.G1807R|FN1_uc002vfj.3_Intron|FN1_uc002vfb.3_Intron|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Missense_Mutation_p.G169R|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1806	Fibronectin type-III 13.|Heparin-binding 2.				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.G1806G(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)	GACTGGGTTCCAATCAGGGGC	0.522000														92			23		0	0	0.000720815	0	0
PTCH2	8643	broad.mit.edu	37	1	45294871	45294871	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:45294871G>A	uc010olf.2	-	9	1341	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	PTCH2_uc021omv.1_Silent_p.L443L|PTCH2_uc010olg.2_Silent_p.L142L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	443	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGGGCACAGAGCCCAAGGC	0.667000									Basal Cell Nevus syndrome					16			13		0	0	0.00185496	0	0
EBF1	1879	broad.mit.edu	37	5	158250325	158250326	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:158250325_158250326CC>TT	uc010jip.3	-	8	939	c.637_splice	c.e8-1	p.V213_splice	EBF1_uc011ddw.2_Splice_Site_p.V80_splice|EBF1_uc011ddx.2_Splice_Site_p.V213_splice|EBF1_uc003lxl.4_Splice_Site_p.V190_splice	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	213					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)			GACACCACGACCTGGAGACATA	0.416000			T	HMGA2	lipoma									1			12		0	0	6.4e-05	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418633	80418633	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:80418633A>T	uc011kgw.2	-	11	1476	c.1397T>A	c.(1396-1398)tTt>tAt	p.F466Y	SEMA3C_uc003uhj.3_Missense_Mutation_p.F448Y	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	448	Sema.				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						TGTTCCGAGAAACAGGACATG	0.398000														84			37		0	0	0.00128727	0	0
PLVAP	83483	broad.mit.edu	37	19	17476671	17476671	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:17476671C>T	uc002ngk.1	-	2	643	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	201						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						CCCGGGTTTTCACGCATTCAA	0.557000														37			11		0	0	0.000978159	0	0
OR10A2	341276	broad.mit.edu	37	11	6891546	6891546	+	Silent	SNP	C	T	T	rs144699545		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:6891546C>T	uc001meu.1	+	0	561	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	187					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)		TCTACGCCATCGTCGGAACCA	0.517000														114			31		0	0	0.000491102	0	0
DYSF	8291	broad.mit.edu	37	2	71839847	71839847	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:71839847C>T	uc010fen.3	+	38	4439	c.4298C>T	c.(4297-4299)cCt>cTt	p.P1433L	DYSF_uc010fei.3_Missense_Mutation_p.P1432L|DYSF_uc010feh.3_Missense_Mutation_p.P1401L|DYSF_uc002sig.4_Missense_Mutation_p.P1401L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1446L|DYSF_uc010fee.3_Missense_Mutation_p.P1415L|DYSF_uc010fef.3_Missense_Mutation_p.P1432L|DYSF_uc002sie.3_Missense_Mutation_p.P1415L|DYSF_uc010feo.3_Missense_Mutation_p.P1447L|DYSF_uc010fej.3_Missense_Mutation_p.P1402L|DYSF_uc010fel.3_Missense_Mutation_p.P1402L|DYSF_uc010fem.3_Missense_Mutation_p.P1416L|DYSF_uc002sif.3_Missense_Mutation_p.P1416L|DYSF_uc010fek.3_Missense_Mutation_p.P1433L|DYSF_uc010yqy.2_Missense_Mutation_p.P296L|DYSF_uc010yqz.2_Missense_Mutation_p.P155L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1415						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						GGCCGCCGGCCTGTGGTGGGC	0.647000														28			12		0	0	0.000219431	0	0
SETDB1	9869	broad.mit.edu	37	1	150900198	150900198	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:150900198C>T	uc001evu.2	+	1	198	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SETDB1_uc001evw.4_Missense_Mutation_p.S3F|SETDB1_uc009wmf.2_Missense_Mutation_p.S3F|SETDB1_uc001evv.2_Missense_Mutation_p.S3F|SETDB1_uc009wmg.2_Missense_Mutation_p.S3F	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|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)			AGCATGTCTTCCCTTCCTGGG	0.423000														64			36		0	0	0.00170553	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891837	18891837	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:18891837G>A	uc001rdy.3	+	0	793	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	212					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)				CTGAAAGAAAGCTTGGAAATA	0.403000														43			13		0	0	0.00136819	0	0
COL21A1	81578	broad.mit.edu	37	6	55990387	55990387	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:55990387G>A	uc003pcs.3	-	13	1860	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	COL21A1_uc010jzz.3_5'Flank|COL21A1_uc011dxg.2_5'Flank|COL21A1_uc011dxh.2_5'Flank|COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S543L|COL21A1_uc003pcu.1_Missense_Mutation_p.S540L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	543	Collagen-like 2.				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)			AAATCCAGGTGATCCTTTGTC	0.284000														19			11		0	0	0.00185496	0	0
SDK1	221935	broad.mit.edu	37	7	4152976	4152976	+	Silent	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:4152976C>A	uc003smx.3	+	23	3629	c.3490C>A	c.(3490-3492)Cgg>Agg	p.R1164R	SDK1_uc010kso.3_Silent_p.R440R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1164	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1164R(2)		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)		TCCGTCTTCCCGGGTCATCCA	0.577000														123			32		8.88839e-20	6.99106e-19	0.000339439	1	0
MYOCD	93649	broad.mit.edu	37	17	12666495	12666495	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:12666495C>T	uc002gno.2	+	13	2794	c.2495C>T	c.(2494-2496)tCc>tTc	p.S832F	MYOCD_uc002gnn.2_Missense_Mutation_p.S784F|MYOCD_uc002gnq.2_Missense_Mutation_p.S508F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	784					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.E831K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCTCGGCTTCCTTTGAACAA	0.507000														40			36		0	0	0.00148497	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877260	144877260	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:144877260G>A	uc021ouh.1	-	27	4729	c.4427C>T	c.(4426-4428)tCc>tTc	p.S1476F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1476F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1432F|PDE4DIP_uc001elv.4_Missense_Mutation_p.S483F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1476					cellular protein complex assembly	Golgi apparatus|centrosome|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)		CTGAATCAGGGAATCATATTT	0.428000			T	PDGFRB	MPD									66			14		0	0	0.000308642	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590071	115590071	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:115590071G>A	uc004eqi.3	+	13	2010	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	627					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCCTAAAAAAGAGGCTGACCA	0.383000														24			56		0	0	0.000781405	0	0
PDE3A	5139	broad.mit.edu	37	12	20766445	20766445	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:20766445C>T	uc001reh.2	+	2	1120	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	PDE3A_uc021qwa.1_Silent_p.L38L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	360				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	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)	TTACCGACCTCCTGGCAGACC	0.552000														67			19		0	0	0.000958276	0	0
ME3	10873	broad.mit.edu	37	11	86267657	86267657	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:86267657G>A	uc001pbz.3	-	2	659	c.405C>T	c.(403-405)atC>atT	p.I135I	ME3_uc001pca.3_Silent_p.I135I|ME3_uc009yvk.3_Silent_p.I135I|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	135					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding	p.I135I(2)		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)	GCGTGTACACGATTGGCATGA	0.587000														17			9		0	0	0.000274275	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507606	1507606	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:1507606G>A	uc010xgq.1	-	8	987	c.668C>T	c.(667-669)cCc>cTc	p.P223L	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.P213L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	213						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCCTCGGGGATCAGGGT	0.657000														8			17		0	0	0.000375601	0	0
PUM1	9698	broad.mit.edu	37	1	31437599	31437599	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:31437599G>A	uc001bsi.1	-	13	2358	c.2245C>T	c.(2245-2247)Cct>Tct	p.P749S	PUM1_uc001bsf.1_Missense_Mutation_p.P415S|PUM1_uc001bsh.1_Missense_Mutation_p.P749S|PUM1_uc001bsj.1_Missense_Mutation_p.P723S|PUM1_uc010oga.1_Missense_Mutation_p.P605S|PUM1_uc001bsk.1_Missense_Mutation_p.P785S|PUM1_uc010ogb.1_Missense_Mutation_p.P690S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	749	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTGACTAGGGAGAGGCATG	0.502000														67			62		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179427744	179427744	+	Silent	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179427744G>T	uc021vsy.1	-	274	75636	c.75411C>A	c.(75409-75411)ccC>ccA	p.P25137P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P18832P|TTN_uc021vta.1_Silent_p.P18765P|TTN_uc021vtb.1_Silent_p.P18640P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26064							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18832P(1)|p.P25135P(1)|p.P18765P(1)|p.P18640P(1)|p.P25137P(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)			ATTTAACTTCGGGTTCTGGTC	0.443000														131			6		0.00116845	0.00882654	0.00116845	1	0
C6orf170	221322	broad.mit.edu	37	6	121560300	121560300	+	Silent	SNP	G	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:121560300G>C	uc003pyo.1	-	19	2348	c.2280C>G	c.(2278-2280)tcC>tcG	p.S760S	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Silent_p.S279S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	760					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTCCAGATTGGACCATAATT	0.328000														73			31		0	0	0.00127121	0	0
BCL3	602	broad.mit.edu	37	19	45262001	45262001	+	Silent	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:45262001G>T	uc010xxe.2	+	7	1150	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	360					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)				TCCTGAGGGGGAAGGCCACCC	0.642000			T	IGH@	CLL									61			25		3.00307e-07	2.33002e-06	0.001512	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517880	158517880	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:158517880G>A	uc010pil.2	-	0	16	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	6					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)					TCTACTTCCAGAATTATGGTG	0.448000														48			37		0	0	0.000437636	0	0
PTPRF	5792	broad.mit.edu	37	1	44072625	44072625	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:44072625C>T	uc001cjr.3	+	20	4183	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I	PTPRF_uc001cjs.3_Silent_p.I1272I|PTPRF_uc001cju.3_Silent_p.I659I|PTPRF_uc009vwt.3_Silent_p.I841I|PTPRF_uc001cjv.3_Silent_p.I741I|PTPRF_uc001cjw.3_Silent_p.I507I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1281					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)				TCATCGCCATCCTCTTGTTCA	0.627000														61			14		0	0	0.00152264	0	0
CACNA1C	775	broad.mit.edu	37	12	2706447	2706447	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:2706447G>T	uc009zdu.1	+	20	3158	c.2845G>T	c.(2845-2847)Gct>Tct	p.A949S	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkd.2_Missense_Mutation_p.A949S|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Missense_Mutation_p.A949S|CACNA1C_uc001qkg.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkh.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkl.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkj.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkk.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Missense_Mutation_p.A949S|CACNA1C_uc001qko.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.A949S|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Missense_Mutation_p.A949S|CACNA1C_uc001qkt.2_Missense_Mutation_p.A949S|CACNA1C_uc009zdv.1_Missense_Mutation_p.A946S|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.A685S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	949					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)	CATTGAAATTGCTCTGAAGGT	0.488000														105			21		4.16121e-05	0.000318544	0.000375601	1	0
SVEP1	79987	broad.mit.edu	37	9	113238484	113238484	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:113238484C>T	uc010mtz.3	-	14	2936	c.2599_splice	c.e14+1	p.G867_splice	SVEP1_uc010mua.1_Splice_Site_p.G867_splice|SVEP1_uc004beu.2_Missense_Mutation_p.G867S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	867					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						ATTTAATTACCAATTGCAAAG	0.348000														28			34		0	0	0.000409698	0	0
DNAH9	1770	broad.mit.edu	37	17	11642241	11642241	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:11642241C>T	uc002gne.3	+	28	5927	c.5859C>T	c.(5857-5859)ttC>ttT	p.F1953F	DNAH9_uc010coo.3_Silent_p.F1247F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1953	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)		AGCAGTGGTTCAGCTTCCTTG	0.478000														49			14		0	0	0.00074312	0	0
GPR61	83873	broad.mit.edu	37	1	110086463	110086463	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:110086463G>A	uc021orh.1	+	0	819	c.819G>A	c.(817-819)caG>caA	p.Q273Q	GPR61_uc001dxy.2_Silent_p.Q273Q	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	273						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)		GGGCCCCCCAGACCACCCCAC	0.652000														17			22		0	0	0.00188189	0	0
BAI3	577	broad.mit.edu	37	6	69348628	69348628	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:69348628G>A	uc010kak.3	+	1	337	c.61G>A	c.(61-63)Gga>Aga	p.G21R	BAI3_uc003pev.4_Missense_Mutation_p.G21R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	21					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)				GGTTATGTTTGGATTTAATGC	0.363000														50			50		0	0	0.000781405	0	0
SEMA3E	9723	broad.mit.edu	37	7	83119496	83119496	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:83119496G>A	uc003uhy.2	-	1	831	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SEMA3E_uc022agy.1_Silent_p.L10L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	70	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTCCCACGAAGAGCCTCTCTT	0.408000														38			15		0	0	0.000422831	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713473	70713473	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:70713473G>A	uc010ttg.2	-	0	1046	c.395C>T	c.(394-396)tCa>tTa	p.S132L						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACTTATAAGTGAATTTTTTAT	0.383000														31			45		0	0	0.000680045	0	0
UBE4A	9354	broad.mit.edu	37	11	118245634	118245634	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:118245634G>A	uc001psw.3	+	8	1275	c.1140G>A	c.(1138-1140)aaG>aaA	p.K380K	UBE4A_uc001psv.3_Silent_p.K387K	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	380					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)		TCCACGAAAAGATCTACCAGA	0.438000														47			12		0	0	0.000219431	0	0
OR5P2	120065	broad.mit.edu	37	11	7818447	7818447	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:7818447A>G	uc001mfp.1	-	0	43	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	15					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)		AATAGGATGAACCCCGTCAGA	0.413000														48			6		0	0	8.12818e-05	0	0
BRIP1	83990	broad.mit.edu	37	17	59924520	59924520	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:59924520C>T	uc002izk.2	-	5	875	c.569G>A	c.(568-570)gGa>gAa	p.G190E		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	190	Helicase ATP-binding.				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						TACAGTCTTTCCTGAATCAAC	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						47			24		0	0	0.000295444	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885171	88885171	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:88885171G>A	uc003ydz.3	-	0	1126	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	343								p.S342R(2)		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						GGCCATGACGGAGGCTCCAGA	0.602000														37			23		0	0	0.000586117	0	0
C3orf15	89876	broad.mit.edu	37	3	119458134	119458134	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:119458134C>T	uc003ede.4	+	11	1571	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	C3orf15_uc010hqy.2_Silent_p.Y498Y|C3orf15_uc010hqz.3_Silent_p.Y436Y|C3orf15_uc011bjd.2_Silent_p.Y372Y|C3orf15_uc011bje.2_Silent_p.Y478Y|C3orf15_uc010hra.2_Silent_p.Y259Y	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	334						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CTGTGATCTACCTTCAAAAGT	0.418000														42			86		0	0	0.000781405	0	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:120983847G>A	uc010rzo.2	+	3	553	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(4)	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)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			23		0	0	0.00047179	0	0
TTLL7	79739	broad.mit.edu	37	1	84383305	84383305	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:84383305G>A	uc001djc.3	-	13	1965	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	523					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.T522fs*19(1)		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)		CTCGAGTCTTGGTAGTTTTTC	0.353000														44			22		0	0	0.000295444	0	0
AKNA	80709	broad.mit.edu	37	9	117118331	117118331	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:117118331G>A	uc004biq.3	-	12	3067	c.2932C>T	c.(2932-2934)Ccc>Tcc	p.P978S	AKNA_uc004bin.3_Missense_Mutation_p.P225S|AKNA_uc004bio.3_Missense_Mutation_p.P438S|AKNA_uc004bip.3_Missense_Mutation_p.P897S|AKNA_uc004bir.3_Missense_Mutation_p.P978S|AKNA_uc004bis.3_Missense_Mutation_p.P978S|AKNA_uc010mve.2_Missense_Mutation_p.P859S|AKNA_uc004bit.1_5'Flank	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	978					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						GCTCTTCTGGGAATCAGAGAA	0.627000														23			24		0	0	0.00127121	0	0
NOVA1	4857	broad.mit.edu	37	14	26917366	26917366	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:26917366C>T	uc001wqa.3	-	5	1743	c.957G>A	c.(955-957)ggG>ggA	p.G319G	NOVA1_uc001wpy.3_Silent_p.G441G|NOVA1_uc001wpz.3_Silent_p.G417G	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	444	Ala-rich.				RNA splicing|locomotory behavior|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)		CTAATGTTTTCCCTCCTTTGC	0.433000														12			17		0	0	0.000566183	0	0
PGM1	5236	broad.mit.edu	37	1	64059224	64059224	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:64059224T>C	uc001dbh.3	+	0	278	c.65T>C	c.(64-66)cTg>cCg	p.L22P	PGM1_uc010ooy.2_5'Flank	NM_002633	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 1, mRNA.	22					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						ACGAGCGGGCTGCGGAAGCGG	0.647000														23			5		0	0	0.000157383	0	0
CIDEA	1149	broad.mit.edu	37	18	12277224	12277224	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr18:12277224G>A	uc002kqt.4	+	4	680	c.615G>A	c.(613-615)cgG>cgA	p.R205R	CIDEA_uc002kqu.4_Silent_p.R239R|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	205					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						AGGAAGAGCGGCCATCCCTCC	0.577000														12			19		0	0	0.000295444	0	0
ATP4A	495	broad.mit.edu	37	19	36054375	36054375	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:36054375C>T	uc002oal.1	-	1	96	c.67G>A	c.(67-69)Gct>Act	p.A23T		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	23					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)	ATCTTGGCAGCCATGTCCCCG	0.572000														111			30		0	0	0.000692331	0	0
BSN	8927	broad.mit.edu	37	3	49692305	49692305	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:49692305C>T	uc003cxe.4	+	4	5430	c.5316C>T	c.(5314-5316)gcC>gcT	p.A1772A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1772					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)		TGTGCCTGGCCCAGGTCAAAC	0.592000														14			26		0	0	0.00047179	0	0
IGF2-AS	51214	broad.mit.edu	37	11	2167598	2167598	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:2167598G>A	uc010qxi.2	+	1	544	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	IGF2_uc001lvh.3_Intron|IGF2_uc001lvi.3_Intron|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc001lvl.2_Non-coding_Transcript					Homo sapiens IGF2 antisense RNA 1 (non-protein coding) (IGF2-AS1), transcript variant 1, non-coding RNA.																		CGCCGCAGACGAGGCGCTGAC	0.662000														16			22		0	0	0.000375601	0	0
VWA3A	146177	broad.mit.edu	37	16	22132863	22132863	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:22132863G>A	uc010vbq.2	+	13	1377	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.L414L	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	427						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATCAGGTCCTGGCACCCAATG	0.413000														82			70		0	0	0.000781405	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319402	83319402	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:83319402C>T	uc004eej.2	-	21	2157	c.2121G>A	c.(2119-2121)atG>atA	p.M707I	RPS6KA6_uc011mqt.2_Missense_Mutation_p.M707I|RPS6KA6_uc011mqu.2_Missense_Mutation_p.M604I	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	707					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGTTGCAACCATTGCTCCCT	0.398000														1			16		0	0	0.000422831	0	0
PTPRK	5796	broad.mit.edu	37	6	128403618	128403618	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:128403618G>A	uc003qbk.3	-	9	2108	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	PTPRK_uc010kfc.3_Missense_Mutation_p.P581S|PTPRK_uc003qbj.3_Missense_Mutation_p.P581S|PTPRK_uc011ebu.2_Missense_Mutation_p.P581S|PTPRK_uc003qbl.1_Missense_Mutation_p.P451S|PTPRK_uc011ebv.1_Missense_Mutation_p.P581S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	581	Fibronectin type-III 3.				cell migration|cellular response to UV|cellular response to reactive oxygen species|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)		GCTGTGGCTGGACCAAAGCCT	0.418000														54			22		0	0	0.001512	0	0
GPR63	81491	broad.mit.edu	37	6	97246954	97246954	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:97246954G>A	uc010kcl.3	-	2	1132	c.654C>T	c.(652-654)ccC>ccT	p.P218P	GPR63_uc003pou.3_Silent_p.P218P|GPR63_uc021zcy.1_Silent_p.P218P	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	218						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TCTGCAGGTCGGGGTTTCCTA	0.458000														42			39		0	0	0.000589545	0	0
BCKDK	10295	broad.mit.edu	37	16	31121091	31121091	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:31121091C>T	uc002eaw.4	+	3	678	c.362C>T	c.(361-363)aCc>aTc	p.T121I	BCKDK_uc002eav.4_Missense_Mutation_p.T121I|BCKDK_uc010cai.3_Missense_Mutation_p.T121I	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	121					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGCAACCCCACCATACTGCAC	0.592000														27			9		0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82584652	82584652	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:82584652T>C	uc003uhx.2	-	4	5906	c.5617A>G	c.(5617-5619)Agc>Ggc	p.S1873G	PCLO_uc003uhv.2_Missense_Mutation_p.S1873G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1804					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						TTTTCCGGGCTTATTTCAAAA	0.383000														49			44		0	0	0.00195071	0	0
ZNF331	55422	broad.mit.edu	37	19	54080355	54080355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:54080355C>T	uc002qbx.1	+	6	1975	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	ZNF331_uc002qby.1_Missense_Mutation_p.H181Y|ZNF331_uc002qbz.1_Missense_Mutation_p.H181Y|ZNF331_uc010eqr.1_Missense_Mutation_p.H181Y|ZNF331_uc002qca.1_Missense_Mutation_p.H181Y|ZNF331_uc021uzg.1_Missense_Mutation_p.H181Y|ZNF331_uc021uzh.1_Missense_Mutation_p.H181Y|ZNF331_uc002qcb.1_Missense_Mutation_p.H181Y|ZNF331_uc002qcc.1_Missense_Mutation_p.H181Y|ZNF331_uc002qcd.1_Missense_Mutation_p.H181Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H181N(2)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAAAAAATTCATACTGGGGA	0.418000			T	?	follicular thyroid adenoma									20			56		0	0	0.000781405	0	0
RFTN1	23180	broad.mit.edu	37	3	16450885	16450885	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:16450885C>T	uc003cay.3	-	3	720	c.438G>A	c.(436-438)aaG>aaA	p.K146K	RFTN1_uc010hes.3_Silent_p.K110K	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	146						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						CGCTCACCTTCTTAATGAACT	0.478000														12			18		0	0	0.00152264	0	0
TGM7	116179	broad.mit.edu	37	15	43585097	43585097	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:43585097G>A	uc001zrf.1	-	2	254	c.249C>T	c.(247-249)gtC>gtT	p.V83V		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	83					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)	TCCCGGGCTGGACCCGGGTGA	0.537000														66			67		0	0	0.000781405	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855635	12855635	+	Silent	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:12855635A>G	uc001auj.2	+	3	1018	c.915A>G	c.(913-915)ctA>ctG	p.L305L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	305										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)		ATGGCTACCTATTGGAAGAAG	0.473000														80			18		0	0	0.00127121	0	0
MPL	4352	broad.mit.edu	37	1	43812205	43812205	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:43812205G>A	uc001ciw.3	+	6	1115	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	MPL_uc001civ.3_Missense_Mutation_p.R357Q|MPL_uc009vwr.3_Missense_Mutation_p.R350Q	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	357					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCAAGTCACGAAATGACAGC	0.532000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							86			25		0	0	0.00047179	0	0
C2orf63	130162	broad.mit.edu	37	2	55445100	55445100	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:55445100A>G	uc002ryi.2	-	3	558	c.212T>C	c.(211-213)cTt>cCt	p.L71P	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_5'UTR	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	71							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			GATTGAAGTAAGAATGGATTT	0.313000														48			19		0	0	0.00188189	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023397	193023397	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:193023397G>A	uc011bsq.2	-	22	2629	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	877					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P877P(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAGGTAAAAGGGGATGCCACA	0.468000														26			57		0	0	0.000781405	0	0
GLYAT	10249	broad.mit.edu	37	11	58478166	58478166	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:58478166T>C	uc001nnb.3	-	4	540	c.385A>G	c.(385-387)Aca>Gca	p.T129A	GLYAT_uc001nnc.3_Missense_Mutation_p.T129A	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	129					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATGCGTTGTGTTTGTTTGACT	0.423000														96			27		0	0	0.000878237	0	0
MYLK2	85366	broad.mit.edu	37	20	30418840	30418840	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:30418840G>A	uc002wwq.2	+	9	1422	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	MYLK2_uc002wws.2_Silent_p.K57K|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	440	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)			AGAAGCTGAAGGTGAACTTTG	0.557000														44			12		0	0	0.00136819	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171971	42171971	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:42171971G>A	uc001zos.3	-	14	3131	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	968					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)		GATTTGTGTGGAGTTCCCAGG	0.587000														33			34		0	0	0.00058488	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368331	111368331	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:111368331G>A	uc003puq.3	-	0	427	c.292C>T	c.(292-294)Cct>Tct	p.P98S						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		AGCATTGCAGGGAGTGCCTCC	0.488000														2			4		0	0	0.00024832	0	0
ATXN2	6311	broad.mit.edu	37	12	111956184	111956184	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:111956184G>A	uc001tsj.3	-	8	1676	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	ATXN2_uc001tsh.3_Missense_Mutation_p.S240F|ATXN2_uc001tsi.3_Missense_Mutation_p.S216F|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.S240F	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	505					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus 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						ACTTCCCCAGGATATGACTTC	0.428000														39			44		0	0	0.000589545	0	0
TTN	7273	broad.mit.edu	37	2	179598575	179598575	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179598575C>T	uc021vsy.1	-	49	12034	c.11809G>A	c.(11809-11811)Gga>Aga	p.G3937R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G598R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4864							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)			GTTTGTCCTCCTAGTGCAATC	0.418000														56			21		0	0	0.00188189	0	0
C1orf194	127003	broad.mit.edu	37	1	109650604	109650604	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:109650604C>T	uc009wev.3	-	1	205	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Missense_Mutation_p.R34Q	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	46										large_intestine(2)|lung(2)|ovary(2)	6						TGAGTTGAGCCGACTCCAGGG	0.473000														96			25		0	0	0.000878237	0	0
PGC	5225	broad.mit.edu	37	6	41704716	41704716	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:41704716G>A	uc003ora.2	-	8	1108	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	347					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.G346*(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)			AGGTGGGCTCGACTCCCACGG	0.572000														39			12		0	0	0.000219431	0	0
MBOAT2	129642	broad.mit.edu	37	2	9008601	9008601	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:9008601G>A	uc002qzg.1	-	8	1095	c.962C>T	c.(961-963)tCc>tTc	p.S321F	MBOAT2_uc010yix.1_Missense_Mutation_p.S321F	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	321					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCAAATTGGAAATTAAGTC	0.348000														101			46		0	0	0.000781405	0	0
FAM13C	220965	broad.mit.edu	37	10	61028361	61028361	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:61028361C>T	uc010qif.1	-	7	1026	c.960G>A	c.(958-960)cgG>cgA	p.R320R	FAM13C_uc010qid.2_Silent_p.R215R|FAM13C_uc001jkn.3_Silent_p.R298R|FAM13C_uc001jko.3_Silent_p.R298R|FAM13C_uc010qie.2_Silent_p.R215R|FAM13C_uc001jkp.3_Silent_p.R215R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	298										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGAATTTTCCGCTTGAGGC	0.502000														10			17		0	0	0.000422831	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261580	24261580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:24261580G>A	uc003xdz.2	+	12	1605	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	ADAMDEC1_uc010lub.2_Missense_Mutation_p.G383E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G383E	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	462	Disintegrin.				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)		GATTGCGGAGGAGATGCTCCA	0.428000														30			19		0	0	0.00152264	0	0
MXRA5	25878	broad.mit.edu	37	X	3227970	3227970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:3227970C>T	uc004crg.4	-	6	8431	c.8274G>A	c.(8272-8274)atG>atA	p.M2758I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2758	Ig-like C2-type 12.					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)				TGGGAATCCCCATAGCCATGC	0.572000														6			30		0	0	0.001512	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692629	153692629	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:153692629G>A	uc004flm.3	+	7	1974	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	601					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)					CTCCCTCCAGGAGCTCCGAGC	0.701000														1			5		0	0	0.00116845	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496687	20496687	+	RNA	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:20496687A>G	uc001ytf.1	+	5		c.740A>G								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGTGTTGTGAACTCCATGGTT	0.423000														77			7		0	0	0.000157383	0	0
PFKFB2	5208	broad.mit.edu	37	1	207240856	207240856	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:207240856C>T	uc001hfg.3	+	8	754	c.645C>T	c.(643-645)ttC>ttT	p.F215F	PFKFB2_uc010psc.2_Silent_p.F117F|PFKFB2_uc001hfh.3_Silent_p.F215F|PFKFB2_uc009xcc.3_Silent_p.F173F|PFKFB2_uc010psd.2_Silent_p.F29F	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	215	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)					ATCTTTCTTTCATCAAGGTGA	0.428000														36			27		0	0	0.001512	0	0
CAAP1	79886	broad.mit.edu	37	9	26842533	26842533	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:26842533G>A	uc003zqc.3	-	5	965	c.852C>T	c.(850-852)gtC>gtT	p.V284V	CAAP1_uc003zqb.3_Silent_p.V139V	NM_024828	NP_001161047	Q9H8G2	CI082_HUMAN	Homo sapiens chromosome 9 open reading frame 82 (C9orf82), transcript variant 1, mRNA.	284																	CTTCACTTTGGACTGTATTTT	0.458000														73			86		0	0	0.000781405	0	0
CASZ1	54897	broad.mit.edu	37	1	10719965	10719965	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:10719965G>A	uc001aro.3	-	5	1454	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	CASZ1_uc001arp.1_Silent_p.V378V|CASZ1_uc009vmx.2_Silent_p.V402V|CASZ1_uc001arq.1_Silent_p.V237V	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	378					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)		GGATGCCCCGGACGTCGTACT	0.721000														23			8		0	0	0.000442599	0	0
ADCY10	55811	broad.mit.edu	37	1	167814888	167814888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:167814888G>A	uc001ger.3	-	20	3218	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S	ADCY10_uc010plj.2_Missense_Mutation_p.P821S|ADCY10_uc009wvk.3_Missense_Mutation_p.P882S|ADCY10_uc009wvl.3_Missense_Mutation_p.P973S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	974					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|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						TGATGATAGGGAATGAAGTCC	0.448000														59			40		0	0	0.000437636	0	0
CNTN4	152330	broad.mit.edu	37	3	2908472	2908472	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:2908472C>T	uc003bpc.3	+	7	830	c.491C>T	c.(490-492)tCc>tTc	p.S164F	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S164F|CNTN4_uc003bpd.1_Missense_Mutation_p.S164F	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	164	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	p.S164Y(1)		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)		GAATACCCTTCCTATCAGGAT	0.383000														36			42		0	0	0.000781405	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692379	189692379	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:189692379C>T	uc011bsk.2	-	8	1808	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E293K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	474					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion 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)	CGGCACTGTTCTTCCGACAGG	0.577000														16			20		0	0	0.00188189	0	0
USH2A	7399	broad.mit.edu	37	1	216040470	216040470	+	Silent	SNP	C	T	T	rs139348606		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:216040470C>T	uc001hku.1	-	43	9111	c.8724G>A	c.(8722-8724)gtG>gtA	p.V2908V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2908	Fibronectin type-III 15.				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)		GTGTAAAACCCACACTGTTGT	0.403000										HNSCC(13;0.011)				42			11		0	0	0.000978159	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:114326902C>T	uc003ynu.3	-	1	458	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_uc003ynt.3_Missense_Mutation_p.R60Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R100Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R100Q|CSMD3_uc003ynx.4_Missense_Mutation_p.R100Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	100	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						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				92			58		0	0	0.000781405	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:152847286C>T	uc021zhb.1	-	2	377	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_uc003qot.4_Missense_Mutation_p.D52N|SYNE1_uc003qou.4_Missense_Mutation_p.D52N|SYNE1_uc010kjb.1_Missense_Mutation_p.D52N|SYNE1_uc003qpa.1_Missense_Mutation_p.D52N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	52	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)				36			20		0	0	0.00152264	0	0
SPAG17	200162	broad.mit.edu	37	1	118658037	118658037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:118658037C>T	uc001ehk.2	-	3	411	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	115						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)		TCTCCACTATCCATAATTGCT	0.353000														39			25		0	0	0.000878237	0	0
GRIA2	2891	broad.mit.edu	37	4	158281187	158281187	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:158281187C>T	uc003ipm.4	+	12	2642	c.2183C>T	c.(2182-2184)aCg>aTg	p.T728M	GRIA2_uc011cit.2_Missense_Mutation_p.T681M|GRIA2_uc003ipl.4_Missense_Mutation_p.T728M|GRIA2_uc003ipk.4_Missense_Mutation_p.T681M|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.T38M|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.T38M|GRIA2_uc011ciy.1_Missense_Mutation_p.T38M|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	728					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGGAGTCCACGATGAACGAG	0.522000														53			10		0	0	0.000442599	0	0
NINL	22981	broad.mit.edu	37	20	25459788	25459788	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:25459788T>C	uc002wux.1	-	15	2046	c.1972A>G	c.(1972-1974)Agg>Ggg	p.R658G	NINL_uc010gdn.1_Missense_Mutation_p.R658G|NINL_uc010gdo.1_Missense_Mutation_p.R441G	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	658					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						ATGTCCTTCCTCTCCTTCTCA	0.542000														65			20		0	0	0.00152264	0	0
CCDC148	130940	broad.mit.edu	37	2	159028745	159028745	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:159028745G>A	uc002tzq.3	-	13	1970	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	CCDC148_uc002tzr.3_Silent_p.F400F|CCDC148_uc010foh.3_Silent_p.F265F|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	552										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGCTAACTCGAAGCGAAGTC	0.313000														46			30		0	0	0.00178596	0	0
LANCL1	10314	broad.mit.edu	37	2	211302499	211302499	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:211302499G>A	uc010zjh.2	-	6	863	c.788C>T	c.(787-789)cCa>cTa	p.P263L	LANCL1_uc002ved.3_Missense_Mutation_p.P263L|LANCL1_uc010fuq.3_Missense_Mutation_p.P263L	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	263						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor 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)		ACCTATACATGGAGGGTAATT	0.488000														29			29		0	0	0.00127121	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679243	176679243	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:176679243G>A	uc001gkz.3	+	10	4746	c.3582G>A	c.(3580-3582)cgG>cgA	p.R1194R	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1194					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						GGGCTACCCGGGCTTACTCCT	0.458000														66			55		0	0	0.000781405	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684775	46684775	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:46684775G>A	uc010jzf.3	-	2	437	c.168C>T	c.(166-168)atC>atT	p.I56I	PLA2G7_uc021zae.1_Silent_p.I56I|PLA2G7_uc011dwd.1_Silent_p.I11I|PLA2G7_uc011dwe.1_Intron	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	56					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.I56I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTCCCCGGGGGATTTTAGTTT	0.378000														55			19		0	0	0.00121646	0	0
NLRP1	22861	broad.mit.edu	37	17	5462137	5462137	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:5462137G>A	uc002gci.3	-	3	2434	c.1879C>T	c.(1879-1881)Caa>Taa	p.Q627*	NLRP1_uc002gcg.1_Nonsense_Mutation_p.Q627*|NLRP1_uc002gch.4_Nonsense_Mutation_p.Q627*|NLRP1_uc002gck.3_Nonsense_Mutation_p.Q627*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.Q627*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.Q627*|NLRP1_uc010clh.3_Nonsense_Mutation_p.Q627*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	627	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|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)				AAGAACTCTTGGAAACAGAGG	0.453000														37			11		0	0	0.000673444	0	0
ANO2	57101	broad.mit.edu	37	12	5708689	5708689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:5708689C>T	uc001qnm.2	-	20	2266	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	737						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						GTGTATGGTTCCAAGCTGTAG	0.507000														78			48		0	0	0.000781405	0	0
RPTOR	57521	broad.mit.edu	37	17	78820279	78820279	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:78820279C>T	uc002jyt.1	+	10	2024	c.1219C>T	c.(1219-1221)Ccg>Tcg	p.P407S	RPTOR_uc010wuf.1_Missense_Mutation_p.P222S|RPTOR_uc010wug.1_Missense_Mutation_p.P407S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	407					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	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						GCAGCACAGCCCGTTCTTCGC	0.637000														30			30		0	0	0.000339439	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:50169104C>T	uc002ppa.3	+	0	706	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.F8F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000														27			40		0	0	0.000589545	0	0
ESPNL	339768	broad.mit.edu	37	2	239040160	239040160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:239040160G>A	uc002vxq.4	+	8	2915	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	ESPNL_uc010fyw.3_Nonsense_Mutation_p.W631*	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	935								p.A934S(1)		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)		GTCCCGCCTGGGATACGGAGC	0.726000														10			11		0	0	0.000673444	0	0
CFH	3075	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:196887394G>A	uc001gtp.3	+	9	1732	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	CFH_uc021pgt.1_Missense_Mutation_p.G155E|CFH_uc009wyy.3_Missense_Mutation_p.G531E|CFH_uc001gto.3_Missense_Mutation_p.G285E	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	884	Sushi 9.				complement activation, alternative pathway	extracellular space		p.G285E(1)		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						CAGTTAAAAGGAAAAAGTGAC	0.279000														61			19		0	0	0.00188189	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182097	2182097	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:2182097C>T	uc021qcd.1	-	0	343	c.105G>A	c.(103-105)ctG>ctA	p.L35L	IGF2_uc001lvi.3_Non-coding_Transcript|INS-IGF2_uc001lvm.3_Silent_p.L35L|INS-IGF2_uc001lvo.1_Silent_p.L35L|INS-IGF2_uc001lvn.2_Silent_p.L35L|INS-IGF2_uc009ydg.1_Silent_p.L35L	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	35					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GAGCTTCCACCAGGTGTGAGC	0.647000														91			58		0	0	0.000781405	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417712	150417713	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:150417712_150417713TG>AT	uc003whq.3	+	2	760_761	c.620_621TG>AT	c.(619-621)atg>aAT	p.M207N	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CTGCTGGGGATGGTCGAGGGCT	0.688000														16			6		0	0	6.4e-05	0	0
C15orf42	90381	broad.mit.edu	37	15	90137730	90137730	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:90137730G>A	uc002boe.3	+	5	1626	c.1626G>A	c.(1624-1626)caG>caA	p.Q542Q	C15orf42_uc021sug.1_Silent_p.Q541Q	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	542					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGCTCTACCAGAGAAAATCTC	0.408000														30			36		0	0	0.000814825	0	0
MLL2	8085	broad.mit.edu	37	12	49445377	49445377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:49445377G>A	uc001rta.4	-	9	2089	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	697	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGATGTGGGGGAGTCCTCA	0.652000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				44			10		0	0	0.000978159	0	0
TIAM2	26230	broad.mit.edu	37	6	155451067	155451067	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:155451067C>T	uc003qqb.3	+	5	1983	c.710C>T	c.(709-711)tCc>tTc	p.S237F	TIAM2_uc003qqe.3_Missense_Mutation_p.S237F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	237					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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein 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)		CGCCTGCGGTCCAGCAAAGGC	0.652000														22			14		0	0	0.000566183	0	0
PDE4C	5143	broad.mit.edu	37	19	18324186	18324186	+	Silent	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:18324186G>T	uc010xqc.2	-	12	2080	c.1600C>A	c.(1600-1602)Cga>Aga	p.R534R	PDE4C_uc002nik.4_Silent_p.R534R|PDE4C_uc002nil.4_Silent_p.R534R|PDE4C_uc002nig.4_Silent_p.R249R|PDE4C_uc002nih.4_Silent_p.R304R|PDE4C_uc010ebk.3_Silent_p.R428R|PDE4C_uc002nii.4_Silent_p.R502R|PDE4C_uc002nif.4_Silent_p.R303R|PDE4C_uc010ebl.3_Silent_p.R248R	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	534					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.D533N(1)		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)	ACCTGGATTCGGTCGGAATAG	0.438000														35			4		0.00024832	0.00189584	0.00024832	1	0
GPLD1	2822	broad.mit.edu	37	6	24460549	24460550	+	Missense_Mutation	DNP	AT	GC	GC			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:24460549_24460550AT>GC	uc003ned.1	-	11	1076_1077	c.965_966AT>GC	c.(964-966)tat>tGC	p.Y322C	GPLD1_uc010jpr.1_Missense_Mutation_p.Y159C|GPLD1_uc010jps.1_Missense_Mutation_p.Y322C	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	322						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						CTCTTTCAGTATAGTTTATATT	0.361000														47			47		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179581844	179581844	+	Silent	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179581844A>G	uc021vsy.1	-	84	22110	c.21885T>C	c.(21883-21885)tgT>tgC	p.C7295C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.C3956C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8222	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D7294H(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)			GCTGAGCAGAACAAGAGTCTT	0.453000														31			10		0	0	0.000442599	0	0
ITGA7	3679	broad.mit.edu	37	12	56090798	56090798	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:56090798G>A	uc001shh.3	-	11	1854	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	ITGA7_uc001shg.3_Missense_Mutation_p.P541L|ITGA7_uc010sps.2_Missense_Mutation_p.P448L|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.P422L	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	585					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						CGTCACACGGGGAACCTGGCC	0.622000														9			12		0	0	0.00136819	0	0
CENPJ	55835	broad.mit.edu	37	13	25484175	25484175	+	Silent	SNP	T	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr13:25484175T>A	uc001upt.4	-	3	871	c.618A>T	c.(616-618)ggA>ggT	p.G206G	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	206					G2/M transition of mitotic cell cycle|cell division|centriole replication|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)		TGGTGGTATTTCCTGGAGACC	0.458000														24			48		0	0	0.000781405	0	0
SLC26A9	115019	broad.mit.edu	37	1	205886434	205886434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:205886434G>A	uc001hdp.3	-	19	2419	c.2305C>T	c.(2305-2307)Cgc>Tgc	p.R769C	SLC26A9_uc001hdm.3_5'UTR|SLC26A9_uc001hdn.3_5'UTR|SLC26A9_uc001hdo.3_Missense_Mutation_p.R437C|SLC26A9_uc001hdq.3_Missense_Mutation_p.R769C	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	769						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGTAGCTGCGAATGTCCTCC	0.577000														118			42		0	0	0.000781405	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593328	125593328	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:125593328T>A	uc010inw.3	-	3	2142	c.1104A>T	c.(1102-1104)gaA>gaT	p.E368D	ANKRD50_uc011cgo.2_Missense_Mutation_p.E189D	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	368										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						CGTGATATAATTCCGTTATGG	0.393000														113			33		0	0	0.00111076	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886793	45886793	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:45886793G>A	uc002ilx.1	-	18	2135	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	OSBPL7_uc002ilw.1_Silent_p.V206V	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	644					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						GACCACTCAGGACATTGTGAA	0.547000														19			26		0	0	0.000339439	0	0
CALCB	797	broad.mit.edu	37	11	15096275	15096275	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:15096275G>A	uc001mlx.1	+	1	84	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	CALCB_uc009ygr.1_Missense_Mutation_p.R4Q	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	4					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						ATGGGTTTCCGGAAGTTCTCC	0.592000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			9		0	0	0.000978159	0	0
DECR2	26063	broad.mit.edu	37	16	461434	461434	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:461434C>T	uc002chb.3	+	7	841	c.735C>T	c.(733-735)atC>atT	p.I245I	DECR2_uc002chc.3_Silent_p.I161I|DECR2_uc002chd.3_Silent_p.I161I|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	245						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)				AGACCGAGATCGCCCACAGCG	0.677000														28			9		0	0	0.000442599	0	0
DISP2	85455	broad.mit.edu	37	15	40657833	40657833	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:40657833G>A	uc001zlk.1	+	6	941	c.852G>A	c.(850-852)aaG>aaA	p.K284K		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	284					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)		TTGCAGAGAAGAGCTATGCAA	0.567000														47			47		0	0	0.000781405	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442128	129442128	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:129442128C>T	uc010tbh.1	+	11	843	c.834C>T	c.(832-834)atC>atT	p.I278I	GLT1D1_uc001uhx.1_Silent_p.I193I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	273					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)		CCAGGAACATCCCCGGGAATG	0.498000														32			5		0	0	0.000602214	0	0
CALCB	797	broad.mit.edu	37	11	15098881	15098881	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:15098881C>T	uc001mlx.1	+	3	347	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	CALCB_uc009ygr.1_Missense_Mutation_p.R92W	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	92					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGTGACTCATCGGCTGGCAGG	0.567000														32			15		0	0	0.000422831	0	0
HERC2	8924	broad.mit.edu	37	15	28389360	28389360	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:28389360T>C	uc001zbj.3	-	72	11268	c.11162A>G	c.(11161-11163)gAc>gGc	p.D3721G		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3721					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)		GACGCAGCGGTCAGAGAGGAG	0.537000														33			27		0	0	0.00127121	0	0
LRP1B	53353	broad.mit.edu	37	2	141108424	141108424	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:141108424C>T	uc002tvj.1	-	76	12806	c.11834G>A	c.(11833-11835)gGa>gAa	p.G3945E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3945					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3945V(2)		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)		GTAGAAAATTCCGCCTGGATT	0.328000										TSP Lung(27;0.18)				48			18		0	0	0.00074312	0	0
RET	5979	broad.mit.edu	37	10	43604664	43604664	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:43604664C>T	uc001jal.3	+	5	1439	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	RET_uc001jak.1_Missense_Mutation_p.R417C|RET_uc010qez.1_Missense_Mutation_p.R163C	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	417					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)	CAGGAGGGCTCGCCGATTTGC	0.627000		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					4			11		0	0	0.00185496	0	0
ADAM21	8747	broad.mit.edu	37	14	70926041	70926041	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:70926041G>A	uc021rvq.1	+	0	1825	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	ADAM21_uc001xmd.3_Missense_Mutation_p.D609N	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	609	Cys-rich.				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)		TGAAGTGAAAGATGGTACTGT	0.428000														15			23		0	0	0.00047179	0	0
C15orf52	388115	broad.mit.edu	37	15	40632145	40632145	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:40632145G>A	uc001zlh.4	-	1	232	c.216C>T	c.(214-216)gcC>gcT	p.A72A	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	72								p.A72T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCTTGCGCAGGGCAACTATCC	0.637000														33			8		0	0	0.000442599	0	0
ZNF451	26036	broad.mit.edu	37	6	57013018	57013018	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:57013018C>T	uc003pdm.1	+	9	2359	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L	ZNF451_uc003pdl.3_Missense_Mutation_p.P712L|ZNF451_uc003pdn.1_Missense_Mutation_p.P712L|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.P712L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	712					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)			GATGATTTTCCAGTAATAGAG	0.363000														5			17		0	0	0.00074312	0	0
FUT9	10690	broad.mit.edu	37	6	96651903	96651903	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:96651903A>T	uc003pop.4	+	2	1213	c.872A>T	c.(871-873)gAt>gTt	p.D291V	FUT9_uc021zcw.1_Missense_Mutation_p.D291V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	291					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATGTGGAAGATTATAACTCT	0.383000														26			24		0	0	0.000375601	0	0
MIR193B	574455	broad.mit.edu	37	16	14397839	14397839	+	RNA	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:14397839G>A	uc021tdg.1	+	0		c.16G>A								Homo sapiens microRNA 193b (MIR193B), microRNA.																		CTCAGAATCGGGGTTTTGAGG	0.562000														78			63		0	0	0.000781405	0	0
AHNAK	79026	broad.mit.edu	37	11	62300296	62300296	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:62300296G>A	uc001ntl.3	-	4	1893	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	531					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)				CCACTTGAGGGCCTTTAACAT	0.507000														76			37		0	0	0.00111076	0	0
MTL5	9633	broad.mit.edu	37	11	68517742	68517742	+	Silent	SNP	T	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:68517742T>A	uc001ooc.3	-	1	527	c.387A>T	c.(385-387)ctA>ctT	p.L129L	MTL5_uc001ood.1_Silent_p.L129L|MTL5_uc009ysi.1_Silent_p.L129L|MTL5_uc001ooe.3_Silent_p.L129L	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	129					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)			GGTGCGCGGGTAGCAGCGAGG	0.721000														12			4		0	0	0.00116845	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5209251	5209251	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:5209251G>A	uc003jdl.3	+	9	1635	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	ADAMTS16_uc003jdk.1_Silent_p.K499K|ADAMTS16_uc003jdj.1_Silent_p.K499K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	499	Disintegrin.				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						AGCCTGTGAAGGAATACAAGT	0.473000														96			38		0	0	0.00148497	0	0
PDZD7	79955	broad.mit.edu	37	10	102782051	102782051	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:102782051G>A	uc001ksn.3	-	4	884	c.634C>T	c.(634-636)Cac>Tac	p.H212Y	PDZD7_uc021pxc.1_Missense_Mutation_p.H212Y|PDZD7_uc001kso.2_Missense_Mutation_p.H212Y	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	212	PDZ 2.					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)		GTGTATAGGTGGACGATGCGC	0.587000														5			13		0	0	0.00185496	0	0
C20orf26	26074	broad.mit.edu	37	20	20037347	20037347	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:20037347G>A	uc002wru.3	+	1	164	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Missense_Mutation_p.R17Q|C20orf26_uc010zsf.1_Missense_Mutation_p.R17Q|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	17										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)		GTTCATTGCCGAAGAACAGAA	0.348000														74			24		0	0	0.000586117	0	0
TIAM2	26230	broad.mit.edu	37	6	155451084	155451084	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:155451084C>T	uc003qqb.3	+	5	2000	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TIAM2_uc003qqe.3_Silent_p.L243L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	243					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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein 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)		AGGCAGCTCCCTGAGTTCTGA	0.672000														28			16		0	0	0.000308642	0	0
ESR2	2100	broad.mit.edu	37	14	64699862	64699862	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:64699862G>A	uc001xha.1	-	8	2054	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	ESR2_uc001xgy.2_Intron|ESR2_uc001xgu.3_Intron|ESR2_uc001xgv.3_Intron|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Intron|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S438F	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	529	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			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)	GCGTCACTGAGACTGTGGGTT	0.602000														10			16		0	0	0.000422831	0	0
ARID1A	8289	broad.mit.edu	37	1	27097779	27097779	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:27097779C>T	uc001bmv.1	+	11	3741	c.3368C>T	c.(3367-3369)tCc>tTc	p.S1123F	ARID1A_uc001bmt.1_Missense_Mutation_p.S1123F|ARID1A_uc001bmu.1_Missense_Mutation_p.S1123F|ARID1A_uc001bmw.1_Missense_Mutation_p.S740F|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1123					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	SWI/SNF complex|nBAF complex|npBAF 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)		GCTGCTGATTCCAAGAAGTCC	0.547000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									24			7		0	0	0.000157383	0	0
C1orf9	51430	broad.mit.edu	37	1	172558496	172558496	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:172558496C>T	uc001giq.4	+	17	2571	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	C1orf9_uc010pmm.1_Missense_Mutation_p.S752F|C1orf9_uc009wwd.3_Missense_Mutation_p.S708F|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	752					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GTATCTGAGTCTGTTGAATAT	0.388000														36			33		0	0	0.000692331	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802483	185802483	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:185802483G>A	uc002uph.3	+	3	2954	c.2360G>A	c.(2359-2361)cGa>cAa	p.R787Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	787						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						AGTTTAAATCGACAGAATCAT	0.373000														41			38		0	0	0.000814825	0	0
RGPD4	285190	broad.mit.edu	37	2	108488632	108488632	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:108488632A>G	uc010ywk.2	+	19	4254	c.4172A>G	c.(4171-4173)aAg>aGg	p.K1391R	RGPD4_uc002tdu.3_Missense_Mutation_p.K578R|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1391	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATGATAATAAGCAAGTTCGT	0.353000														211			119		0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141108425	141108425	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:141108425C>T	uc002tvj.1	-	76	12805	c.11833G>A	c.(11833-11835)Gga>Aga	p.G3945R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3945					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3945V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAAAATTCCGCCTGGATTA	0.323000										TSP Lung(27;0.18)				35			31		0	0	0.00178596	0	0
DNER	92737	broad.mit.edu	37	2	230456304	230456304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:230456304G>A	uc002vpv.3	-	1	724	c.577C>T	c.(577-579)Caa>Taa	p.Q193*		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	193					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|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)		ACCTCCACTTGATCCCATTTC	0.433000														34			5		0	0	0.00116845	0	0
FRG2B	441581	broad.mit.edu	37	10	135440236	135440236	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:135440236C>T	uc010qvg.2	-	0	64	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	4						nucleus		p.G4V(2)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTCTTCATTTCCCTTTCCCAT	0.522000														101			22		0	0	0.000720815	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	T	T	rs145870917		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:7863183C>T	uc001aop.3	+	7	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_uc009vmg.1_Missense_Mutation_p.R317C|PER3_uc009vmh.1_Missense_Mutation_p.R317C|PER3_uc001aoo.3_Missense_Mutation_p.R316C|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R316C	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	316	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)		CCCTGAAGATCGTTCTCTGAT	0.428000														108			28		0	0	0.000409698	0	0
APOB	338	broad.mit.edu	37	2	21229057	21229057	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:21229057G>A	uc002red.3	-	25	10811	c.10683C>T	c.(10681-10683)tcC>tcT	p.S3561S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3561					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)	GCTCCCAGAGGGAATATATGC	0.463000														311			216		0	0	0.000781405	0	0
CD226	10666	broad.mit.edu	37	18	67562970	67562970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr18:67562970C>T	uc010dqo.3	-	2	1141	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CD226_uc002lkm.4_Missense_Mutation_p.E232K|CD226_uc021uli.1_Missense_Mutation_p.E77K	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	232	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.E232K(4)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ACGAAGGTTTCGTTTTCTCCT	0.562000														28			53		0	0	0.000781405	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264878	50264878	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:50264878C>T	uc001zxu.3	-	12	1286	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	ATP8B4_uc010ber.3_Missense_Mutation_p.E255K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E255K|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	382					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)		TGCCCCAGTTCCTCATTGAGC	0.423000														20			18		0	0	0.00074312	0	0
C12orf50	160419	broad.mit.edu	37	12	88420737	88420737	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:88420737C>T	uc001tam.1	-	1	171	c.3G>A	c.(1-3)atG>atA	p.M1I	C12orf50_uc001tan.3_Missense_Mutation_p.M55I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	1										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCTGCATTTCCATGTGTCTAA	0.388000														60			20		0	0	0.000295444	0	0
OR51G1	79324	broad.mit.edu	37	11	4944713	4944713	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:4944713G>A	uc010qyr.2	-	0	857	c.857C>T	c.(856-858)cCa>cTa	p.P286L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAAGGGGTGGTACCAGCAG	0.453000														74			22		0	0	0.000375601	0	0
PLS3	5358	broad.mit.edu	37	X	114871204	114871204	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:114871204C>T	uc004eqe.3	+	7	939	c.805C>T	c.(805-807)Cca>Tca	p.P269S	PLS3_uc010nqg.3_Intron|PLS3_uc004eqd.3_Missense_Mutation_p.P269S|PLS3_uc011mtf.2_Missense_Mutation_p.P247S|PLS3_uc011mth.2_Missense_Mutation_p.P224S|PLS3_uc011mtg.2_Missense_Mutation_p.P242S	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	269	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GAAATTGTCTCCAGAAGAGCT	0.383000														18			104		0	0	0.000781405	0	0
C6orf221	154288	broad.mit.edu	37	6	74072881	74072881	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:74072881G>A	uc003pgt.4	+	1	286	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	78	KH; atypical.									NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CACGTGAATCGATTGGACCCT	0.572000														30			30		0	0	0.000409698	0	0
NYAP1	222950	broad.mit.edu	37	7	100085944	100085944	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:100085944C>T	uc003uvd.1	+	3	759	c.600C>T	c.(598-600)tcC>tcT	p.S200S	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	200																	CTAGGGGGTCCCGAGTAGCTG	0.637000														11			48		0	0	0.000781405	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951319	124951319	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:124951319C>T	uc010sau.2	+	7	948	c.697C>T	c.(697-699)Cca>Tca	p.P233S	SLC37A2_uc001qbn.3_Missense_Mutation_p.P233S|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.3_5'Flank	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	233					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)		TTTTCTAGACCCAGAAGATGT	0.587000														43			11		0	0	0.000673444	0	0
BRCA2	675	broad.mit.edu	37	13	32912842	32912842	+	Silent	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr13:32912842T>C	uc001uub.1	+	10	4577	c.4350T>C	c.(4348-4350)ttT>ttC	p.F1450F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1450					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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|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)		TAAATTTCTTTGATCAGAAAC	0.289000			"""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			95		0	0	0.000781405	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634093	70634093	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:70634093C>T	uc001xly.3	-	1	1801	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	SLC8A3_uc001xlw.3_Silent_p.K349K|SLC8A3_uc001xlx.3_Silent_p.K349K|SLC8A3_uc001xlz.3_Silent_p.K349K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	349					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)		AGGCACGGCTCTTCTGTTGGT	0.493000														21			37		0	0	0.00195071	0	0
OR4C3	256144	broad.mit.edu	37	11	48347263	48347263	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:48347263G>A	uc010rhv.2	+	0	771	c.771G>A	c.(769-771)ggG>ggA	p.G257G		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D256N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGCAGATGGGAGATGCAAAG	0.473000														70			9		0	0	0.000442599	0	0
ABCC8	6833	broad.mit.edu	37	11	17434947	17434947	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:17434947C>T	uc001mnc.3	-	19	2595	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	823	ABC transporter 1.				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)	TAACCCGTTCCCCAATCTGGG	0.552000														167			45		0	0	0.000781405	0	0
C6orf165	154313	broad.mit.edu	37	6	88125461	88125461	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:88125461G>A	uc003plv.3	+	4	464	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	C6orf165_uc003plu.2_Missense_Mutation_p.R114Q|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	114										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)		TCTGTTACCCGAGAAATTACA	0.398000														21			31		0	0	0.00058488	0	0
ZNF99	7652	broad.mit.edu	37	19	22941498	22941498	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:22941498C>T	uc021urt.1	-	3	1368	c.1213G>A	c.(1213-1215)Gct>Act	p.A405T		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				CACTTAAAAGCTTTACCACAT	0.378000														34			8		0	0	0.000157383	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386965	8386966	+	RNA	DNP	CC	TT	TT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:8386965_8386966CC>TT	uc010sgk.2	-	3		c.490_491GG>AA								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TGGCAGGCAGCCAGCCTCCGCA	0.599000														48			6		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9074625	9074625	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:9074625G>A	uc002mkp.3	-	2	13025	c.12821C>T	c.(12820-12822)cCa>cTa	p.P4274L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4276	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4274S(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						GGTAACCAATGGAGATGTGGC	0.483000														20			29		0	0	0.00178596	0	0
MYT1	4661	broad.mit.edu	37	20	62871117	62871117	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:62871117C>T	uc002yii.3	+	21	3462	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	MYT1_uc002yij.3_Missense_Mutation_p.S692F	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1033					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)					GCACAGATCTCCTCCATGGAG	0.587000														20			30		0	0	0.000339439	0	0
RPL11	6135	broad.mit.edu	37	1	24022389	24022390	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:24022389_24022390CC>TT	uc001bhk.3	+	4	543_544	c.498_499CC>TT	c.(496-501)ttccag>ttTTag	p.Q167*	RPL11_uc001bhl.3_Nonsense_Mutation_p.Q166*	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	167					endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.F166L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGCGCTGGTTCCAGCAGAAGGT	0.490000														5			4		0	0	6.4e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32065092	32065092	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:32065092G>A	uc003nzl.2	-	2	740	c.538C>T	c.(538-540)Cca>Tca	p.P180S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	180					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						GCTGAGGGTGGGGAAGAGGGA	0.632000														79			95		0	0	0.000781405	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582535	24582535	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:24582535G>A	uc011djo.2	-	5	1633	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	KIAA0319_uc011djp.2_Missense_Mutation_p.P333L|KIAA0319_uc003neh.1_Missense_Mutation_p.P378L|KIAA0319_uc011djq.1_Missense_Mutation_p.P369L|KIAA0319_uc011djr.1_Missense_Mutation_p.P378L|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	378	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.H377fs*9(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTAGTCTGTGGGGTGGCTTAT	0.383000														96			66		0	0	0.000781405	0	0
ILVBL	10994	broad.mit.edu	37	19	15234284	15234284	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:15234284G>A	uc002nam.3	-	2	360	c.239C>T	c.(238-240)cCg>cTg	p.P80L	ILVBL_uc010dzx.1_Missense_Mutation_p.P80L	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	80						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						CACCAGCAGCGGGGAAATGTG	0.637000														38			17		0	0	0.00074312	0	0
HLCS	3141	broad.mit.edu	37	21	38126705	38126705	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:38126705G>A	uc010gnb.3	-	11	3437	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y	HLCS_uc021wjb.1_Missense_Mutation_p.H675Y|HLCS_uc002yvs.3_Missense_Mutation_p.H675Y	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	675					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)	CTGCCCAGATGGACTTGCTGA	0.547000														20			8		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21231990	21231990	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:21231990C>A	uc002red.3	-	25	7878	c.7750G>T	c.(7750-7752)Ggg>Tgg	p.G2584W		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2584					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)	ACAGTGAACCCTTGCTCTACC	0.448000														548			14		0.000566183	0.00431112	0.000566183	1	0
COL9A1	1297	broad.mit.edu	37	6	70983758	70983758	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:70983758C>T	uc003pfg.4	-	11	1216	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.G110R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	353	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G353V(1)|p.R352C(1)		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						ACTGGAAATCCACGCGATCCA	0.289000														16			14		0	0	0.00074312	0	0
BTK	695	broad.mit.edu	37	X	100615121	100615121	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:100615121G>A	uc010nno.2	-	8	1129	c.896C>T	c.(895-897)cCt>cTt	p.P299L	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Missense_Mutation_p.P265L|BTK_uc010nnn.2_Missense_Mutation_p.P265L|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Missense_Mutation_p.P265L	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	265	SH2.				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						ATAGTTACTAGGAATGTAGCC	0.468000									Agammaglobulinemia, X-linked					16			61		0	0	0.000781405	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396134	38396134	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:38396134C>T	uc022bgy.1	+	0	389	c.389C>T	c.(388-390)cCt>cTt	p.P130L	ALDH1B1_uc004aay.3_Missense_Mutation_p.P130L	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	130					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.K129N(1)		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)	AATGGGAAGCCTTTCCAAGAG	0.577000														33			62		0	0	0.000781405	0	0
P2RX3	5024	broad.mit.edu	37	11	57115699	57115699	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:57115699C>T	uc001nju.3	+	4	631	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	149					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CCTGTGAGATCCAGGGCTGGT	0.622000														7			5		0	0	0.000602214	0	0
AHNAK	79026	broad.mit.edu	37	11	62287339	62287339	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:62287339G>A	uc001ntl.3	-	4	14850	c.14550C>T	c.(14548-14550)tcC>tcT	p.S4850S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4850					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)				CATCAGGTATGGAGATCTTGG	0.433000														71			20		0	0	0.000295444	0	0
MIA2	117153	broad.mit.edu	37	14	39721990	39721990	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:39721990G>A	uc001wux.3	+	4	1800	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	145						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAGAATTCACGAAGAAGTATA	0.378000														41			49		0	0	0.000781405	0	0
C11orf45	219833	broad.mit.edu	37	11	128773324	128773324	+	Silent	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:128773324T>C	uc001qeu.3	-	2	413	c.219A>G	c.(217-219)gtA>gtG	p.V73V	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.V73V|C11orf45_uc001qev.3_Silent_p.V73V	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	73						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		AGGTTCTGGTTACTATGGCAT	0.552000														30			12		0	0	0.00185496	0	0
SIM1	6492	broad.mit.edu	37	6	100841546	100841546	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:100841546G>A	uc003pqj.4	-	9	1854	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y	SIM1_uc021zdg.1_Missense_Mutation_p.H463Y|SIM1_uc010kcu.3_Missense_Mutation_p.H463Y	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	463	Single-minded C-terminal.				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)		GCCTGGGTATGGAAATGCCTC	0.632000														28			24		0	0	0.000375601	0	0
PCDH15	65217	broad.mit.edu	37	10	56128965	56128965	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:56128965T>A	uc010qhy.1	-	5	799	c.404A>T	c.(403-405)tAc>tTc	p.Y135F	PCDH15_uc010qhq.2_Missense_Mutation_p.Y135F|PCDH15_uc010qhr.2_Missense_Mutation_p.Y130F|PCDH15_uc021pqv.1_Missense_Mutation_p.Y130F|PCDH15_uc021pqw.1_Missense_Mutation_p.Y135F|PCDH15_uc010qht.2_Missense_Mutation_p.Y130F|PCDH15_uc021pqx.1_Missense_Mutation_p.Y130F|PCDH15_uc001jjv.1_Missense_Mutation_p.Y108F|PCDH15_uc021pqy.1_Missense_Mutation_p.Y130F|PCDH15_uc021pqz.1_Missense_Mutation_p.Y108F|PCDH15_uc010qhv.1_Missense_Mutation_p.Y130F|PCDH15_uc010qhw.1_Missense_Mutation_p.Y130F|PCDH15_uc010qhx.1_Missense_Mutation_p.Y130F|PCDH15_uc010qhz.1_Missense_Mutation_p.Y130F|PCDH15_uc010qia.1_Missense_Mutation_p.Y108F|PCDH15_uc001jju.1_Missense_Mutation_p.Y130F|PCDH15_uc010qib.1_Missense_Mutation_p.Y108F|PCDH15_uc001jjw.3_Missense_Mutation_p.Y130F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	130	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	p.R134Q(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)				CACTTCATGGTAGATAATAGT	0.413000										HNSCC(58;0.16)				13			21		0	0	0.00152264	0	0
ELFN2	114794	broad.mit.edu	37	22	37771217	37771217	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:37771217C>T	uc003asq.4	-	2	1144	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ELFN2_uc021wph.1_Missense_Mutation_p.E120K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	120						cell surface|integral to membrane		p.E120K(2)		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)					AGCATGCCCTCCGTCAGGTTG	0.622000														20			28		0	0	0.00127121	0	0
PAPL	390928	broad.mit.edu	37	19	39591436	39591436	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:39591436C>T	uc002oki.3	+	6	1024	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PAPL_uc010egl.3_Missense_Mutation_p.S209F	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	250						extracellular region	acid phosphatase activity|metal ion binding										ATTTCTTTCTCCATTATGGCC	0.617000														22			6		0	0	8.12818e-05	0	0
TPM2	7169	broad.mit.edu	37	9	35689769	35689769	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:35689769C>T	uc003zxq.3	-	0	285	c.46G>A	c.(46-48)Gag>Aag	p.E16K	TPM2_uc003zxs.3_Missense_Mutation_p.E16K|TPM2_uc010mkz.3_Missense_Mutation_p.E16K|TPM2_uc011lpa.2_Missense_Mutation_p.E16K	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	16					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)			ATGGCGTTCTCCTTGTCCAGC	0.672000														64			77		0	0	0.000781405	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	A	A	rs142743963	byFrequency	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:4869859G>A	uc010qyo.2	-	0	580	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000														36			37		0	0	0.000814825	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604253	124604253	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:124604253G>A	uc003pzo.3	+	1	434	c.157G>A	c.(157-159)Gga>Aga	p.G53R	NKAIN2_uc003pzn.1_Missense_Mutation_p.G53R|NKAIN2_uc010keq.3_Missense_Mutation_p.G53R|NKAIN2_uc003pzp.3_Missense_Mutation_p.G52R|NKAIN2_uc010ker.3_5'UTR|NKAIN2_uc010kep.1_Non-coding_Transcript	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	53						integral to membrane|plasma membrane		p.G53R(2)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGTTTGTTTGGAACTATTCA	0.353000														38			19		0	0	0.000958276	0	0
GPR152	390212	broad.mit.edu	37	11	67219614	67219614	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:67219614C>T	uc001olm.3	-	0	587	c.582G>A	c.(580-582)agG>agA	p.R194R	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	194						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)			CCTCCAGCATCCTCAGCGACA	0.657000														30			10		0	0	0.000978159	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364076	92364076	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:92364076C>T	uc003yez.3	+	9	1418	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	SLC26A7_uc003yex.3_Silent_p.V393V|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.V393V	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	393						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)			TCCTTATAGTCATCTATGCAA	0.338000														104			72		0	0	0.000781405	0	0
SPAG17	200162	broad.mit.edu	37	1	118534050	118534050	+	Silent	SNP	G	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:118534050G>T	uc001ehk.2	-	36	5531	c.5463C>A	c.(5461-5463)ctC>ctA	p.L1821L	SPAG17_uc021osr.1_Silent_p.L331L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1821						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)		TAACCAGCTTGAGGAGATCAG	0.363000														29			24		7.07758e-08	5.50628e-07	0.000720815	1	0
PPIL2	23759	broad.mit.edu	37	22	22040799	22040799	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:22040799G>A	uc010gtj.1	+	10	858	c.742G>A	c.(742-744)Gct>Act	p.A248T	PPIL2_uc002zvh.4_Missense_Mutation_p.A248T|PPIL2_uc002zvi.4_Missense_Mutation_p.A248T|PPIL2_uc002zvg.4_Missense_Mutation_p.A248T|PPIL2_uc011aij.2_Missense_Mutation_p.A227T|PPIL2_uc002zvk.4_5'UTR	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	248					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)					GAAGGTCAGCGCTTCCTTCAC	0.612000														13			27		0	0	0.00106085	0	0
SI	6476	broad.mit.edu	37	3	164785148	164785148	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:164785148C>T	uc003fei.3	-	5	678	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	205	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	CGTTGCTTTTCCTAATAACTT	0.308000										HNSCC(35;0.089)				18			27		0	0	0.000878237	0	0
PPYR1	5540	broad.mit.edu	37	10	47086833	47086833	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:47086833G>A	uc001jee.3	+	2	469	c.50G>A	c.(49-51)gGt>gAt	p.G17D	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.G17D|PPYR1_uc021ppu.1_Missense_Mutation_p.G17D	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	17					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCACAAGGTGAAAACAGA	0.483000														38			22		0	0	0.00047179	0	0
HEATR4	399671	broad.mit.edu	37	14	73962038	73962038	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:73962038C>T	uc021rwe.1	-	15	3027	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	HEATR4_uc021rwf.1_Silent_p.E846E	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											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)		CCATGACCATCTCCAGCTTGA	0.373000														9			24		0	0	0.000878237	0	0
PCLO	27445	broad.mit.edu	37	7	82585079	82585080	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:82585079_82585080GG>AA	uc003uhx.2	-	4	5478_5479	c.5189_5190CC>TT	c.(5188-5190)tcc>tTT	p.S1730F	PCLO_uc003uhv.2_Missense_Mutation_p.S1730F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1661					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						CTGATGTAGGGGATGTACCAGG	0.500000														68			53		0	0	6.4e-05	0	0
PRLR	5618	broad.mit.edu	37	5	35065986	35065986	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:35065986G>A	uc003jjm.3	-	9	1633	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.S257S|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	358					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	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)	CAGACAAAAGGGAAGGGCTGT	0.498000														22			21		0	0	0.00188189	0	0
APC2	10297	broad.mit.edu	37	19	1466377	1466377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:1466377G>A	uc002lsr.1	+	14	3285	c.3077G>A	c.(3076-3078)cGg>cAg	p.R1026Q	APC2_uc002lss.1_Missense_Mutation_p.R608Q|APC2_uc002lst.1_Missense_Mutation_p.R1026Q|APC2_uc002lsu.1_Missense_Mutation_p.R1025Q|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1026					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|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)		CCAGGGGCCCGGAAGCAGGCC	0.667000														5			6		0	0	8.12818e-05	0	0
HERC3	8916	broad.mit.edu	37	4	89627995	89627995	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:89627995C>T	uc003hrw.1	+	25	3203	c.3037C>T	c.(3037-3039)Ccg>Tcg	p.P1013S	HERC3_uc011cdn.1_Missense_Mutation_p.P895S|HERC3_uc011cdo.1_Missense_Mutation_p.P457S|FAM13A-AS1_uc003hry.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	1013	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.P1013L(1)		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)		GGAGTACTTGCCGGTGGCCCA	0.577000											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			29		0	0	0.00178596	0	0
DSCAM	1826	broad.mit.edu	37	21	41711158	41711158	+	Silent	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:41711158C>A	uc002yyq.1	-	6	1847	c.1395G>T	c.(1393-1395)gtG>gtT	p.V465V	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	465	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)				GGTAGCTGACCACGTTCCCCT	0.612000														28			10		1.58986e-06	1.2269e-05	0.000673444	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526135	176526135	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:176526135C>T	uc001gkz.3	+	1	1841	c.677C>T	c.(676-678)tCc>tTc	p.S226F	PAPPA2_uc001gky.1_Missense_Mutation_p.S226F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	226					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						CCCAAGCATTCCCTTAAACAC	0.547000														57			51		0	0	0.000781405	0	0
SIRT5	23408	broad.mit.edu	37	6	13592077	13592077	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:13592077C>T	uc003nay.3	+	4	738	c.426C>T	c.(424-426)atC>atT	p.I142I	SIRT5_uc003naw.3_Silent_p.I142I|SIRT5_uc003nax.3_Silent_p.I34I|SIRT5_uc011dit.2_Silent_p.I142I	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	142	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CCCAGAACATCGATGAGCTGC	0.622000														22			21		0	0	0.000586117	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105632	11105632	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:11105632G>A	uc010dxp.3	+	9	1908	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	SMARCA4_uc010dxo.3_Silent_p.K516K|SMARCA4_uc002mqf.4_Silent_p.K516K|SMARCA4_uc002mqg.1_Silent_p.K516K|SMARCA4_uc010dxq.3_Silent_p.K516K|SMARCA4_uc010dxr.3_Silent_p.K516K|SMARCA4_uc002mqj.4_Silent_p.K516K|SMARCA4_uc010dxs.3_Silent_p.K516K|SMARCA4_uc002mqe.2_Silent_p.K516K	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	516	HSA.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|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	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|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)				GGGAGCAGAAGAAAGAGAACG	0.547000			"""F, N, Mis"""		NSCLC									11			7		0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179495873	179495873	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179495873C>A	uc021vsy.1	-	185	36423	c.36198G>T	c.(36196-36198)aaG>aaT	p.K12066N	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K5761N|TTN_uc021vta.1_Missense_Mutation_p.K5694N|TTN_uc021vtb.1_Missense_Mutation_p.K5569N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12993	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)			TGCCATCTGCCTTAATAACAG	0.398000														63			19		2.35188e-11	1.83472e-10	0.00074312	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751283	19751283	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr13:19751283C>T	uc009zzj.3	-	3	945	c.840G>A	c.(838-840)aaG>aaA	p.K280K		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	280					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.K280M(1)		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)		CGTGGTAGGCCTTCTCGGCTG	0.602000														27			38		0	0	0.00128727	0	0
SETMAR	6419	broad.mit.edu	37	3	4355398	4355399	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:4355398_4355399GG>AA	uc011asp.2	+	1	1040_1041	c.973_974GG>AA	c.(973-975)ggc>AAc	p.G325N	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.G312N|SETMAR_uc011asq.2_Missense_Mutation_p.G186N|SETMAR_uc003bpy.4_Missense_Mutation_p.G47N|SETMAR_uc011asr.2_Missense_Mutation_p.G69N|SETMAR_uc010hbx.3_Missense_Mutation_p.G120N	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	312	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CAGCATGTGTGGCTCAGCCCCT	0.505000								Chromatin Structure						15			27		0	0	6.4e-05	0	0
JPH2	57158	broad.mit.edu	37	20	42744480	42744480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:42744480G>A	uc002xli.1	-	3	2708	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	JPH2_uc021wea.1_5'Flank	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	612	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)			TGCAGGCTCGGGGCCTCGGAG	0.741000														4			9		0	0	0.000274275	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892240	72892240	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:72892240T>A	uc003tyc.3	-	6	1903	c.1551A>T	c.(1549-1551)gaA>gaT	p.E517D		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	517	Lys-rich.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|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	p.E517Q(1)		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)				GACTTCGCAATTCTTCTGGGA	0.428000														82			46		0	0	0.000781405	0	0
BTN1A1	696	broad.mit.edu	37	6	26508792	26508792	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:26508792C>T	uc003nif.4	+	6	1028	c.971C>T	c.(970-972)tCt>tTt	p.S324F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	324	B30.2/SPRY.					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						GATTCAAAATCTGTTCGACTG	0.488000														122			31		0	0	0.000409698	0	0
OR4S2	219431	broad.mit.edu	37	11	55418983	55418983	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:55418983G>A	uc001nhs.1	+	0	604	c.604G>A	c.(604-606)Ggt>Agt	p.G202S		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S201I(1)		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)				AGCCAACAGTGGTACCATTGC	0.458000														67			68		0	0	0.000781405	0	0
POM121L12	285877	broad.mit.edu	37	7	53103527	53103527	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:53103527C>A	uc003tpz.3	+	0	179	c.163C>A	c.(163-165)Ctg>Atg	p.L55M		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	55								p.P54P(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCCCTGGCCCCTGAGGTCCCT	0.697000														19			16		1.78486e-19	1.40002e-18	0.000958276	1	0
CFH	3075	broad.mit.edu	37	1	196715099	196715099	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:196715099G>A	uc001gtj.4	+	20	3703	c.3463G>A	c.(3463-3465)Gga>Aga	p.G1155R	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1155	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						ATGTAGAAATGGACAATGGTC	0.388000														41			13		0	0	0.00074312	0	0
GRIA2	2891	broad.mit.edu	37	4	158256979	158256979	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:158256979G>A	uc003ipm.4	+	9	1882	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	GRIA2_uc011cit.2_Missense_Mutation_p.D428N|GRIA2_uc003ipl.4_Missense_Mutation_p.D475N|GRIA2_uc003ipk.4_Missense_Mutation_p.D428N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	475					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGGGGCCAGGGATGCAGACAC	0.423000														2			14		0	0	0.000308642	0	0
MRI1	84245	broad.mit.edu	37	19	13875469	13875469	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:13875469A>T	uc002mxe.3	+	0	133	c.67A>T	c.(67-69)Aag>Tag	p.K23*	MRI1_uc002mxf.3_Nonsense_Mutation_p.K23*	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	23					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GCTGCTGCCCAAGCAGAGCCG	0.726000														25			15		0	0	0.000308642	0	0
CHD2	1106	broad.mit.edu	37	15	93528899	93528899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:93528899C>T	uc002bsp.3	+	25	3984	c.3409C>T	c.(3409-3411)Cga>Tga	p.R1137*	CHD2_uc002bso.1_Nonsense_Mutation_p.R1137*	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1137					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)			TGCAGAGATCCGAAGGTTGGT	0.527000														72			31		0	0	0.00058488	0	0
DNM3	26052	broad.mit.edu	37	1	171890908	171890908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:171890908C>T	uc001gie.3	+	1	358	c.182C>T	c.(181-183)tCg>tTg	p.S61L	DNM3_uc001gid.4_Missense_Mutation_p.S61L|DNM3_uc009wwb.2_Missense_Mutation_p.S61L|DNM3_uc001gif.3_Missense_Mutation_p.S61L	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	61					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCGAGGGTCGGGCATTGTA	0.433000														15			7		0	0	0.000157383	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159492	57159492	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:57159492C>T	uc001cyk.4	+	4	601	c.530C>T	c.(529-531)cCa>cTa	p.P177L		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	177	Protein kinase.				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						TGCGGATCTCCAAATTATGCA	0.308000														129			95		0	0	0.000781405	0	0
CNOT1	23019	broad.mit.edu	37	16	58610468	58610468	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:58610468G>A	uc002env.3	-	13	1896	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.R535C|CNOT1_uc002enx.3_Missense_Mutation_p.R535C|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	535					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)		ATAAGTTGGCGAATTGAGGGA	0.408000														32			11		0	0	0.000673444	0	0
FAM181A	90050	broad.mit.edu	37	14	94394883	94394883	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:94394883C>T	uc001ybz.2	+	2	763	c.438C>T	c.(436-438)ggC>ggT	p.G146G	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.G84G|FAM181A_uc021saz.1_Silent_p.G84G|FAM181A_uc010aus.2_Silent_p.G84G|FAM181A_uc001yca.2_Silent_p.G84G	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	146										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGATTTGGGCCCTGATTCCA	0.652000														4			6		0	0	8.12818e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92525958	92525958	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:92525958G>A	uc001pdj.4	+	7	4654	c.4637G>A	c.(4636-4638)cGa>cAa	p.R1546Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1546	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)				TTTCCTTATCGAAGAAACTTG	0.418000										TCGA Ovarian(4;0.039)				297			108		0	0	0.000781405	0	0
NECAB2	54550	broad.mit.edu	37	16	84027966	84027966	+	Missense_Mutation	SNP	C	T	T	rs79514285	byFrequency	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:84027966C>T	uc002fhd.3	+	6	673	c.656C>T	c.(655-657)cCc>cTc	p.P219L	NECAB2_uc002fhe.3_Missense_Mutation_p.P136L	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	219					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						AGCCCCACTCCCGCCTCTGCC	0.617000														14			6		0	0	8.12818e-05	0	0
DMXL2	23312	broad.mit.edu	37	15	51758421	51758421	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:51758421C>T	uc010ufy.2	-	29	7705	c.7480G>A	c.(7480-7482)Gat>Aat	p.D2494N	DMXL2_uc002abd.3_Missense_Mutation_p.D564N|DMXL2_uc002abf.3_Missense_Mutation_p.D2493N|DMXL2_uc010bfa.3_Missense_Mutation_p.D1857N	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2493						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)		ATTTGTGTATCTGAAAAAAAG	0.318000														97			18		0	0	0.000958276	0	0
GRID2	2895	broad.mit.edu	37	4	94411794	94411794	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:94411794G>A	uc011cdt.2	+	11	2121	c.1863G>A	c.(1861-1863)ggG>ggA	p.G621G	GRID2_uc011cdu.2_Silent_p.G526G	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	621					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)	CTACAGGCGGGGAAGTCCCGT	0.423000														64			23		0	0	0.000586117	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832573	27832573	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:27832573G>A	uc001ric.2	+	19	2161	c.1784_splice	c.e19+1	p.K595_splice	PPFIBP1_uc010sjr.1_Splice_Site_p.K426_splice|PPFIBP1_uc001rib.2_Splice_Site_p.K589_splice|PPFIBP1_uc001ria.3_Splice_Site_p.K564_splice|PPFIBP1_uc001rid.2_Splice_Site_p.K442_splice|PPFIBP1_uc001rif.2_Splice_Site_p.K102_splice	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	595					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)					TCTTTGGAAAGTAAGTAAAGC	0.438000														69			17		0	0	0.000422831	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275011	2275011	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:2275011G>A	uc003slm.3	-	2	516	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Missense_Mutation_p.R9W	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	163					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TCGAGGTCCCGGAACCCTGTG	0.577000														30			14		0	0	0.000308642	0	0
FGF16	8823	broad.mit.edu	37	X	76709692	76709692	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:76709692C>T	uc011mqp.2	+	0	46	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	107					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						GATCAGCATCCGGGGAGTGGA	0.423000														1			9		0	0	0.00185496	0	0
PHF15	23338	broad.mit.edu	37	5	133914319	133914319	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:133914319C>T	uc003kzk.2	+	11	1903	c.1865C>T	c.(1864-1866)cCa>cTa	p.P622L	PHF15_uc011cxt.1_Missense_Mutation_p.P606L|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Missense_Mutation_p.P563L|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Missense_Mutation_p.P562L	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	562	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)			GACCCTGCTCCAGGGCTGCTG	0.617000														28			14		0	0	0.000422831	0	0
TRIM60	166655	broad.mit.edu	37	4	165962309	165962309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:165962309G>A	uc003iqy.1	+	2	1255	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	TRIM60_uc010iqx.1_Nonsense_Mutation_p.W362*|TRIM60_uc021xty.1_Nonsense_Mutation_p.W362*	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	362	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)		AAACCTAAATGGATATTGGGT	0.483000														49			59		0	0	0.000781405	0	0
RAB37	326624	broad.mit.edu	37	17	72667748	72667748	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:72667748C>T	uc010dfu.3	+	0	493	c.23C>T	c.(22-24)tCc>tTc	p.S8F	RAB37_uc002jlc.2_Missense_Mutation_p.S8F|RAB37_uc002jld.2_Missense_Mutation_p.S8F	NM_175738	NP_783865	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA.	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						AGACCCGATTCCTACCAGGGA	0.612000														29			18		0	0	0.000375601	0	0
GYPA	2993	broad.mit.edu	37	4	144940433	144940434	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:144940433_144940434CC>TT	uc003ijm.1	-	0	63_64	c.7_8GG>AA	c.(7-9)gga>AAa	p.G3K	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Non-coding_Transcript|GYPA_uc011chx.1_Non-coding_Transcript|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	3					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GATTATTTTTCCATACATCCTG	0.356000														34			5		0	0	6.4e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141751606	141751606	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:141751606C>T	uc002tvj.1	-	15	3574	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	868	LDL-receptor class A 3.				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)		AGGCAGTCATCGTCGCCATCA	0.438000										TSP Lung(27;0.18)				58			33		0	0	0.000491102	0	0
FAM5C	339479	broad.mit.edu	37	1	190195377	190195377	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:190195377T>C	uc001gse.1	-	5	1028	c.796A>G	c.(796-798)Aat>Gat	p.N266D	FAM5C_uc010pot.1_Missense_Mutation_p.N164D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	266						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)					CCCTCTGAATTGCAAGCAATG	0.428000														42			17		0	0	0.00188189	0	0
RSBN1L	222194	broad.mit.edu	37	7	77402515	77402515	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:77402515C>T	uc010ldt.1	+	5	1721	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	559						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						CAAGTGAGCCCCGTGAGATGC	0.388000														41			36		0	0	0.00128727	0	0
DNAH8	1769	broad.mit.edu	37	6	38862526	38862526	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:38862526G>A	uc021yzh.1	+	58	8742	c.8633G>A	c.(8632-8634)cGa>cAa	p.R2878Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R2661Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TTCAATCTTCGAGATCTTTCC	0.393000														37			32		0	0	0.000491102	0	0
TRIO	7204	broad.mit.edu	37	5	14304643	14304643	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:14304643A>G	uc003jff.3	+	7	1448	c.1442A>G	c.(1441-1443)gAa>gGa	p.E481G	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.E432G|TRIO_uc003jfh.1_Missense_Mutation_p.E130G	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	481					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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase 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)					CAGGACCTAGAAGATGCCATT	0.413000														59			19		0	0	0.000958276	0	0
RGNEF	64283	broad.mit.edu	37	5	73166004	73166004	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:73166004G>A	uc010izf.3	+	20	2712	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	RGNEF_uc011csq.2_Missense_Mutation_p.D846N|RGNEF_uc021yam.1_Missense_Mutation_p.D846N|RGNEF_uc011csr.2_Missense_Mutation_p.D533N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	846					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GCAGGAGAAGGATGTCATCAA	0.438000														8			18		0	0	0.000566183	0	0
MOGS	7841	broad.mit.edu	37	2	74689941	74689941	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:74689941G>A	uc010ffj.3	-	3	1138	c.975C>T	c.(973-975)acC>acT	p.T325T	MOGS_uc010ffh.3_Silent_p.T50T|MOGS_uc010yrt.2_Silent_p.T206T|MOGS_uc010ffi.3_Silent_p.T219T	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	325					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	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						GAATTTTCAGGGTCACCTGCT	0.567000														103			51		0	0	0.000781405	0	0
SDK2	54549	broad.mit.edu	37	17	71335026	71335026	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:71335026A>C	uc010dfm.3	-	44	6219	c.6219T>G	c.(6217-6219)ttT>ttG	p.F2073L	SDK2_uc002jjt.4_Missense_Mutation_p.F1213L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2073					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						AGTGGTTGACAAAGGAGTGGG	0.582000														16			14		0	0	0.000308642	0	0
OVGP1	5016	broad.mit.edu	37	1	111957780	111957780	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:111957780C>T	uc001eba.3	-	10	1399	c.1343G>A	c.(1342-1344)gGt>gAt	p.G448D	OVGP1_uc001eaz.3_Missense_Mutation_p.G410D|OVGP1_uc010owb.2_Missense_Mutation_p.G96D	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	448					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)		CACAGTTGTACCTCTAGGGGT	0.488000														26			35		0	0	0.000692331	0	0
IGF1R	3480	broad.mit.edu	37	15	99251218	99251218	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:99251218C>T	uc002bul.3	+	1	572	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_uc010urq.2_Silent_p.P174P|IGF1R_uc010bon.3_Silent_p.P174P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	174					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|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)	GGAATAAGCCCCCAAAGGAAT	0.517000														51			29		0	0	0.00127121	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414925	210414925	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:210414925G>A	uc001hhy.3	+	3	493	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SERTAD4_uc009xcw.3_Missense_Mutation_p.R105Q	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	105	SERTA.						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)		TTTGAGGAACGAGCCCACATC	0.328000														46			31		0	0	0.00058488	0	0
EFHD2	79180	broad.mit.edu	37	1	15752398	15752398	+	Silent	SNP	C	T	T	rs146542005		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:15752398C>T	uc001awh.2	+	1	417	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	114	EF-hand 1.					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)		CTTCATCGACCTGATGGAGCT	0.542000														68			19		0	0	0.000295444	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762786	176762786	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:176762786T>G	uc001gkz.3	+	19	6275	c.5111T>G	c.(5110-5112)aTg>aGg	p.M1704R	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1704	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						GAGCACTGGATGGAACCTGTC	0.478000														65			19		0	0	0.00121646	0	0
CD163	9332	broad.mit.edu	37	12	7639582	7639582	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:7639582C>T	uc001qsz.3	-	9	2179	c.2051_splice	c.e9-1	p.G684_splice	CD163_uc001qta.3_Splice_Site_p.G684_splice|CD163_uc009zfw.2_Splice_Site_p.G717_splice	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	684					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						GGACTGGTTTCCTGCAAACAC	0.458000														19			18		0	0	0.00074312	0	0
DEFB115	245929	broad.mit.edu	37	20	29847382	29847382	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:29847382G>A	uc002wvp.1	+	1	214	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	72					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAAAGAAAAGGATAAACTATC	0.348000														25			9		0	0	0.000274275	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906414	13906414	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:13906414C>T	uc001rbt.2	-	2	1026	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	283					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|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)	TCCCATTCATCATATGATACA	0.547000														31			9		0	0	0.000274275	0	0
WDR49	151790	broad.mit.edu	37	3	167245747	167245747	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:167245747G>A	uc003fev.1	-	10	1713	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_uc003feu.1_Missense_Mutation_p.S295L|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	470										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						AGGTTGGAATGATCTTATCAG	0.403000														17			29		0	0	0.000339439	0	0
ATP13A2	23400	broad.mit.edu	37	1	17327006	17327006	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:17327006G>A	uc001baa.2	-	8	919	c.729C>T	c.(727-729)ttC>ttT	p.F243F	ATP13A2_uc001bac.2_Silent_p.F238F|ATP13A2_uc001bab.2_Silent_p.F238F|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'UTR	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	243					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGAAGGCCTGGAACCCATAGT	0.647000														13			10		0	0	0.00185496	0	0
POLR2A	5430	broad.mit.edu	37	17	7401487	7401487	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:7401487C>T	uc002ghf.4	+	7	1679	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	POLR2A_uc002ghe.3_Silent_p.F431F	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	431					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|RNA-directed RNA polymerase activity|metal ion binding|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)				ACTTGCGTTTCCACCCCAAGC	0.557000														20			16		0	0	0.00121646	0	0
KIAA0753	9851	broad.mit.edu	37	17	6513386	6513386	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:6513386C>T	uc002gde.4	-	8	1999	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	KIAA0753_uc010vtd.2_Missense_Mutation_p.R3Q|KIAA0753_uc010clo.3_Missense_Mutation_p.R248Q|KIAA0753_uc010vte.2_Missense_Mutation_p.R248Q	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	547						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CACAGGCTGCCGGTTCATTTT	0.498000														46			38		0	0	0.00128727	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000														39			7		0	0	0.000157383	0	0
HOMER2	9455	broad.mit.edu	37	15	83523433	83523433	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:83523433G>A	uc002bjg.3	-	5	836	c.647C>T	c.(646-648)tCc>tTc	p.S216F	HOMER2_uc002bjh.3_Missense_Mutation_p.S205F	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	216					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ACGGCAGATGGAGAACTGCCT	0.627000														15			7		0	0	0.000157383	0	0
CLPB	81570	broad.mit.edu	37	11	72018283	72018283	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:72018283G>A	uc001osj.3	-	9	1222	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CLPB_uc010rqx.2_Missense_Mutation_p.A346V|CLPB_uc010rqy.2_Missense_Mutation_p.A332V|CLPB_uc001osk.3_Missense_Mutation_p.A361V|CLPB_uc010rqz.2_Missense_Mutation_p.A190V|CLPB_uc001osi.3_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	391					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						TGTCTGCTTGGCCAGCTCTGT	0.463000														228			74		0	0	0.000781405	0	0
C1orf144	26099	broad.mit.edu	37	1	16721553	16721554	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:16721553_16721554CC>TT	uc010ocb.1	+	2	494_495	c.317_318CC>TT	c.(316-318)ccc>cTT	p.P106L	C1orf144_uc001aym.4_Missense_Mutation_p.P126L|C1orf144_uc001ayi.4_Missense_Mutation_p.P107L|C1orf144_uc001ayk.4_Missense_Mutation_p.P106L|C1orf144_uc021ogn.1_5'Flank	NM_015609	NP_056424	Q7Z422	CA144_HUMAN	Homo sapiens chromosome 1 open reading frame 144 (C1orf144), transcript variant 2, mRNA.	126										cervix(1)|lung(1)|ovary(1)|urinary_tract(1)	4		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;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCCAACCCGAAGACAGCA	0.446000														32			13		0	0	6.4e-05	0	0
SPAG17	200162	broad.mit.edu	37	1	118537036	118537036	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:118537036G>A	uc001ehk.2	-	34	5239	c.5171C>T	c.(5170-5172)tCa>tTa	p.S1724L	SPAG17_uc021osr.1_Missense_Mutation_p.S234L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1724						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)		TACCTCAACTGAGGGAAATGT	0.403000														50			23		0	0	0.00047179	0	0
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:100674925C>T	uc003uxp.1	+	2	281	c.228C>T	c.(226-228)gtC>gtT	p.V76V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	76						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)					CTACAAATGTCGTGGAGCCAA	0.453000														18			42		0	0	0.000781405	0	0
BCL6B	255877	broad.mit.edu	37	17	6930932	6930932	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:6930932G>A	uc010clt.1	+	8	1496	c.1434G>A	c.(1432-1434)ggG>ggA	p.G478G	BCL6B_uc002geg.2_Silent_p.G478G	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	478						nucleus	zinc ion binding			skin(1)	1						TTCTCGGGGGGCCCTAGCTGA	0.622000														42			5		0	0	0.000602214	0	0
DNAH8	1769	broad.mit.edu	37	6	38867567	38867567	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:38867567C>T	uc021yzh.1	+	61	9188	c.9079C>T	c.(9079-9081)Cga>Tga	p.R3027*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.R2810*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						ACGAATAATTCGAACGTCGTG	0.368000														35			12		0	0	0.000308642	0	0
EIF2C1	26523	broad.mit.edu	37	1	36360862	36360862	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:36360862C>T	uc001bzl.3	+	7	1225	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	EIF2C1_uc001bzk.3_Missense_Mutation_p.P263S|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	338	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACCTACCTTCCCCTAGAGGT	0.443000														18			21		0	0	0.000295444	0	0
IGSF3	3321	broad.mit.edu	37	1	117146260	117146260	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:117146260G>A	uc001egq.1	-	6	2375	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	IGSF3_uc001egr.1_Missense_Mutation_p.S537F|IGSF3_uc001egs.1_Missense_Mutation_p.S210F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	537	Ig-like C2-type 5.					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)		AGCTGTGATGGAGATGGGAGT	0.577000														31			22		0	0	0.00047179	0	0
KCTD8	386617	broad.mit.edu	37	4	44176967	44176968	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:44176967_44176968CG>AT	uc003gwu.3	-	1	1545_1546	c.1261_1262CG>AT	c.(1261-1263)cgg>ATg	p.R421M		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	421						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						ATTTGTTTCCCGGGACTTGCTG	0.411000										HNSCC(17;0.042)				203			8		0	0	6.4e-05	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70422379	70422379	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:70422379G>A	uc002eyw.2	-	2	2712	c.604C>T	c.(604-606)Cct>Tct	p.P202S	ST3GAL2_uc002eyx.2_Missense_Mutation_p.P202S	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 2 (ST3GAL2), mRNA.	202					amino sugar metabolic process	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GCACTCTCAGGGTACATGAAA	0.592000														66			11		0	0	0.000978159	0	0
ODZ3	55714	broad.mit.edu	37	4	183696080	183696080	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:183696080G>A	uc003ivd.1	+	22	5153	c.5078G>A	c.(5077-5079)aGa>aAa	p.R1693K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1693					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GATCAGTTAAGAAACAGCTAC	0.438000														21			5		0	0	0.000602214	0	0
DDX39B	7919	broad.mit.edu	37	6	31504375	31504375	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:31504375G>A	uc003ntt.3	-	4	1176	c.518C>T	c.(517-519)cCa>cTa	p.P173L	DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Missense_Mutation_p.P173L|DDX39B_uc011dnn.2_Missense_Mutation_p.P95L|DDX39B_uc003ntv.3_Missense_Mutation_p.P173L|DDX39B_uc003ntw.2_Missense_Mutation_p.P173L|DDX39B_uc003ntx.2_Missense_Mutation_p.P173L|DDX39B_uc011dno.1_Missense_Mutation_p.P126L|DDX39B_uc011dnp.1_Missense_Mutation_p.P95L|SNORD117_uc003nty.1_5'Flank|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	173	Helicase ATP-binding.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATACGGCCTGGAGTCCCCAC	0.473000														51			22		0	0	0.00188189	0	0
SGSH	6448	broad.mit.edu	37	17	78184569	78184569	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:78184569G>A	uc002jxz.4	-	7	1278	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	SGSH_uc002jya.4_Silent_p.P194P|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	397					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|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)			CCTGGTCGATGGGAAAGGGCA	0.607000														59			23		0	0	0.000375601	0	0
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:10432765G>A	uc010coi.3	-	24	3279	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(2)|p.R1051H(1)		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						AGGTCCATGCGAAGTTTCTTT	0.383000														68			19		0	0	0.000375601	0	0
TDRD1	56165	broad.mit.edu	37	10	115973123	115973123	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:115973123G>A	uc001lbg.1	+	14	2003	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	TDRD1_uc001lbf.3_Missense_Mutation_p.G551E|TDRD1_uc001lbh.1_Missense_Mutation_p.G608E|TDRD1_uc001lbi.1_Missense_Mutation_p.G608E|TDRD1_uc010qsc.2_Missense_Mutation_p.G221E|TDRD1_uc001lbj.3_Missense_Mutation_p.G326E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	617					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)		CCATCATTAGGAATTTGGACT	0.348000														15			32		0	0	0.000339439	0	0
HGF	3082	broad.mit.edu	37	7	81392179	81392179	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:81392179C>T	uc003uhl.3	-	1	263	c.98G>A	c.(97-99)aGg>aAg	p.R33K	HGF_uc003uhm.3_Missense_Mutation_p.R33K|HGF_uc003uhn.1_Missense_Mutation_p.R33K|HGF_uc003uho.1_Missense_Mutation_p.R33K|HGF_uc003uhp.3_Missense_Mutation_p.R33K|HGF_uc022agw.1_Missense_Mutation_p.R33K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	33				QR -> HK (in Ref. 2; CAA34387).	epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCTTCTTTTCCTTTGTCCCTC	0.269000														27			9		0	0	0.000274275	0	0
MYH1	4619	broad.mit.edu	37	17	10404514	10404514	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:10404514C>T	uc002gmo.3	-	26	3745	c.3651G>A	c.(3649-3651)gtG>gtA	p.V1217V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1217						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GCTTCTGCTTCACTCGCTGCA	0.532000														34			29		0	0	0.00178596	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774328	140774328	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:140774328G>A	uc003lkd.2	+	0	2846	c.1948G>A	c.(1948-1950)Ggc>Agc	p.G650S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.G650S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	652	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)			CCAGGACCATGGCCAGCCCCC	0.667000														9			20		0	0	0.000375601	0	0
NEK2	4751	broad.mit.edu	37	1	211842669	211842669	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:211842669G>A	uc001hir.2	-	5	922	c.771C>T	c.(769-771)taC>taT	p.Y257Y	NEK2_uc021piq.1_Silent_p.Y257Y|NEK2_uc021pir.1_Silent_p.Y7Y|NEK2_uc001his.4_Silent_p.Y257Y|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	257	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AAGGTCGATGGTAATCCTGGG	0.373000														36			38		0	0	0.00148497	0	0
DDX41	51428	broad.mit.edu	37	5	176939793	176939793	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:176939793G>A	uc003mho.3	-	12	1408	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.H332Y|DDX41_uc003mhp.3_Missense_Mutation_p.H332Y|DDX41_uc003mhq.1_Missense_Mutation_p.H243Y	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	463	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein 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)			TTGCCCCCATGGATGGCTACG	0.587000														26			46		0	0	0.000781405	0	0
COL22A1	169044	broad.mit.edu	37	8	139791793	139791793	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:139791793C>T	uc003yvd.3	-	13	2110	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	555	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)			TCTCCCAGCTCTCCTGGCTCC	0.622000										HNSCC(7;0.00092)				52			15		0	0	0.00121646	0	0
GIF	2694	broad.mit.edu	37	11	59611434	59611434	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:59611434C>T	uc001noi.3	-	1	222	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GIF_uc010rkz.1_Silent_p.L58L	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	58					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCATGGCAATCAGGATGCTGG	0.542000														24			23		0	0	0.00047179	0	0
A2ML1	144568	broad.mit.edu	37	12	9002864	9002864	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:9002864C>T	uc001quz.4	+	17	2326	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	A2ML1_uc001qva.1_Missense_Mutation_p.P323L|A2ML1_uc010sgm.2_Missense_Mutation_p.P243L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	587						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						GATCTGTTTCCTATTGGGTAA	0.502000														38			12		0	0	0.000978159	0	0
RYR1	6261	broad.mit.edu	37	19	39062686	39062686	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:39062686G>A	uc002oit.3	+	94	13904	c.13774G>A	c.(13774-13776)Gac>Aac	p.D4592N	RYR1_uc002oiu.3_Missense_Mutation_p.D4587N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4592					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	AGGGGAGGACGACATGGAAGG	0.602000														30			17		0	0	0.00074312	0	0
CA2	760	broad.mit.edu	37	8	86389385	86389385	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:86389385G>C	uc003ydk.2	+	5	724	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	182					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGATCCTCGTGGCCTCCTTCC	0.502000														121			63		0	0	0.000781405	0	0
SCARF1	8578	broad.mit.edu	37	17	1538457	1538457	+	Silent	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:1538457C>T	uc002fsz.1	-	10	2138	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Silent_p.G610G	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	696	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)		CGCGGGGCTTCCCTGCCAGCA	0.632000														25			21		0	0	0.000375601	0	0
OR5P3	120066	broad.mit.edu	37	11	7846717	7846717	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:7846717G>A	uc010rbg.2	-	0	803	c.803C>T	c.(802-804)aCt>aTt	p.T268I		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	268					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)		GTTCTGGTCAGTTGAGTAGCT	0.517000														43			16		0	0	0.000566183	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872983	15872983	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:15872983C>T	uc002yju.1	-	5	717	c.635G>A	c.(634-636)gGa>gAa	p.G212E	SAMSN1_uc010gky.1_Missense_Mutation_p.G44E|SAMSN1_uc002yjv.1_Missense_Mutation_p.G280E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	212	SH3.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.V211V(1)		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)		TTTGAAGTTTCCCACTTTATT	0.388000														88			36		0	0	0.00111076	0	0
DRD2	1813	broad.mit.edu	37	11	113281470	113281470	+	Silent	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:113281470G>A	uc001pnz.3	-	6	1632	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	DRD2_uc010rwv.2_Silent_p.F436F|DRD2_uc001poa.4_Silent_p.F437F|DRD2_uc001pob.4_Silent_p.F408F	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	437					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)	GGATCTTCAGGAAGGCCTTGC	0.622000														76			23		0	0	0.000586117	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808853	18808853	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:18808853G>A	uc001bax.3	+	0	1430	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E242K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	460						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)		GGTGATGAGCGAAAACTACCT	0.642000														37			30		0	0	0.000409698	0	0
RNF213	57674	broad.mit.edu	37	17	78357707	78357707	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:78357707delC	uc002jyh.2	+	59	14591	c.14448delC	c.(14446-14448)atcfs	p.I4816fs	RNF213_uc021uen.1_Frame_Shift_Del_p.I4767fs|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	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)			GAGTGCCCATCCTCTGGCATT	0.507													---	52	---	---	40	---					
PSG9	5678	broad.mit.edu	37	19	43772101	43772101	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:43772101delT	uc002owd.4	-	1	364	c.265delA	c.(265-267)attfs	p.I89fs	PSG9_uc002owe.4_Frame_Shift_Del_p.I89fs|PSG9_uc010xwm.2_Frame_Shift_Del_p.I89fs|PSG9_uc002owf.4_Frame_Shift_Del_p.I89fs|PSG9_uc002owg.2_Frame_Shift_Del_p.I89fs	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	89	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)				CCATATATAATTATTTTACCA	0.433													---	147	---	---	83	---