Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IGSF10	285313	broad.mit.edu	37	3	151171555	151171555	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:151171555T>A	ENST00000282466.3	-	3	331	c.332A>T	c.(331-333)aAa>aTa	p.K111I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	111					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGCTCATTTTTAAGACCTA	0.303000													4	97					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37584273	37584273	+	Splice_Site	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:37584273A>T	ENST00000399151.3	+	7	867	c.780_splice	c.e7-1	p.D261_splice	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	261					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCTAATAGGATTCCAATGAG	0.507000													21	72					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77769767	77769767	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr16:77769767C>T	ENST00000268533.5	+	3	301	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	NUDT7_ENST00000568787.1_Missense_Mutation_p.R78C|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.R78C|NUDT7_ENST00000437314.3_Intron	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	78	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.R78C(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGAGGTAAGCGTGACCCTAC	0.517000													12	110					0	0	1	0	0
PCDHGA11	0	broad.mit.edu	37	5	140801597	140801597	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:140801597C>T	ENST00000398587.2	+	1	836	c.803C>T	c.(802-804)aCg>aTg	p.T268M	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T268M|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAATGCAACGGATCCAGAC	0.438000													10	113					0	0	1	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017482	26017482	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:26017482G>A	ENST00000244573.3	-	1	558	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	160					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CCTTGTTGCCGCAGGCTTTTT	0.448000													5	185					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363734	42363734	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:42363734A>G	ENST00000290472.3	-	16	1683	c.1589T>C	c.(1588-1590)aTt>aCt	p.I530T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	530	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGGAGAAAATGTTGCTCCA	0.567000													5	40					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:128528552C>G	ENST00000322313.4	-	2	162	c.4G>C	c.(4-6)Gct>Cct	p.A2P	WDR33_ENST00000409658.3_Missense_Mutation_p.A2P|WDR33_ENST00000393006.1_Missense_Mutation_p.A2P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408000													7	23					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	804	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCATCAGCCGTGACTATCCG	0.532000													7	63					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28609787	28609787	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr13:28609787C>G	ENST00000380982.4	-	12	1523	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	FLT3_ENST00000241453.7_Missense_Mutation_p.G481A|FLT3_ENST00000537084.1_Missense_Mutation_p.G481A			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	481					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCAGACTCCTTCTGTGAT	0.428000			"""Mis, O"""		"""AML, ALL"""								6	51					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415578	57415578	+	Silent	SNP	C	C	T	rs148044699		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr20:57415578C>T	ENST00000313949.7	+	1	806	c.417C>T	c.(415-417)acC>acT	p.T139T	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.T139T|GNAS_ENST00000371075.3_Silent_p.T139T			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCCGAGACCGAGCCTGAAG	0.652000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	53					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41766891	41766891	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:41766891T>A	ENST00000389629.4	+	9	1289	c.1277T>A	c.(1276-1278)cTg>cAg	p.L426Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	426	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AACAAAGGGCTGCAACTACGG	0.517000													21	74					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43006319	43006319	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:43006319C>T	ENST00000587309.1	-	12	1650	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	KIF18B_ENST00000438933.2_Missense_Mutation_p.D543N|KIF18B_ENST00000339151.4_Missense_Mutation_p.D543N|KIF18B_ENST00000590129.1_Missense_Mutation_p.D552N|KIF18B_ENST00000593135.1_Missense_Mutation_p.D531N	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGATCATGTCGGGCGTCAGG	0.592000													8	19					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37408549	37408549	+	Splice_Site	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:37408549C>G	ENST00000399215.1	-	10	2561	c.1188_splice	c.e10-1	p.V397_splice	SETD4_ENST00000399212.1_Splice_Site_p.V373_splice|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Splice_Site_p.V397_splice|AP000688.1_ENST00000600312.1_Intron			Q9NVD3	SETD4_HUMAN	SET domain containing 4	397				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ATATGAGACACCTGAAAGTTA	0.348000													14	107					0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659613	63659613	+	Silent	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:63659613C>T	ENST00000523211.1	+	4	528	c.396C>T	c.(394-396)taC>taT	p.Y132Y	NKAIN3_ENST00000328472.5_Silent_p.Y132Y|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	132						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATTACACGTACGTCTCTGTCA	0.493000													10	60					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110563058	110563058	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:110563058C>T	ENST00000337573.5	+	2	305	c.5C>T	c.(4-6)gCc>gTc	p.A2V	EBAG9_ENST00000531677.1_Missense_Mutation_p.A2V|EBAG9_ENST00000395785.2_Missense_Mutation_p.A2V|EBAG9_ENST00000529502.1_3'UTR	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	2					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACCATGGCCATCACCCAG	0.348000													3	43					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79369379	79369379	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:79369379C>A	ENST00000264895.6	+	44	6623	c.6183C>A	c.(6181-6183)caC>caA	p.H2061Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2060					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCTCCACGTGGACACAG	0.542000													8	21					2.17888e-05	2.33909e-05	1	1	0
CCDC116	164592	broad.mit.edu	37	22	21989079	21989079	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr22:21989079T>G	ENST00000292779.3	+	4	888	c.727T>G	c.(727-729)Tca>Gca	p.S243A		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	243										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTCCTGGTTCTCAGGGCTGCT	0.592000													27	66					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51412615	51412615	+	Silent	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:51412615C>T	ENST00000324041.1	-	2	116	c.117G>A	c.(115-117)ccG>ccA	p.P39P		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	39	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCTGCGAGTGCGGGCTGCAGT	0.637000													4	212					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909325	123909325	+	Silent	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:123909325C>T	ENST00000330487.5	-	1	392	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P128P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACCTGAGCGGGTAACTGA	0.562000													15	136					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:95403998G>A	ENST00000336148.5	-	10	1772	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393000								Direct reversal of damage;Homologous recombination					65	98					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173776622	173776622	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:173776622A>G	ENST00000356198.2	-	4	488	c.203T>C	c.(202-204)cTg>cCg	p.L68P	CENPL_ENST00000367710.3_Missense_Mutation_p.L68P|CENPL_ENST00000345664.6_Missense_Mutation_p.L68P	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	68					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTGTTTATGCAGAAGGAATGC	0.294000													15	37					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41112152	41112152	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:41112152A>C	ENST00000308370.7	+	8	1008	c.1008A>C	c.(1006-1008)agA>agC	p.R336S	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R299S|LTBP4_ENST00000396819.3_Missense_Mutation_p.R269S|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	336	TB 1.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTCCGAAAGAGTGAGCGCCC	0.632000													3	8					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982131	89982131	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:89982131A>G	ENST00000222511.6	+	2	101	c.33_splice	c.e2-1	p.Y12_splice	GTPBP10_ENST00000257659.8_Splice_Site_p.Y12_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	12					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTTAAGTATGGAAATTTC	0.368000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	16					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003117	176003117	+	Silent	SNP	C	C	T	rs141872147		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:176003117C>T	ENST00000510636.1	+	12	1399	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	CDHR2_ENST00000506348.1_Silent_p.Y375Y|CDHR2_ENST00000261944.5_Silent_p.Y375Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	375	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCACTGGCTACGTGGACGAGC	0.617000													12	36					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	29					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545515	57545515	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:57545515C>A	ENST00000311180.8	+	3	1717	c.1614C>A	c.(1612-1614)ttC>ttA	p.F538L	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	538							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CACATTTCTTCAAGCTGAAAA	0.398000													41	70					6.61955e-31	7.67027e-31	1	1	0
CD63	0	broad.mit.edu	37	12	56121076	56121076	+	Silent	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr12:56121076G>A	ENST00000549117.1	-	3	550	c.114C>T	c.(112-114)gtC>gtT	p.V38V	CD63_ENST00000546939.1_5'UTR|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000552692.1_Silent_p.V38V|CD63_ENST00000257857.4_Silent_p.V38V|CD63_ENST00000552754.1_Intron|CD63_ENST00000420846.3_Silent_p.V38V	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	38					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TCTGACTCAGGACAAGCTGTG	0.567000													10	57					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41313214	41313214	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:41313214C>A	ENST00000361937.3	-	26	3582	c.3158G>T	c.(3157-3159)gGg>gTg	p.G1053V	INO80_ENST00000401393.3_Missense_Mutation_p.G1053V|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1053	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCAGGGGCCCCATTCAACAA	0.522000													3	46					0.115264	0.115264	1	1	0
BTN2A3P	0	broad.mit.edu	37	6	26423271	26423271	+	RNA	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:26423271C>T	ENST00000466808.2	+	0	190																											CATGGAGGTGCGGTGGTTCCA	0.547000													9	58					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	397234	397234	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:397234G>A	ENST00000380956.4	+	5	745	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	207					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCACTGGCAAGGCCCAGCTTG	0.572000			T	IGH@	MM								10	56					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5803309	5803309	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:5803309A>G	ENST00000328090.5	+	19	7674	c.7049A>G	c.(7048-7050)aAt>aGt	p.N2350S		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2350																	CAGAGTGCAAATATCATTGAA	0.318000													11	53					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34739266	34739266	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:34739266C>A	ENST00000374789.3	-	5	1018	c.693G>T	c.(691-693)aaG>aaT	p.K231N	PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374776.1_Missense_Mutation_p.K231N|PARD3_ENST00000374788.3_Missense_Mutation_p.K231N|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Missense_Mutation_p.K231N|PARD3_ENST00000346874.4_Missense_Mutation_p.K231N|PARD3_ENST00000545693.1_Missense_Mutation_p.K231N|PARD3_ENST00000340077.5_Missense_Mutation_p.K231N|PARD3_ENST00000374773.1_Missense_Mutation_p.K231N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	231					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCTCCAGCCACTTGCCCACCA	0.478000													11	77					3.86212e-05	4.08601e-05	1	1	0
TPO	7173	broad.mit.edu	37	2	1457542	1457542	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:1457542C>A	ENST00000345913.4	+	6	650	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	187					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCTTCAGTCAGCCCCGAGG	0.602000													11	41					4.68919e-08	5.10912e-08	1	1	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													3	13					0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133772	118133772	+	Silent	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:118133772C>A	ENST00000278937.2	-	2	227	c.99G>T	c.(97-99)cgG>cgT	p.R33R	MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTCCAGCACCCGGGAGGTAT	0.458000													10	157					2.80697e-09	3.10468e-09	1	1	0
ZNF878	729747	broad.mit.edu	37	19	12155835	12155835	+	Silent	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:12155835G>A	ENST00000602107.1	-	5	521	c.522C>T	c.(520-522)tcC>tcT	p.S174S	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.S127S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CAAGGCTACTGGAATAACTAA	0.433000													7	51					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594849	55594849	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:55594849G>A	ENST00000378397.1	+	1	155	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.483000										HNSCC(27;0.073)			7	185					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90718518	90718518	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:90718518A>T	ENST00000257749.4	-	6	753	c.46T>A	c.(46-48)Tcc>Acc	p.S16T	BACH2_ENST00000537989.1_Missense_Mutation_p.S16T|BACH2_ENST00000343122.3_Missense_Mutation_p.S16T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	16						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGACTGTGGACTCATACACA	0.483000													8	49					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954691	140954691	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:140954691C>T	ENST00000253811.6	-	15	1624	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	DIAPH1_ENST00000520569.1_Missense_Mutation_p.R441Q|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R495Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R486Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R486Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R495Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R486Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R486Q			O60610	DIAP1_HUMAN	diaphanous-related formin 1	495					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTCATGTCGGGCTGTTAA	0.423000													4	43					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088705	86088705	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr14:86088705A>T	ENST00000330753.4	+	2	1614	c.847A>T	c.(847-849)Ata>Tta	p.I283L	FLRT2_ENST00000554746.1_Missense_Mutation_p.I283L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	283					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGGCTGGATATATCCAACAA	0.478000													4	202					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCACCTGTCGTCCAAGAAGG	0.502000													14	119					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27148061	27148061	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:27148061C>T	ENST00000396352.4	-	3	1004	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	HOXA3_ENST00000317201.2_Missense_Mutation_p.V269M|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	269					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCGGGGGGCACGGGGCTGCGA	0.612000													10	90					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911108	38911108	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:38911108T>C	ENST00000312150.4	-	1	476	c.416A>G	c.(415-417)gAc>gGc	p.D139G		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	139	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATTTTTAAGGTCATCAATTAT	0.343000													12	45					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955602	18955602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:18955602C>T	ENST00000302797.3	-	1	954	c.730G>A	c.(730-732)Gtg>Atg	p.V244M		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	244					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCCTGTCCACGTGGATCCAT	0.478000													11	41					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446863	226446863	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:226446863G>A	ENST00000272907.6	+	4	1143	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	244																	AGAGGAGCCCGTGTACATCGA	0.592000													18	88					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385014	41385014	+	Silent	SNP	G	G	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:41385014G>T	ENST00000400454.1	-	33	6463	c.5986C>A	c.(5986-5988)Cgg>Agg	p.R1996R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAATGGCCCCGGGAGTCGAGC	0.522000													3	58					6.4e-05	6.67429e-05	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	44					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													4	63					0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153391744	153391744	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:153391744C>A	ENST00000368729.4	+	3	322	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	S100A7A_ENST00000329256.2_Missense_Mutation_p.Q89K|S100A7A_ENST00000368728.2_Missense_Mutation_p.Q89K	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	89						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTACCACAAGCAGAGCCATGG	0.537000													12	68					9.05144e-12	1.01655e-11	1	1	0
ALOX15	246	broad.mit.edu	37	17	4535298	4535298	+	Silent	SNP	C	C	T	rs147458306	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:4535298C>T	ENST00000570836.1	-	14	1791	c.1695G>A	c.(1693-1695)ccG>ccA	p.P565P	ALOX15_ENST00000545513.1_Silent_p.P587P|ALOX15_ENST00000574640.1_Silent_p.P526P|ALOX15_ENST00000293761.3_Silent_p.P565P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	565	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TGGTGGTTGGCGGGGGCAGCC	0.602000													3	36					0	0	1	0	0
PMF1	11243	broad.mit.edu	37	1	156202161	156202161	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:156202161C>T	ENST00000368277.3	+	2	221	c.212C>T	c.(211-213)gCg>gTg	p.A71V	PMF1_ENST00000466489.1_3'UTR|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A71V|PMF1_ENST00000368279.3_Missense_Mutation_p.A71V|PMF1_ENST00000567140.1_Missense_Mutation_p.A71V|PMF1_ENST00000565805.1_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A71V|PMF1_ENST00000368273.4_Intron	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTGCAGCCTGCGATGACACAG	0.537000													4	148					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637000													4	68					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029174	102029174	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr13:102029174G>A	ENST00000251127.6	-	6	602	c.521C>T	c.(520-522)tCg>tTg	p.S174L	NALCN_ENST00000376200.5_Missense_Mutation_p.S174L|NALCN_ENST00000376196.3_Missense_Mutation_p.S174L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	174						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S174L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTTCTCCCGATCGCCTAGA	0.313000													33	89					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409753	159409753	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:159409753C>A	ENST00000423932.3	+	1	242	c.205C>A	c.(205-207)Ccc>Acc	p.P69T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	69					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTTCACACACCCATGTACTT	0.458000													24	85					2.32416e-17	2.65099e-17	1	1	0
RFC1	5981	broad.mit.edu	37	4	39291478	39291478	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:39291478G>A	ENST00000381897.1	-	24	3486	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	RFC1_ENST00000349703.2_Missense_Mutation_p.A1117V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1118					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTGATCATGGCATCAGTTTC	0.408000													4	96					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79747251	79747251	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:79747251G>A	ENST00000335016.5	+	2	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	BMP2K_ENST00000502871.1_Missense_Mutation_p.R80Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	80	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GCATTGAAGCGAATGTATGTC	0.363000													7	85					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155491263	155491263	+	Silent	SNP	T	T	C			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:155491263T>C	ENST00000368346.3	-	2	687	c.48A>G	c.(46-48)gaA>gaG	p.E16E	ASH1L_ENST00000392403.3_Silent_p.E16E|ASH1L_ENST00000548830.1_Silent_p.E16E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	16					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGAAAAACCTTCGGAATCAG	0.403000													4	153					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47814391	47814391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:47814391G>A	ENST00000378460.2	-	28	3443	c.3397C>T	c.(3397-3399)Cga>Tga	p.R1133*	NUP160_ENST00000530326.1_Nonsense_Mutation_p.R1019*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R1019*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1133					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CGAATAAGTCGTAAACAATTG	0.463000													10	103					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													3	29					0	0	1	0	0
PPP1R42	286187	broad.mit.edu	37	8	67925324	67925324	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:67925324C>T	ENST00000522909.1	-	4	488	c.304G>A	c.(304-306)Gga>Aga	p.G102R	PPP1R42_ENST00000324682.5_Missense_Mutation_p.G102R|PPP1R42_ENST00000517834.1_5'UTR			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	102																	TAATTGCCTCCCAGATACCTG	0.383000													17	59					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572755	11572755	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:11572755G>A	ENST00000262442.3	+	17	3065	c.2997G>A	c.(2995-2997)atG>atA	p.M999I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M999I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	999	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGAGAATGATGGGCCTCT	0.562000													8	32					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99022540	99022540	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:99022540C>T	ENST00000292478.4	-	6	1865	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A588T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A588T	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCGCCTTGGCCCCCTCCAGG	0.617000													3	36					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235222	137235222	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:137235222C>T	ENST00000508638.1	+	5	597	c.542C>T	c.(541-543)tCt>tTt	p.S181F	PKD2L2_ENST00000502810.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000508883.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S181F|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S147F	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	181						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTCTACTTCTAATACCAAC	0.353000													4	58					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aafs	p.K92fs	DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254													7	53	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	9	---	---	---	---					
RP11-584P21.2	0	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													3	4	---	---	---	---					
SGK223	0	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311	by1000genomes	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggccag>ggAGCGGCccag	p.350_351GQ>GAAQ	SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN		350							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653													3	5	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													8	66	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25310201	25310201	+	RNA	DEL	C	C	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:25310201delC	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							CCAAAAAAAACATTCCTTGGA	0.473													36	260	---	---	---	---					
AQR	9716	broad.mit.edu	37	15	35202391	35202400	+	Frame_Shift_Del	DEL	ACGAACTCGG	ACGAACTCGG	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:35202391_35202400delACGAACTCGG	ENST00000156471.5	-	17	1824_1833	c.1599_1608delCCGAGTTCGT	c.(1597-1608)acfs	p.TRVR533fs		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	533						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAACATCTGCACGAACTCGGGTTGGCCAGT	0.452													7	124	---	---	---	---					
CFD	1675	broad.mit.edu	37	19	859719	859719	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:859719delG	ENST00000327726.6	+	1	267	c.30delG	c.(28-30)ctfs	p.L10fs	CFD_ENST00000592860.1_Frame_Shift_Del_p.L10fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	10					complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGTTCTGGTCCTCCTAG	0.682													2	4	---	---	---	---					
