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
ANAPC4	29945	broad.mit.edu	37	4	25384881	25384881	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:25384881A>T	ENST00000315368.3	+	4	377		c.e4-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTCTTGTTTTAGTTTTGGCCT	0.343000													6	27					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18918498	18918498	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:18918498C>T	ENST00000317977.6	+	10	1597	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	SLC5A10_ENST00000395642.1_Silent_p.L342L|SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395645.3_Silent_p.L409L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	409					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGCGGGAGCTCCTGCTGGTGG	0.657000													3	51					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1						cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532000													10	257					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCCTTCTGGTACTTCTGTTTA	0.547000													19	823					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814108	76814108	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:76814108C>T	ENST00000529803.1	+	1	223	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	75					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGGACAAGCCGGGCAAGGT	0.622000													3	47					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57372286	57372286	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:57372286A>T	ENST00000607273.1	+	8	780		c.e8-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCCTGCTTTTAGTTAACAGCC	0.428000													5	142					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TTTGTTCCTTACGTTGCTGTG	0.537000													25	1217					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													11	1558					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18534919	18534919	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:18534919C>A	ENST00000336714.3	+	18	2465	c.2033C>A	c.(2032-2034)cCc>cAc	p.P678H	SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	678					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CAGGACATGCCCGAGTATGAA	0.483000													11	725					2.27111e-07	2.39988e-07	1	1	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													5	207					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067829	52067829	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:52067829C>T	ENST00000361781.2	-	10	1934	c.975G>A	c.(973-975)gcG>gcA	p.A325A	SGMS1_ENST00000429490.1_Silent_p.A156A	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	331					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTGGTCATGCGCTAAGAGAA	0.507000													5	321					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211143	38211143	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:38211143A>T	ENST00000379705.3	-	11	3688	c.2831T>A	c.(2830-2832)aTa>aAa	p.I944K	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	944	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCCTTTGGTATTATAGGAAC	0.453000													5	326					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35717254	35717254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:35717254G>A	ENST00000314888.9	-	19	2700	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	783					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACATGCTGCAGCAGCTCA	0.582000													6	241					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397952	125397952	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:125397952G>A	ENST00000536769.1	-	1	1942	c.366C>T	c.(364-366)gcC>gcT	p.A122A	UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.A122A|UBC_ENST00000538617.1_Silent_p.A122A			P0CG48	UBC_HUMAN	ubiquitin C	122	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGCTTTCCGGCAAAGATCA	0.547000													19	465					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557000													4	223					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363000													6	196					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530754	84530754	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:84530754G>A	ENST00000527857.1	+	0	776					NR_026851.1																						TTTTCCCACCGCATCACATTC	0.527000													5	401					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:2876174T>A	ENST00000520002.1	-	53	8414		c.e53-2		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378000													7	222					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGTTCTAGTTCCTTAAT	0.398000													7	679					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908827	123908827	+	Silent	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:123908827T>C	ENST00000330487.5	-	1	890	c.882A>G	c.(880-882)gtA>gtG	p.V294V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGCTTTCTTTACCTCCTTGT	0.438000													3	134					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66844677	66844677	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:66844677T>A	ENST00000379463.2	-	15	1209		c.e15-2		NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCACGGTAACTAAAAAAGAAT	0.343000													11	234					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16317206	16317206	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:16317206A>T	ENST00000291439.3	+	3	703	c.254A>T	c.(253-255)tAt>tTt	p.Y85F	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	85					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCTTTCCTCTATAAGGTGGTG	0.592000													8	678					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522000													16	39					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428000													6	387					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994250	106994250	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106994250G>A	ENST00000390624.2	-	0	96																											GGAAAACCCAGCACAGCCCCA	0.473000													4	395					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				14	587					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596049	41596049	+	Silent	SNP	A	A	G	rs149580014		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:41596049A>G	ENST00000330436.3	+	3	441	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	147					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCATCGAGGAACGCATCCAGG	0.697000													3	141					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35879085	35879085	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:35879085G>T	ENST00000339208.6	-	22	4043	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000345615.4_Silent_p.V1211V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000346661.4_Silent_p.V1289V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1301					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTTGGTTCGACACAGTTGA	0.517000													41	595					1.7489e-18	1.91725e-18	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42221515	42221515	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:42221515C>T	ENST00000221992.6	+	5	1214	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	367	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGGTCAGTCCCAGGCTGCAG	0.498000													5	610					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103372895	103372895	+	Splice_Site	SNP	T	T	A	rs35923887		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:103372895T>A	ENST00000520539.1	-	4	796		c.e4-2		UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTACCATCCTAAAAGCAAAG	0.323000													5	239					0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065065	62065065	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62065065C>T	ENST00000358585.1	-	2	174	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	41						extracellular region	binding			lung(1)|prostate(1)	2						AGGTTTACCGCAGCGTCACTT	0.438000													5	425					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	44					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													11	72					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577035	158577035	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:158577035G>A	ENST00000361284.1	+	1	807	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTCTCTTGAGAGAGATCAGC	0.478000													5	573					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343000													8	224					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107592482G>C	ENST00000393561.1	-	21	3522	c.3338C>G	c.(3337-3339)gCt>gGt	p.A1113G	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G			P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGGAATGAGCAGCATTGCA	0.567000													68	52					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692000													11	47					4.36969e-10	4.66555e-10	1	1	0
FAM198B	51313	broad.mit.edu	37	4	159092036	159092036	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:159092036A>T	ENST00000296530.8	-	2	1113	c.492T>A	c.(490-492)ccT>ccA	p.P164P	FAM198B_ENST00000585682.1_Silent_p.P164P|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Silent_p.P164P|FAM198B_ENST00000393807.5_Silent_p.P164P|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	164						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GAGCGTACCCAGGTGCTACAG	0.637000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	114					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165637	172165637	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:172165637G>T	ENST00000241256.2	-	1	609	c.567C>A	c.(565-567)ggC>ggA	p.G189G	GHSR_ENST00000427970.1_Silent_p.G189G	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	189					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAGGGTCGGTGCCGTTCTCGT	0.642000													6	91					5.9392e-07	6.24377e-07	1	1	0
CARD6	84674	broad.mit.edu	37	5	40854274	40854274	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:40854274C>G	ENST00000254691.5	+	3	3039	c.2840C>G	c.(2839-2841)tCc>tGc	p.S947C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	947					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCCGATCAGTCCAACCCATCC	0.512000													9	478					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													4	103					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88903976	88903976	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:88903976T>A	ENST00000237623.7	+	6	979	c.831T>A	c.(829-831)agT>agA	p.S277R	SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.S291R	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	291				SHEF -> GNSL (in Ref. 2).	biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACCCCAAAAGTAAGGAAGAAG	0.373000													4	109					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954569	30954569	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:30954569G>A	ENST00000376296.3	+	2	858	c.617G>A	c.(616-618)gGg>gAg	p.G206E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	206	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAGCACA	0.622000													4	210					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													6	216					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617000													31	71					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179994847	179994847	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:179994847A>T	ENST00000393356.1	+	11	1296		c.e11-1		CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTGTTTTAGATTTACTTT	0.403000													5	117					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													11	456					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459298	148459298	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:148459298C>T	ENST00000542281.1	+	4	922	c.476C>T	c.(475-477)gCc>gTc	p.A159V	AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000497524.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	159					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCAGGCTTGGCCAGTTTGCCA	0.458000													4	266					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134235291	134235291	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:134235291A>T	ENST00000358387.4	+	5	1624	c.999A>T	c.(997-999)ttA>ttT	p.L333F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	333					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTCTTTTTAATTAGTTTTA	0.403000													4	64					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750453	167750453	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:167750453T>C	ENST00000470487.1	-	9	1720	c.1031A>G	c.(1030-1032)gAg>gGg	p.E344G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	344	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTTCCTCCTCCAGGGCCTT	0.552000													4	342					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80856610	80856610	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:80856610A>T	ENST00000424347.2	+	4	788		c.e4-1		CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000277082.5_Splice_Site			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTTCCATTTTAGTTATTTGTC	0.338000													6	165					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156711	146156711	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:146156711G>A	ENST00000276816.4	-	4	1648	c.1462C>T	c.(1462-1464)Ccg>Tcg	p.P488S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATCTGTACGGCTTCTCTCCC	0.547000													5	367					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223163965	223163965	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:223163965A>T	ENST00000284476.6	+	4	703		c.e4-1		DISP1_ENST00000495684.1_Splice_Site	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)						diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTGTTTTGTAGTTATGCAGC	0.478000													5	185					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107148850	107148850	+	Missense_Mutation	SNP	C	C	T	rs138552159		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:107148850C>T	ENST00000262843.6	+	5	1615	c.1067C>T	c.(1066-1068)gCt>gTt	p.A356V	MID2_ENST00000443968.2_Missense_Mutation_p.A356V|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	356	COS.					centrosome|microtubule	ligase activity|zinc ion binding	p.A336D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAAAATATTGCTGAGAGGTCA	0.428000													6	916					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617000													8	145					0.307466	0.307466	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126676271	126676271	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:126676271C>T	ENST00000274473.6	+	5	535	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TATGTATAGGCGCAAGTCTCA	0.418000													5	472					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091410	106091410	+	RNA	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106091410C>T	ENST00000390543.2	-	0	483																											TGCACCTCCACGCCATCCACG	0.607000													8	1102					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93756124	93756124	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:93756124A>T	ENST00000265990.6	+	24	3617		c.e24-1			NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTGTTTTTAGTTGGTCCAG	0.358000													5	107					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:76380267A>T	ENST00000370014.3	+	11	1843		c.e11-1		SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323000													7	118					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846						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)					GCACACCTTTGCTCACCTCTA	0.463000													31	100					1.36161e-19	1.5007e-19	1	1	0
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488000													56	105					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553761	19553761	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:19553761C>A	ENST00000409832.3	+	1	397	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115								p.S115R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGGCAAGAGCAAAGTGGGCC	0.597000													21	330					2.24395e-52	2.51372e-52	1	1	0
SEPT2	4735	broad.mit.edu	37	2	242276907	242276907	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:242276907A>T	ENST00000391973.2	+	6	980	c.452A>T	c.(451-453)tAc>tTc	p.Y151F	SEPT2_ENST00000407971.1_Missense_Mutation_p.Y111F|SEPT2_ENST00000391971.2_Missense_Mutation_p.Y151F|SEPT2_ENST00000360051.3_Missense_Mutation_p.Y151F|SEPT2_ENST00000401990.1_Missense_Mutation_p.Y161F|SEPT2_ENST00000402092.2_Missense_Mutation_p.Y151F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	151					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGTTGCTTTTACTTTATTTCA	0.373000													6	404					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388000													7	178					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2828	2828	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:2828G>A	ENST00000387347.2	+	0	1158					NR_039705.1																						GGCGACCTCGGAGCAGAACCC	0.428000													5	30					0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418000													6	61					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14423	14423	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:14423G>A	ENST00000361681.2	-	1	250	c.251C>T	c.(250-252)tCa>tTa	p.S84L						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCTCAACCCCTGACCCCCATG	0.453000													5	29					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388000													6	147					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154562732	154562732	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:154562732G>A	ENST00000368474.4	-	7	2623	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	808					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTCACTGGGGTTACCTCTG	0.527000													5	109					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50827498	50827498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:50827498G>T	ENST00000540145.1	+	17	2807	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E798*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	798					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGCAATGTATGAGTGTAGAGA	0.438000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				16	282					2.35188e-11	2.53756e-11	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299000			T	BRAF	papillary thyroid								4	78					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTTGTTTTAGTTAATACAC	0.438000													4	117					0	0	1	0	0
CMC4	100272147	broad.mit.edu	37	X	154292310	154292310	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:154292310T>A	ENST00000369484.3	-	2	669		c.e2-2		MTCP1_ENST00000369476.3_3'UTR|CMC4_ENST00000369479.1_Splice_Site	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		TCCAGAAAACTAAAACAAGAA	0.338000													4	57					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627767	170627767	+	Missense_Mutation	SNP	A	A	G	rs6900202		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:170627767A>G	ENST00000476287.1	+	2	1397	c.1289A>G	c.(1288-1290)gAc>gGc	p.D430G	FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	430			D -> G (in dbSNP:rs6900202).		cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATGTATACAGACTCTGAACCC	0.512000													5	512					0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36935784	36935784	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:36935784T>A	ENST00000269554.3	-	5	988		c.e5-2		PIP4K2B_ENST00000311500.6_Splice_Site	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta						cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CACTATAAACTAGAATGGAAA	0.532000													5	242					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95751944	95751944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:95751944A>T	ENST00000414645.2	+	6	636	c.537A>T	c.(535-537)ttA>ttT	p.L179F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	179						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTACTGCTTTATTTGTTACAA	0.348000													5	257					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35							catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTTATTTTTTAGTTTCTTACT	0.313000													4	142					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175195	139175195	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:139175195C>A	ENST00000423192.1	+	9	1263	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	368					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTTACTGAGGCCTGAAGTGAG	0.393000			"""N, Splice, Mis"""		ETP ALL								4	430					0.014758	0.0149034	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118532064	118532064	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:118532064A>T	ENST00000311085.8	+	31	7537		c.e31-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTATTTTTAGTTGGTCCTT	0.388000													8	401					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													11	211					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11861228	11861228	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:11861228C>T	ENST00000376592.1	-	2	593	c.465G>A	c.(463-465)gcG>gcA	p.A155A	MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	155					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CTCCCCGCAGCGCCATGATGT	0.587000													3	107					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGTGACAGCGCTGGCGGCC	0.637000													45	69					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128723865	128723865	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:128723865A>T	ENST00000371113.4	+	23	2678	c.2513A>T	c.(2512-2514)tAc>tTc	p.Y838F	OCRL_ENST00000357121.5_Missense_Mutation_p.Y830F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	838	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTTTTCCGTTACTTGATGGCA	0.428000													6	371					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													8	680					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657000													5	175					0.00198382	0.00203341	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118525401	118525401	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:118525401A>T	ENST00000311085.8	+	29	7215		c.e29-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTTTTGTTAGTTTCTTCAC	0.368000													11	152					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628301	29628301	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:29628301T>A	ENST00000278882.3	+	6	683	c.303T>A	c.(301-303)agT>agA	p.S101R	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGCAAAAAGTAAAACAGCAG	0.353000													6	165					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													8	1127					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106110141G>A	ENST00000390545.2	-	0	476																											CCTCCACGCCGTCCACGTACC	0.617000													504	789					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623380	21623380	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:21623380A>G	ENST00000304418.3	-	1	842	c.805T>C	c.(805-807)Tac>Cac	p.Y269H		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATTAAGAAGTAGGAGATCAAG	0.488000													4	75					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGGCTTTCGATGTCTCTG	0.493000													8	1008					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572306	57572306	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:57572306G>A	ENST00000243077.3	+	27	4992	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1509					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAGTGGACCGGCCACAATGTC	0.622000													4	264					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													5	261					0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483000													7	260					0	0	1	0	0
ZCRB1	85437	broad.mit.edu	37	12	42711251	42711251	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:42711251T>A	ENST00000266529.3	-	5	409		c.e5-2		PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		ACCAAATAACTAAACAAGAGA	0.294000													6	77					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14005509	14005509	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:14005509A>T	ENST00000261643.3	+	4	651	c.574A>T	c.(574-576)Act>Tct	p.T192S	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	192					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTTCCTGCTTACTTCTGTTGG	0.473000													7	327					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49019264	49019264	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:49019264A>T	ENST00000226432.4	+	9	1369		c.e9-1		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTTCTGTTTAGTTCTGTGGC	0.378000													3	46					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:158059959A>T	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGTTTATAGTTGGTTACA	0.259000													3	21					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532309	92532309	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:92532309C>T	ENST00000298047.6	+	9	6147	c.6130C>T	c.(6130-6132)Cgt>Tgt	p.R2044C	FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2044	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCTTTGACCGTGAAGAACA	0.468000										TCGA Ovarian(4;0.039)			3	95					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020156	184020156	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:184020156A>T	ENST00000310118.4	+	6	1262		c.e6-1		EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_Splice_Site	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTACTTTTGTAGTTGTGTGAA	0.413000													4	93					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089442	9089442	+	Silent	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9089442A>G	ENST00000397910.4	-	1	2576	c.2373T>C	c.(2371-2373)ccT>ccC	p.P791P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	791	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGAGTCAGAGGGGAAGTTG	0.502000													34	1611					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190334800	190334800	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:190334800A>T	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTTCCCTCTAGTGTTTGTAT	0.428000													6	340					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771625	143771625	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:143771625A>T	ENST00000408898.2	+	1	351	c.313A>T	c.(313-315)Agt>Tgt	p.S105C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGTTTTTGAGTTTTGCACA	0.527000													8	426					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443000													6	255					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95242265	95242265	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:95242265G>T	ENST00000237853.4	-	5	1052	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	235					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTGTCTTTTTGATTGACACCA	0.468000													5	185					4.096e-09	4.35067e-09	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													6	406					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582703	82582703	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:82582703A>T	ENST00000423517.2	-	5	7903	c.7566T>A	c.(7564-7566)acT>acA	p.T2522T	PCLO_ENST00000333891.8_Silent_p.T2522T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2453					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						GTTTTTGTGTAGTTGTTGGAA	0.423000													6	216					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045089	102045089	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:102045089T>C	ENST00000549145.1	+	15	1508	c.1408T>C	c.(1408-1410)Tct>Cct	p.S470P	MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	457	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTGTGAAATCTCTGAAAACAT	0.428000													10	395					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426757	137426757	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:137426757G>T	ENST00000506684.1	+	5	1341	c.1105G>T	c.(1105-1107)Gcc>Tcc	p.A369S	WNT8A_ENST00000398754.1_Missense_Mutation_p.A351S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	351					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAAGGGCAGTGCCTGATAATA	0.502000													12	399					0.00136819	0.00140945	1	1	0
STON2	85439	broad.mit.edu	37	14	81743834	81743834	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:81743834C>A	ENST00000555447.1	-	6	2233	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	STON2_ENST00000267540.2_Silent_p.G607G	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	607	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTCTGCGAGCCCAGACAGGA	0.507000													16	157					5.3912e-06	5.63876e-06	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160091024	160091024	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:160091024C>A	ENST00000361216.3	+	3	249	c.160C>A	c.(160-162)Caa>Aaa	p.Q54K	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	54					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGCAAATACCAAGTGGACCT	0.517000													9	515					3.86212e-05	3.99866e-05	1	1	0
WFDC8	90199	broad.mit.edu	37	20	44181861	44181861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:44181861G>A	ENST00000357199.4	-	5	578	c.500C>T	c.(499-501)cCt>cTt	p.P167L	WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	167	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTGACATGAAGGTGGACACTC	0.488000													5	614					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581635	77581635	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:77581635G>A	ENST00000355619.5	-	5	1256	c.932C>T	c.(931-933)aCc>aTc	p.T311I	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	311					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTACAGATGGGTGGCAGGTAT	0.408000													5	99					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901678	54901678	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:54901678G>A	ENST00000293373.6	+	4	427	c.348G>A	c.(346-348)caG>caA	p.Q116Q	NCKAP1L_ENST00000545638.2_Silent_p.Q66Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	116					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGCCTGCCAGTGCCATTTTG	0.418000													4	641					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373729.1_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393000													5	280					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:52159702G>T	ENST00000354534.5	+	16	2970	c.2792G>T	c.(2791-2793)cGa>cTa	p.R931L	SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.R931L(2)|p.R931Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTGTCTTTCGAGTGTTGTGC	0.498000													6	1231					0.00909568	0.00923076	1	1	0
AGO4	192670	broad.mit.edu	37	1	36297167	36297167	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:36297167C>T	ENST00000373210.3	+	8	1233	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TACATACTTGCCACTCGAGGT	0.348000													3	80					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					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)		TAAGCTGGAACGGCTGGATAT	0.483000													205	119					1.07919e-67	1.21557e-67	1	1	0
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G	rs115791874	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597000													3	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065088	9065088	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9065088C>A	ENST00000397910.4	-	3	22561	c.22358G>T	c.(22357-22359)aGc>aTc	p.S7453I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7455	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGAGGTGCTGCTCAAACT	0.478000													5	716					0.184627	0.185532	1	1	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													9	182					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18958551	18958551	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:18958551A>T	ENST00000262803.5	+	3	643		c.e3-1		UPF1_ENST00000599848.1_Splice_Site	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)						cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTGATTTTTTAGTTACTGTGG	0.408000											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	104					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													4	89					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:183495733A>T	ENST00000367537.3	+	6	597	c.402A>T	c.(400-402)ttA>ttT	p.L134F	SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348000													4	97					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673739	36673739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:36673739G>A	ENST00000355114.5	-	5	1975	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CGTGTGAGCTGTGCGTGCTGT	0.468000													10	353					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443000													41	133					6.07928e-31	6.7365e-31	1	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105420396	105420396	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:105420396A>T	ENST00000258494.9	-	22	2783	c.2643T>A	c.(2641-2643)atT>atA	p.I881I	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	881	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TGTATGTGTTAATAAAAACAG	0.403000													6	289					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94043228	94043228	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:94043228A>T	ENST00000515393.1	-	23	2972	c.2973T>A	c.(2971-2973)taT>taA	p.Y991*	MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	991					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTCTTTTATATGGGCTAT	0.453000													8	236					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80764348	80764348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:80764348A>T	ENST00000458043.2	+	55	6594		c.e55-1		OTOGL_ENST00000547103.1_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGATTTTTAGGTAGGGAGT	0.308000													5	117					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408000													4	87					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423000													5	525					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397946	125397946	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:125397946C>T	ENST00000536769.1	-	1	1948	c.372G>A	c.(370-372)aaG>aaA	p.K124K	UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000538617.1_Silent_p.K124K			P0CG48	UBC_HUMAN	ubiquitin C	124	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.K124K(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTCCAGCTGCTTTCCGGCAA	0.542000													18	455					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6607201	6607201	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:6607201C>A	ENST00000433363.2	-	4	776	c.543G>T	c.(541-543)ctG>ctT	p.L181L	SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L|SLC13A5_ENST00000573648.1_Silent_p.L181L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	181						integral to membrane	citrate transmembrane transporter activity	p.L181L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTCACCTGGCAGCTCCTTGG	0.642000													6	50					3.86212e-05	3.99866e-05	1	1	0
OR4F4	26682	broad.mit.edu	37	15	102462642	102462642	+	Silent	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:102462642T>A	ENST00000326183.3	-	1	656	c.621A>T	c.(619-621)ctA>ctT	p.L207L		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGAGATGATTAGAAGAACAA	0.413000													7	1354					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCGATACTTTTCTCCAAATT	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			12	130					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433380	138433380	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:138433380A>T	ENST00000477593.1	-	8	1305	c.1232T>A	c.(1231-1233)gTa>gAa	p.V411E	PIK3CB_ENST00000289153.2_Missense_Mutation_p.V411E			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	411	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTCGTTTTTACTTTATCCAA	0.328000													4	41					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448000													85	141					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443000													77	99					1.53276e-45	1.70769e-45	1	1	0
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428000			T	RET	papillary thyroid								6	388					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:72420855A>T	ENST00000340595.3	+	18	2758		c.e18-1		SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTTCCTTCTAGTTTATACCC	0.323000													8	427					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13910666	13910666	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:13910666G>T	ENST00000254323.2	+	2	475	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	96							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGAGCACGATGCCCGGGTGCC	0.632000													9	234					1.04858e-14	1.13734e-14	1	1	0
ENTPD5	957	broad.mit.edu	37	14	74444079	74444079	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:74444079T>A	ENST00000334696.6	-	7	761		c.e7-2		ENTPD5_ENST00000557325.1_Splice_Site	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTCCTTTACCTAGAGAAAAAG	0.388000													4	77					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:178482598G>A	ENST00000355689.4	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507000													5	398					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	48					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								6	151					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448000													4	215					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	T	rs142498190		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:29632058A>T	ENST00000330927.4	-	2	724	c.570T>A	c.(568-570)agT>agA	p.S190R	EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338000													5	271					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31621496	31621496	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:31621496A>T	ENST00000295770.2	+	3	828	c.619A>T	c.(619-621)Att>Ttt	p.I207F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	207					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTTATTGCTATTGTACCAGG	0.398000													6	493					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:248262935C>T	ENST00000366478.2	+	3	595	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_ENST00000358120.2_Silent_p.S86S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542000													4	627					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655278	38655278	+	Missense_Mutation	SNP	G	G	C	rs45620037		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:38655278G>C	ENST00000443581.1	-	6	852	c.659C>G	c.(658-660)aCc>aGc	p.T220S	SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T220S	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	220			T -> I (in SSS1; dbSNP:rs45620037).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACTCGGAAGGTGCGTAAGGC	0.478000													3	24					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739504	62739504	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:62739504G>A	ENST00000371153.4	-	3	1650	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	424										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACGACTCCCTGGTCAAGAGTC	0.557000													4	462					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478000													5	655					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								6	108					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119624701	119624701	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:119624701T>A	ENST00000264235.8	-	7	1698		c.e7-2		GSK3B_ENST00000316626.5_Splice_Site	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCATACATCTAAAGAGAAAA	0.373000													6	250					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	326										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423000													14	787					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423000													5	527					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434473	179434473	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:179434473A>T	ENST00000589042.1	-	326	76610	c.76386T>A	c.(76384-76386)aaT>aaA	p.N25462K	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23821	Fibronectin type-III 85.						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)			TGTTTGTTTTATTAATTCCTG	0.383000													4	102					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632806	177632806	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:177632806T>A	ENST00000280193.2	-	4	968		c.e4-2		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCAAATAACTACAAAGAAGG	0.363000													8	227					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1266					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443000													6	143					0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468946	137468946	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:137468946A>T	ENST00000296980.2	-	6	855	c.555T>A	c.(553-555)taT>taA	p.Y185*	IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.Y153*|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	185	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TTTGGTATCTATATGGTAAAT	0.303000													4	241					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207884	121207884	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:121207884A>T	ENST00000264233.5	-	16	4022	c.3894T>A	c.(3892-3894)taT>taA	p.Y1298*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1298					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTTTGTTGTATAAGTACCTG	0.333000								DNA polymerases (catalytic subunits)					4	59					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233348	38233348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:38233348A>T	ENST00000558158.1	+	7	541		c.e7-1		TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A							integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCTTTCTTTAGGTTAAGTTA	0.488000													6	280					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963015	54963015	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:54963015C>T	ENST00000243052.3	+	4	711	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000394277.3_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	92					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CGGTCAGATGCCGTGCCTTCG	0.632000													4	529					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632000													15	31					8.24728e-16	8.99305e-16	1	1	0
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2							integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313000										HNSCC(25;0.065)			8	373					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9210552	9210552	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:9210552G>A	ENST00000327827.7	+	4	1008	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	204										endometrium(4)|large_intestine(2)|lung(2)	8						GCTAGTATAAGCGTGCGTTCG	0.433000													6	665					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15948196	15948196	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:15948196A>T	ENST00000217246.4	+	13	1302		c.e13-1		MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2											breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTGTTGTTAGATTTTGCAA	0.363000													6	155					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30973983	30973983	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:30973983C>T	ENST00000298139.5	+	20	2636	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	796	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACATACCATGCGGGCATGAGT	0.393000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				5	267					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373000													10	357					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95242266	95242266	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:95242266A>T	ENST00000237853.4	-	5	1051	c.702T>A	c.(700-702)aaT>aaA	p.N234K	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	234					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGTCTTTTTGATTGACACCAT	0.468000													4	183					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													6	159					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771624	143771624	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:143771624G>T	ENST00000408898.2	+	1	350	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTGTTTTTGAGTTTTGCAC	0.532000													7	418					1.6384e-10	1.75849e-10	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443000													27	85					0.00127121	0.00135322	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32725567C>T	ENST00000435145.2	-	4	801	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													3	21					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCGATACTTTTCTCCAAATT	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			4	93					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448000													47	67					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443000													28	40					3.65163e-15	4.1553e-15	1	1	0
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846						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)					GCACACCTTTGCTCACCTCTA	0.463000													45	97					6.4771e-29	7.91646e-29	1	1	0
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106110141G>A	ENST00000390545.2	-	0	476																											CCTCCACGCCGTCCACGTACC	0.617000													46	45					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488000													40	114					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88946959	88946959	+	Splice_Site	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:88946959T>G	ENST00000298786.4	+	9	2629		c.e9+2		FAM35A_ENST00000298784.1_Splice_Site			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A											endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GAGTGATAGGTAATATATCAG	0.368000													4	52					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2828	2828	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:2828G>A	ENST00000387347.2	+	0	1158					NR_039705.1																						GGCGACCTCGGAGCAGAACCC	0.428000													78	199					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					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)		TAAGCTGGAACGGCTGGATAT	0.483000													145	49					9.15414e-77	1.16187e-76	1	1	0
MT-ND6	4541	broad.mit.edu	37	MT	14423	14423	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:14423G>A	ENST00000361681.2	-	1	250	c.251C>T	c.(250-252)tCa>tTa	p.S84L						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCTCAACCCCTGACCCCCATG	0.453000													30	334					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15077	15077	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:15077G>A	ENST00000361789.2	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.111_111insK						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TTCTCTACTCAGAAACCTGAA	0.483000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	13	272					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs116284473	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32725572G>A	ENST00000435145.2	-	4	796	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557000													3	22					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522000													4	19					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	1748	1748	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrM:1748G>A	ENST00000387347.2	+	0	78					NR_039705.1																						AATAAAGTATAGGCGATAGAA	0.408000													34	207					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443000													7	187					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92430268	92430268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:92430268G>T	ENST00000370389.2	+	3	982	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	BRDT_ENST00000362005.3_Nonsense_Mutation_p.E93*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAGGCTTCAGAATGTATAGA	0.279000													3	37					1	1	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107592482G>C	ENST00000393561.1	-	21	3522	c.3338C>G	c.(3337-3339)gCt>gGt	p.A1113G	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G			P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGGAATGAGCAGCATTGCA	0.567000													24	26					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692000													17	76					2.48551e-13	2.73406e-13	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGTGACAGCGCTGGCGGCC	0.637000													51	69					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632000													42	40					7.63091e-17	8.99357e-17	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115973808	115973808	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:115973808T>C	ENST00000251864.2	+	16	2300	c.2147T>C	c.(2146-2148)gTa>gCa	p.V716A	TDRD1_ENST00000369280.1_Missense_Mutation_p.V716A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	716					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)		GACCAAACAGTAGATGTTGTG	0.363000													4	140					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3172134	3172134	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:3172134G>A	ENST00000381075.2	+	19	2007	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	PFKP_ENST00000381072.1_Missense_Mutation_p.A21T|PFKP_ENST00000381125.4_Missense_Mutation_p.A603T	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	603					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGCTGATGCCGCATACATTTT	0.647000													4	95					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657000													7	124					0.00198382	0.00204581	1	1	0
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617000													29	46					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151277140	151277140	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:151277140C>A	ENST00000367321.3	+	17	2010	c.1736C>A	c.(1735-1737)aCa>aAa	p.T579K		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	579	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTATTGGATACAAATGACCGA	0.483000													8	82					0.335167	0.335167	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18918498	18918498	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:18918498C>T	ENST00000317977.6	+	10	1597	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	SLC5A10_ENST00000395645.3_Silent_p.L409L|SLC5A10_ENST00000395643.2_Silent_p.L382L|SLC5A10_ENST00000395647.2_Silent_p.L425L|SLC5A10_ENST00000417251.2_Silent_p.L373L|SLC5A10_ENST00000395642.1_Silent_p.L342L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	409					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGCGGGAGCTCCTGCTGGTGG	0.657000													3	51					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1						cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532000													10	257					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814108	76814108	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:76814108C>T	ENST00000529803.1	+	1	223	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	75					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGGACAAGCCGGGCAAGGT	0.622000													3	47					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57372286	57372286	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:57372286A>T	ENST00000607273.1	+	8	780		c.e8-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCCTGCTTTTAGTTAACAGCC	0.428000													5	142					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18534919	18534919	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:18534919C>A	ENST00000336714.3	+	18	2465	c.2033C>A	c.(2032-2034)cCc>cAc	p.P678H	SEC23B_ENST00000377465.1_Missense_Mutation_p.P678H|SEC23B_ENST00000262544.2_Missense_Mutation_p.P678H|SEC23B_ENST00000377475.3_Missense_Mutation_p.P678H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	678					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CAGGACATGCCCGAGTATGAA	0.483000													11	725					2.27111e-07	2.5464e-07	1	1	0
SGMS1	259230	broad.mit.edu	37	10	52067829	52067829	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:52067829C>T	ENST00000361781.2	-	10	1934	c.975G>A	c.(973-975)gcG>gcA	p.A325A	SGMS1_ENST00000429490.1_Silent_p.A156A	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	331					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTGGTCATGCGCTAAGAGAA	0.507000													5	321					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211143	38211143	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:38211143A>T	ENST00000379705.3	-	11	3688	c.2831T>A	c.(2830-2832)aTa>aAa	p.I944K	TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	944	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCCTTTGGTATTATAGGAAC	0.453000													5	326					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397952	125397952	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:125397952G>A	ENST00000536769.1	-	1	1942	c.366C>T	c.(364-366)gcC>gcT	p.A122A	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.A122A|UBC_ENST00000339647.5_Silent_p.A122A			P0CG48	UBC_HUMAN	ubiquitin C	122	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGCTTTCCGGCAAAGATCA	0.547000													19	465					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557000													4	223					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:2876174T>A	ENST00000602557.1	-	53	8414		c.e53-2		CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378000													7	222					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581635	77581635	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:77581635G>A	ENST00000355619.5	-	5	1256	c.932C>T	c.(931-933)aCc>aTc	p.T311I	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	311					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTACAGATGGGTGGCAGGTAT	0.408000													5	99					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522000													16	39					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428000													6	387					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994250	106994250	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106994250G>A	ENST00000390624.2	-	0	96																											GGAAAACCCAGCACAGCCCCA	0.473000													4	395					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596049	41596049	+	Silent	SNP	A	A	G	rs149580014		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:41596049A>G	ENST00000330436.3	+	3	441	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	147					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCATCGAGGAACGCATCCAGG	0.697000													3	141					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35879085	35879085	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:35879085G>T	ENST00000339208.6	-	22	4043	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	SYNRG_ENST00000394378.2_Silent_p.V1246V|SYNRG_ENST00000585472.1_Silent_p.V1222V|SYNRG_ENST00000591288.1_Silent_p.V1095V|SYNRG_ENST00000502449.2_Silent_p.V1166V|SYNRG_ENST00000345615.4_Silent_p.V1211V|SYNRG_ENST00000346661.4_Silent_p.V1289V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1301					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTTGGTTCGACACAGTTGA	0.517000													41	595					1.7489e-18	2.03809e-18	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42221515	42221515	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:42221515C>T	ENST00000221992.6	+	5	1214	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	367	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGGTCAGTCCCAGGCTGCAG	0.498000													5	610					0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065065	62065065	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62065065C>T	ENST00000358585.1	-	2	174	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	41						extracellular region	binding			lung(1)|prostate(1)	2						AGGTTTACCGCAGCGTCACTT	0.438000													5	425					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	44					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577035	158577035	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:158577035G>A	ENST00000361284.1	+	1	807	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTCTCTTGAGAGAGATCAGC	0.478000													5	573					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35717254	35717254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:35717254G>A	ENST00000314888.9	-	19	2700	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q783*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	783					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACATGCTGCAGCAGCTCA	0.582000													6	241					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:107592482G>C	ENST00000393561.1	-	21	3522	c.3338C>G	c.(3337-3339)gCt>gGt	p.A1113G	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G			P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGGAATGAGCAGCATTGCA	0.567000													68	52					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692000													11	47					4.36969e-10	4.97472e-10	1	1	0
FAM198B	51313	broad.mit.edu	37	4	159092036	159092036	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:159092036A>T	ENST00000296530.8	-	2	1113	c.492T>A	c.(490-492)ccT>ccA	p.P164P	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.P164P|FAM198B_ENST00000585682.1_Silent_p.P164P|FAM198B_ENST00000393807.5_Silent_p.P164P|RP11-597D13.9_ENST00000503611.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	164						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GAGCGTACCCAGGTGCTACAG	0.637000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	114					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854274	40854274	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:40854274C>G	ENST00000254691.5	+	3	3039	c.2840C>G	c.(2839-2841)tCc>tGc	p.S947C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	947					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCCGATCAGTCCAACCCATCC	0.512000													9	478					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88903976	88903976	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:88903976T>A	ENST00000237623.7	+	6	979	c.831T>A	c.(829-831)agT>agA	p.S277R	SPP1_ENST00000360804.4_Missense_Mutation_p.S264R|SPP1_ENST00000395080.3_Missense_Mutation_p.S291R|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	291				SHEF -> GNSL (in Ref. 2).	biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACCCCAAAAGTAAGGAAGAAG	0.373000													4	109					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954569	30954569	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:30954569G>A	ENST00000376296.3	+	2	858	c.617G>A	c.(616-618)gGg>gAg	p.G206E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	206	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAGCACA	0.622000													4	210					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617000													31	71					0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36935784	36935784	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:36935784T>A	ENST00000269554.3	-	5	988		c.e5-2		PIP4K2B_ENST00000311500.6_Splice_Site	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta						cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CACTATAAACTAGAATGGAAA	0.532000													5	242					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746080	150746080	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:150746080C>A	ENST00000357922.4	+	1	702	c.108C>A	c.(106-108)ggC>ggA	p.G36G	ASIC3_ENST00000349064.5_Silent_p.G36G|ASIC3_ENST00000297512.8_Silent_p.G36G	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	36					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										TCGGGCCAGGCAGCCTGAGCC	0.697000													6	49					0.00621372	0.00643098	1	1	0
AGTR1	185	broad.mit.edu	37	3	148459298	148459298	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:148459298C>T	ENST00000542281.1	+	4	922	c.476C>T	c.(475-477)gCc>gTc	p.A159V	AGTR1_ENST00000474935.1_Missense_Mutation_p.A159V|AGTR1_ENST00000461609.1_Missense_Mutation_p.A159V|AGTR1_ENST00000475347.1_Missense_Mutation_p.A159V|AGTR1_ENST00000418473.2_Missense_Mutation_p.A159V|AGTR1_ENST00000349243.3_Missense_Mutation_p.A159V|AGTR1_ENST00000402260.1_Missense_Mutation_p.A159V|AGTR1_ENST00000497524.1_Missense_Mutation_p.A159V|AGTR1_ENST00000404754.2_Missense_Mutation_p.A159V	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	159					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCAGGCTTGGCCAGTTTGCCA	0.458000													4	266					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750453	167750453	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:167750453T>C	ENST00000470487.1	-	9	1720	c.1031A>G	c.(1030-1032)gAg>gGg	p.E344G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	344	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTTCCTCCTCCAGGGCCTT	0.552000													4	342					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156711	146156711	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:146156711G>A	ENST00000276816.4	-	4	1648	c.1462C>T	c.(1462-1464)Ccg>Tcg	p.P488S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P488S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATCTGTACGGCTTCTCTCCC	0.547000													5	367					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223163965	223163965	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:223163965A>T	ENST00000284476.6	+	4	703		c.e4-1		DISP1_ENST00000495684.1_Splice_Site	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)						diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTGTTTTGTAGTTATGCAGC	0.478000													5	185					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107148850	107148850	+	Missense_Mutation	SNP	C	C	T	rs138552159		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chrX:107148850C>T	ENST00000262843.6	+	5	1615	c.1067C>T	c.(1066-1068)gCt>gTt	p.A356V	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.A356V	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	356	COS.					centrosome|microtubule	ligase activity|zinc ion binding	p.A336D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAAAATATTGCTGAGAGGTCA	0.428000													6	916					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	CRAMP1L_ENST00000262317.4_Silent_p.G460G|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617000													8	145					0.307466	0.309558	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126676271	126676271	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:126676271C>T	ENST00000274473.6	+	5	535	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	MEGF10_ENST00000418761.2_Missense_Mutation_p.R90C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TATGTATAGGCGCAAGTCTCA	0.418000													5	472					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091410	106091410	+	RNA	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106091410C>T	ENST00000390543.2	-	0	483																											TGCACCTCCACGCCATCCACG	0.607000													8	1102					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	106					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:76380267A>T	ENST00000370014.3	+	11	1843		c.e11-1		SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323000													7	118					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846						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)					GCACACCTTTGCTCACCTCTA	0.463000													31	100					1.36161e-19	1.59936e-19	1	1	0
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000402675.1_Silent_p.L27L	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488000													56	105					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553761	19553761	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:19553761C>A	ENST00000409832.3	+	1	397	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115								p.S115R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGGCAAGAGCAAAGTGGGCC	0.597000													21	330					2.24395e-52	2.70004e-52	1	1	0
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388000													7	178					0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418000													6	61					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388000													6	147					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154562732	154562732	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:154562732G>A	ENST00000368474.4	-	7	2623	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	ADAR_ENST00000368471.3_Silent_p.T513T|ADAR_ENST00000292205.5_Silent_p.T851T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	808					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTCACTGGGGTTACCTCTG	0.527000													5	109					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													8	68					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50827498	50827498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:50827498G>T	ENST00000540145.1	+	17	2807	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	CYLD_ENST00000398568.2_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E798*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E795*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.E613*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E795*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E798*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	798					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGCAATGTATGAGTGTAGAGA	0.438000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				16	282					2.35188e-11	2.69828e-11	1	1	0
FAM120B	84498	broad.mit.edu	37	6	170627767	170627767	+	Missense_Mutation	SNP	A	A	G	rs6900202		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:170627767A>G	ENST00000476287.1	+	2	1397	c.1289A>G	c.(1288-1290)gAc>gGc	p.D430G	FAM120B_ENST00000537664.1_Missense_Mutation_p.D453G|FAM120B_ENST00000540480.1_Missense_Mutation_p.D442G|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	430			D -> G (in dbSNP:rs6900202).		cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATGTATACAGACTCTGAACCC	0.512000													5	512					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95751944	95751944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:95751944A>T	ENST00000414645.2	+	6	636	c.537A>T	c.(535-537)ttA>ttT	p.L179F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	179						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTACTGCTTTATTTGTTACAA	0.348000													5	257					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35							catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTTATTTTTTAGTTTCTTACT	0.313000													4	142					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175195	139175195	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:139175195C>A	ENST00000423192.1	+	9	1263	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	ECT2L_ENST00000541398.1_Missense_Mutation_p.P299T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.P368T			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	368					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTTACTGAGGCCTGAAGTGAG	0.393000			"""N, Splice, Mis"""		ETP ALL								4	430					0.014758	0.0151679	1	1	0
FAT3	120114	broad.mit.edu	37	11	92532309	92532309	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:92532309C>T	ENST00000298047.6	+	9	6147	c.6130C>T	c.(6130-6132)Cgt>Tgt	p.R2044C	FAT3_ENST00000525166.1_Missense_Mutation_p.R1894C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2044C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2044	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCTTTGACCGTGAAGAACA	0.468000										TCGA Ovarian(4;0.039)			3	95					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													11	211					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11861228	11861228	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:11861228C>T	ENST00000376592.1	-	2	593	c.465G>A	c.(463-465)gcG>gcA	p.A155A	MTHFR_ENST00000376583.3_Silent_p.A196A|MTHFR_ENST00000376585.1_Silent_p.A196A|MTHFR_ENST00000376590.3_Silent_p.A155A			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	155					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CTCCCCGCAGCGCCATGATGT	0.587000													3	107					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGTGACAGCGCTGGCGGCC	0.637000													45	69					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295576	62295576	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62295576G>A	ENST00000378024.4	-	5	6587	c.6313C>T	c.(6313-6315)Ctt>Ttt	p.L2105F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2105					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)				GGCATCTTAAGCTTGGGGCCC	0.527000													5	671					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													8	680					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657000													5	175					0.00198382	0.00208231	1	1	0
OR5AU1	390445	broad.mit.edu	37	14	21623380	21623380	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:21623380A>G	ENST00000304418.3	-	1	842	c.805T>C	c.(805-807)Tac>Cac	p.Y269H		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATTAAGAAGTAGGAGATCAAG	0.488000													4	75					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572306	57572306	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:57572306G>A	ENST00000243077.3	+	27	4992	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1509					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAGTGGACCGGCCACAATGTC	0.622000													4	264					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													5	261					0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483000													7	260					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:158059959A>T	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGTTTATAGTTGGTTACA	0.259000													3	21					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020156	184020156	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:184020156A>T	ENST00000310118.4	+	6	1262		c.e6-1		EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site|PSMD2_ENST00000435761.1_Splice_Site	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTACTTTTGTAGTTGTGTGAA	0.413000													4	93					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089442	9089442	+	Silent	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9089442A>G	ENST00000397910.4	-	1	2576	c.2373T>C	c.(2371-2373)ccT>ccC	p.P791P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	791	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGAGTCAGAGGGGAAGTTG	0.502000													34	1611					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443000													6	255					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95242265	95242265	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:95242265G>T	ENST00000237853.4	-	5	1052	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	235					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTGTCTTTTTGATTGACACCA	0.468000													5	185					4.096e-09	4.62754e-09	1	1	0
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								6	108					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632000													15	31					8.24728e-16	9.53592e-16	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102045089	102045089	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:102045089T>C	ENST00000549145.1	+	15	1508	c.1408T>C	c.(1408-1410)Tct>Cct	p.S470P	MYBPC1_ENST00000545503.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S445P|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S444P|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S482P|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S457P|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S438P|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S443P|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S457P|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S358P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S431P|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	457	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTGTGAAATCTCTGAAAACAT	0.428000													10	395					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743834	81743834	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:81743834C>A	ENST00000555447.1	-	6	2233	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	STON2_ENST00000267540.2_Silent_p.G607G	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	607	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTCTGCGAGCCCAGACAGGA	0.507000													16	157					5.3912e-06	5.8669e-06	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160091024	160091024	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:160091024C>A	ENST00000361216.3	+	3	249	c.160C>A	c.(160-162)Caa>Aaa	p.Q54K	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	54					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGCAAATACCAAGTGGACCT	0.517000													9	515					3.86212e-05	4.14198e-05	1	1	0
WFDC8	90199	broad.mit.edu	37	20	44181861	44181861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:44181861G>A	ENST00000357199.4	-	5	578	c.500C>T	c.(499-501)cCt>cTt	p.P167L	WFDC8_ENST00000289953.2_Missense_Mutation_p.P167L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	167	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTGACATGAAGGTGGACACTC	0.488000													5	614					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901678	54901678	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:54901678G>A	ENST00000293373.6	+	4	427	c.348G>A	c.(346-348)caG>caA	p.Q116Q	NCKAP1L_ENST00000545638.2_Silent_p.Q66Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	116					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGCCTGCCAGTGCCATTTTG	0.418000													4	641					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:52159702G>T	ENST00000354534.5	+	16	2970	c.2792G>T	c.(2791-2793)cGa>cTa	p.R931L	SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L|SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.R931L(2)|p.R931Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTGTCTTTCGAGTGTTGTGC	0.498000													6	1231					2.56e-06	2.82746e-06	1	1	0
AGO4	192670	broad.mit.edu	37	1	36297167	36297167	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:36297167C>T	ENST00000373210.3	+	8	1233	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TACATACTTGCCACTCGAGGT	0.348000													3	80					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					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)		TAAGCTGGAACGGCTGGATAT	0.483000													205	119					1.07919e-67	1.30918e-67	1	1	0
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G	rs115791874	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597000													3	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065088	9065088	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9065088C>A	ENST00000397910.4	-	3	22561	c.22358G>T	c.(22357-22359)aGc>aTc	p.S7453I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7455	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGAGGTGCTGCTCAAACT	0.478000													5	716					0.184627	0.187156	1	1	0
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:183495733A>T	ENST00000367537.3	+	6	597	c.402A>T	c.(400-402)ttA>ttT	p.L134F	SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348000													4	97					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673739	36673739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:36673739G>A	ENST00000355114.5	-	5	1975	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q377*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q377*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CGTGTGAGCTGTGCGTGCTGT	0.468000													10	353					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443000													41	133					6.07928e-31	7.19786e-31	1	1	0
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:100479340T>G	ENST00000388793.4	+	4	532	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000347433.4_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000457580.2_Silent_p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	104					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607000													8	219					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80764348	80764348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:80764348A>T	ENST00000458043.2	+	55	6594		c.e55-1		OTOGL_ENST00000546620.1_Splice_Site|OTOGL_ENST00000547103.1_Splice_Site	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGATTTTTAGGTAGGGAGT	0.308000													5	117					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408000													4	87					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120801744	120801744	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:120801744G>A	ENST00000369144.3	-	19	3415	c.3288C>T	c.(3286-3288)gaC>gaT	p.D1096D	EIF3A_ENST00000541549.1_Silent_p.D1062D|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1096	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TGGGACCCCGGTCATCATCCA	0.622000													8	397					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397946	125397946	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:125397946C>T	ENST00000536769.1	-	1	1948	c.372G>A	c.(370-372)aaG>aaA	p.K124K	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.K124K|UBC_ENST00000339647.5_Silent_p.K124K			P0CG48	UBC_HUMAN	ubiquitin C	124	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.K124K(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTCCAGCTGCTTTCCGGCAA	0.542000													18	455					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6607201	6607201	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:6607201C>A	ENST00000433363.2	-	4	776	c.543G>T	c.(541-543)ctG>ctT	p.L181L	SLC13A5_ENST00000573648.1_Silent_p.L181L|SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	181						integral to membrane	citrate transmembrane transporter activity	p.L181L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTCACCTGGCAGCTCCTTGG	0.642000													6	50					3.86212e-05	4.14198e-05	1	1	0
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCGATACTTTTCTCCAAATT	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			12	130					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448000													85	141					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000546711.1_Missense_Mutation_p.P911T|FGD6_ENST00000549499.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443000													77	99					1.53276e-45	1.82942e-45	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38655278	38655278	+	Missense_Mutation	SNP	G	G	C	rs45620037		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:38655278G>C	ENST00000443581.1	-	6	852	c.659C>G	c.(658-660)aCc>aGc	p.T220S	SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.T220S|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.T220S|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T220S	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	220			T -> I (in SSS1; dbSNP:rs45620037).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACTCGGAAGGTGCGTAAGGC	0.478000													3	24					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:72420855A>T	ENST00000340595.3	+	18	2758		c.e18-1		SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTTCCTTCTAGTTTATACCC	0.323000													8	427					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74444079	74444079	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:74444079T>A	ENST00000334696.6	-	7	761		c.e7-2		ENTPD5_ENST00000557325.1_Splice_Site	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTCCTTTACCTAGAGAAAAAG	0.388000													4	77					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:178482598G>A	ENST00000355689.4	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507000													5	398					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	48					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													5	24					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:41815528G>T	ENST00000304330.4	-	18	2577	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I	RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	821						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.L821I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577000													5	46					0.00307968	0.00320981	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72828641	72828641	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:72828641G>T	ENST00000268489.5	-	9	8612	c.7940C>A	c.(7939-7941)aCc>aAc	p.T2647N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1733N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2647					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGTGTGATGGTTGTTCTCAA	0.502000													7	819					0.000274275	0.000289948	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:248262935C>T	ENST00000366478.2	+	3	595	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_ENST00000358120.2_Silent_p.S86S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542000													4	627					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165637	172165637	+	Silent	SNP	G	G	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:172165637G>T	ENST00000241256.2	-	1	609	c.567C>A	c.(565-567)ggC>ggA	p.G189G	GHSR_ENST00000427970.1_Silent_p.G189G	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	189					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAGGGTCGGTGCCGTTCTCGT	0.642000													6	91					5.9392e-07	6.60903e-07	1	1	0
KANK4	163782	broad.mit.edu	37	1	62739504	62739504	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:62739504G>A	ENST00000371153.4	-	3	1650	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	424										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACGACTCCCTGGTCAAGAGTC	0.557000													4	462					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106110141G>A	ENST00000390545.2	-	0	476																											CCTCCACGCCGTCCACGTACC	0.617000													504	789					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478000													5	655					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278808	1278808	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:1278808G>A	ENST00000310581.5	-	6	2291	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V	TERT_ENST00000508104.2_Missense_Mutation_p.A745V|TERT_ENST00000296820.5_Missense_Mutation_p.A745V|TERT_ENST00000334602.6_Missense_Mutation_p.A745V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	745	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGACCACGGCATACCGACG	0.602000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	592					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434473	179434473	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:179434473A>T	ENST00000589042.1	-	326	76610	c.76386T>A	c.(76384-76386)aaT>aaA	p.N25462K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23821	Fibronectin type-III 85.						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)			TGTTTGTTTTATTAATTCCTG	0.383000													4	102					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1266					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443000													6	143					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGGCTTTCGATGTCTCTG	0.493000													8	1008					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233348	38233348	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:38233348A>T	ENST00000558158.1	+	7	541		c.e7-1		TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A							integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCTTTCTTTAGGTTAAGTTA	0.488000													6	280					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963015	54963015	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:54963015C>T	ENST00000243052.3	+	4	711	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PDE1B_ENST00000538346.1_Missense_Mutation_p.A51V|PDE1B_ENST00000550620.1_Missense_Mutation_p.A72V|PDE1B_ENST00000394277.3_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	92					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CGGTCAGATGCCGTGCCTTCG	0.632000													4	529					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159618713	159618713	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:159618713A>T	ENST00000511912.1	+	8	1166	c.834A>T	c.(832-834)ttA>ttT	p.L278F	ETFDH_ENST00000307738.5_Missense_Mutation_p.L231F	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	278					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTAGTTATGGGTTATTG	0.348000													4	105					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9210552	9210552	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:9210552G>A	ENST00000327827.7	+	4	1008	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	204										endometrium(4)|large_intestine(2)|lung(2)	8						GCTAGTATAAGCGTGCGTTCG	0.433000													6	665					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15948196	15948196	+	Splice_Site	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:15948196A>T	ENST00000217246.4	+	13	1302		c.e13-1		MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2											breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTGTTGTTAGATTTTGCAA	0.363000													6	155					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30973983	30973983	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:30973983C>T	ENST00000298139.5	+	20	2636	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	796	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACATACCATGCGGGCATGAGT	0.393000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				5	267					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373000													10	357					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95242266	95242266	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:95242266A>T	ENST00000237853.4	-	5	1051	c.702T>A	c.(700-702)aaT>aaA	p.N234K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	234					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGTCTTTTTGATTGACACCAT	0.468000													4	183					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													6	159					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973808	115973808	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:115973808T>C	ENST00000251864.2	+	16	2300	c.2147T>C	c.(2146-2148)gTa>gCa	p.V716A	TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A|TDRD1_ENST00000369280.1_Missense_Mutation_p.V716A	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	716					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)		GACCAAACAGTAGATGTTGTG	0.363000													4	140					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	23					0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386947	8386947	+	RNA	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:8386947T>G	ENST00000427893.2	-	0	819																											GGAGCCCGCTTGTGCTCCTGG	0.632000													6	156					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like.					extracellular region		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642000													4	135					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCGATACTTTTCTCCAAATT	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			4	93					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448000													47	67					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443000													28	40					3.65163e-15	4.42622e-15	1	1	0
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846						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)					GCACACCTTTGCTCACCTCTA	0.463000													45	97					6.4771e-29	8.35755e-29	1	1	0
IGHG2	3501	broad.mit.edu	37	14	106110141	106110141	+	RNA	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:106110141G>A	ENST00000390545.2	-	0	476																											CCTCCACGCCGTCCACGTACC	0.617000													46	45					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000339437.6_Silent_p.L27L	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488000													40	114					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	29					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:107592482G>C	ENST00000393561.1	-	21	3522	c.3338C>G	c.(3337-3339)gCt>gGt	p.A1113G	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1089G			P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGGAATGAGCAGCATTGCA	0.567000													24	26					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					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)		TAAGCTGGAACGGCTGGATAT	0.483000													145	49					9.15414e-77	1.22055e-76	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													5	33					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726646	3726646	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:3726646G>T	ENST00000254963.2	+	7	788	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A49S	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	215							ATP binding	p.A215S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GAAACAGCCAGCCAAGCAGTT	0.642000													5	127					8.12818e-05	9.03132e-05	1	1	0
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522000													4	19					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													3	18					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443000													7	187					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													5	23					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92430268	92430268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:92430268G>T	ENST00000370389.2	+	3	982	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.E93*|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAGGCTTCAGAATGTATAGA	0.279000													3	37					1	1	1	1	0
FAM35A	54537	broad.mit.edu	37	10	88946959	88946959	+	Splice_Site	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:88946959T>G	ENST00000298786.4	+	9	2629		c.e9+2		FAM35A_ENST00000298784.1_Splice_Site			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A											endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GAGTGATAGGTAATATATCAG	0.368000													4	52					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692000													17	76					2.48551e-13	2.92412e-13	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000458333.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000421062.2_Splice_Site_p.A455_splice|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGTGACAGCGCTGGCGGCC	0.637000													51	69					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632000													42	40					7.63091e-17	9.53864e-17	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443000													27	85					0.00127121	0.00137428	1	1	0
PFKP	5214	broad.mit.edu	37	10	3172134	3172134	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:3172134G>A	ENST00000381075.2	+	19	2007	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	PFKP_ENST00000381125.4_Missense_Mutation_p.A603T|PFKP_ENST00000381072.1_Missense_Mutation_p.A21T	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	603					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGCTGATGCCGCATACATTTT	0.647000													4	95					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657000													7	124					0.00198382	0.00208823	1	1	0
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617000													29	46					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													4	70					0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)ggafs	p.G417fs	PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron			Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.520													8	236	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554													7	310	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													11	470	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													10	120	---	---	---	---					
SFPQ	6421	broad.mit.edu	37	1	35653663	35653664	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:35653663_35653664insCT	ENST00000357214.5	-	7	1823_1824	c.1725_1726insAG	c.(1723-1728)gaaagafs	p.R576fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	576					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATCATCTCTTCCTCTCTTCTAC	0.441			T	TFE3	papillary renal cell								7	439	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													7	239	---	---	---	---					
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)cccfs	p.P321fs	RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644													7	358	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													20	389	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													21	316	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					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)		CCACACCATGGCCCCCCCAAAA	0.505													20	467	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145561840	145561841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:145561840_145561841insG	ENST00000355594.4	+	10	1615_1616	c.1528_1529insG	c.(1528-1530)gggfs	p.G510fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGCTGCCCGGGGGGCTTTG	0.629													7	275	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													8	105	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)actfs	p.T639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673													7	550	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													7	318	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													9	402	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													9	329	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	186	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													16	293	---	---	---	---					
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)			7	83	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													7	231	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													7	184	---	---	---	---					
AC010880.1	0	broad.mit.edu	37	2	16576444	16576445	+	RNA	DEL	AC	AC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:16576444_16576445delAC	ENST00000427950.1	+	0	157																											cacaccatagacacacacacac	0.500													3	5	---	---	---	---					
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-63)gggfs	p.G21fs	KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535													8	526	---	---	---	---					
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-585)gccfs	p.A195fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589													14	384	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					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)	AGTATTCAGTAGGGGGGACGAA	0.515													8	536	---	---	---	---					
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1795-1800)tcccccfs	p.SP599fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	599					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401													9	367	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:68691369_68691370insC	ENST00000377957.2	-	4	846_847	c.439_440insG	c.(439-441)aatfs	p.N147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386													7	560	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)ggcfs	p.G575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599													10	1292	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													9	1069	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1002)cggfs	p.R334fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416													9	884	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)cccfs	p.P398fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505													11	603	---	---	---	---					
FABP1	2168	broad.mit.edu	37	2	88425822	88425823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:88425822_88425823insC	ENST00000393750.3	-	2	143_144	c.112_113insG	c.(112-114)gtcfs	p.V38fs	FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	38					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATTTCCGACACCCCCTTGATA	0.530													7	1918	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													4	9	---	---	---	---					
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgfs	p.108fs																								CTTATTACTGTCAACAGAGTG	0.512													8	1194	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)ccggaafs	p.E93fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.530													12	192	---	---	---	---					
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)del	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.360													72	217	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													10	183	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					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						AGGACATAACTGGGGGGGATGT	0.421													14	336	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													13	310	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													15	662	---	---	---	---					
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:197171262_197171263insG	ENST00000260983.2	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cctgaafs	p.E922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.530													8	433	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197990602	197990603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:197990602_197990603insC	ENST00000328737.2	-	5	421_422	c.345_346insG	c.(343-348)gggcacfs	p.H116fs	ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.H133fs|ANKRD44_ENST00000409919.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.H141fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.H116fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.H69fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	141							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGGCTGTGCGCCCCCCTCGGT	0.559													7	462	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													8	164	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													11	157	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													13	368	---	---	---	---					
TADA3	10474	broad.mit.edu	37	3	9831566	9831567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:9831566_9831567insG	ENST00000343450.2	-	3	835_836	c.288_289insC	c.(286-291)ccaacafs	p.T97fs	TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000301964.2_Frame_Shift_Ins_p.T97fs|TADA3_ENST00000440161.1_Frame_Shift_Ins_p.T97fs	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	97					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCATGTTTGGGGGGAGCTC	0.540													9	312	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	98	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(328-333)atggggfs	p.MG110fs	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	110					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599													9	490	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11072861	11072862	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:11072861_11072862insG	ENST00000287766.4	+	13	1744		c.e13-1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCATCTTGCAGGGGGGTATTT	0.500													8	768	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1429-1434)gaccccfs	p.DP477fs	VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs			O15195	VILL_HUMAN	villin-like	477					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594													15	291	---	---	---	---					
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569													8	182	---	---	---	---					
SLC38A3	10991	broad.mit.edu	37	3	50255143	50255144	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:50255143_50255144insC	ENST00000420502.1	+	0	879_880							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTGCCCACTGCCCCCCAACTT	0.584													7	142	---	---	---	---					
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cccfs	p.P348fs	SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.530													7	583	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1291-1296)aaggggfs	p.KG431fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	431	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCTCAACGGGGGGGACCT	0.604													8	915	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													11	775	---	---	---	---					
NIT2	56954	broad.mit.edu	37	3	100073614	100073615	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:100073614_100073615insG	ENST00000394140.3	+	9	774		c.e9-1			NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2						nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CATCTTTTTCAGGGGGGAGGTT	0.450													10	475	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	2063	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													11	345	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(310-315)gaggggfs	p.EG104fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569													8	246	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													16	1097	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1005)gccfs	p.A335fs	MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGCC	0.584													7	145	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													9	464	---	---	---	---					
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)cccfs	p.P305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCCAGTGGCACCCCCCTCATC	0.584													7	836	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													9	681	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													9	672	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	479	---	---	---	---					
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:27019446_27019447insC	ENST00000382009.3	+	12	2155_2156	c.1888_1889insC	c.(1888-1890)cccfs	p.P630fs	STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619													9	596	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													7	311	---	---	---	---					
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)ccaggafs	p.G167fs	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATGTCCTTGGGGGGCGTCA	0.505													8	309	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					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						ACAGCCTGCAGCCCCCCCAAGG	0.574													8	222	---	---	---	---					
AGPAT9	84803	broad.mit.edu	37	4	84519314	84519315	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:84519314_84519315insC	ENST00000395226.2	+	11	1325_1326	c.1107_1108insC	c.(1105-1110)atccccfs	p.IP369fs	AGPAT9_ENST00000264409.4_Frame_Shift_Ins_p.IP369fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	369					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGTGGTACATGCCCCCCATGAC	0.475													7	273	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													7	804	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													28	677	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110920983	110920984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:110920983_110920984insG	ENST00000265171.5	+	21	3599_3600	c.3154_3155insG	c.(3154-3156)gggfs	p.G1052fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.G1010fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.G1011fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1052					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTGAGCCTGTGGGGGGCCCAC	0.584													9	650	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													7	123	---	---	---	---					
HHIP	64399	broad.mit.edu	37	4	145629422	145629423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:145629422_145629423insC	ENST00000296575.3	+	7	1915_1916	c.1260_1261insC	c.(1258-1263)caccccfs	p.HP420fs		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	420						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCACCAACCAGCCCCCCGAAGT	0.545													7	195	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													18	343	---	---	---	---					
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)taafs	p.*1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525													8	563	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				10	595	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													9	247	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32087802	32087803	+	Frame_Shift_Ins	INS	-	-	G	rs157497	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:32087802_32087803insG	ENST00000438447.1	+	20	4636_4637	c.4248_4249insG	c.(4246-4251)ccggggfs	p.PG1416fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.PG1416fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1416					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTGCTGCCCAGGGGGGAGTAG	0.594													7	358	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													18	208	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													10	215	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													10	363	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													14	172	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggtcafs	p.S312fs	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCCCTGACGCCCCCCGTTTC	0.530													7	437	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													8	552	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													10	314	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)ggccacfs	p.H834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584													9	255	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													11	213	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(991-996)acccccfs	p.TP331fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649													7	148	---	---	---	---					
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1249-1254)taatatfs	p.Y418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		418	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455													39	74	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													16	1002	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													7	445	---	---	---	---					
HRH2	3274	broad.mit.edu	37	5	175111290	175111291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:175111290_175111291insC	ENST00000231683.2	+	1	2827_2828	c.1054_1055insC	c.(1054-1056)cccfs	p.P352fs	HRH2_ENST00000377291.2_Frame_Shift_Ins_p.P352fs	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	352					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGAAGTCACGGCCCCCCAGGGA	0.589													8	654	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													12	524	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													16	369	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													34	1647	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													16	425	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)tgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										CTATGAAGCATTTTTTTGACC	0.408													8	1394	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													13	364	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|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						GTCCCTTACCTGGGGGGGATCA	0.535													12	528	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													27	647	---	---	---	---					
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)ccatgtfs	p.C345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564													15	447	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													19	571	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32188294	32188295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32188294_32188295insC	ENST00000375023.3	-	6	1184_1185	c.1046_1047insG	c.(1045-1047)gacfs	p.D349fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACAGCTTGTGCCGCCCCAGCC	0.614													14	586	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													8	311	---	---	---	---					
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)cccfs	p.P489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.530													7	731	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(820-825)ctccccfs	p.LP274fs	SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	274	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGGAGCTGCCCCCCAAGAA	0.599													7	378	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													10	595	---	---	---	---					
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:39874149_39874150insC	ENST00000308559.7	-	10	1979_1980	c.1846_1847insG	c.(1846-1848)cttfs	p.L616fs	MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579													7	588	---	---	---	---					
UNC5CL	222643	broad.mit.edu	37	6	41002638	41002639	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:41002638_41002639insG	ENST00000244565.3	-	2	263_264	c.175_176insC	c.(175-177)actfs	p.T59fs	UNC5CL_ENST00000373164.1_Frame_Shift_Ins_p.T59fs	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	59					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATTTTCTAGTTGGGGGGTAGGC	0.584													12	794	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45514855	45514856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:45514855_45514856insG	ENST00000371438.1	+	8	1737_1738	c.1379_1380insG	c.(1378-1380)cggfs	p.R460fs	RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	460	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G462fs*22(1)|p.G530fs*22(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCATGGTGCCGGGGGGAGACC	0.545													7	280	---	---	---	---					
TFAP2B	7021	broad.mit.edu	37	6	50805703	50805704	+	Frame_Shift_Ins	INS	-	-	G	rs34365845		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:50805703_50805704insG	ENST00000263046.4	+	6	1030_1031	c.864_865insG	c.(862-867)aaggggfs	p.KG288fs	TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	279					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATCGAAAAATGGGGGGAGATC	0.436													7	366	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													11	333	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					18	442	---	---	---	---					
MARCKS	4082	broad.mit.edu	37	6	114181729	114181730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:114181729_114181730insC	ENST00000368635.4	+	2	1354_1355	c.973_974insC	c.(973-975)cccfs	p.P325fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	325					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644													8	88	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													16	431	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													15	275	---	---	---	---					
AKAP12	9590	broad.mit.edu	37	6	151670999	151671000	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:151670999_151671000insC	ENST00000402676.2	+	4	1713_1714	c.1473_1474insC	c.(1471-1476)aaccccfs	p.NP491fs	AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.NP393fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.NP386fs|AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.NP491fs	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	491	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCTGTCCAAACCCCCCGAAGG	0.525													8	492	---	---	---	---					
RMND1	55005	broad.mit.edu	37	6	151744740	151744741	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:151744740_151744741insC	ENST00000367303.4	-	7	978_979	c.856_857insG	c.(856-858)aatfs	p.N286fs	RMND1_ENST00000336451.3_Frame_Shift_Ins_p.N75fs	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	286										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TAACTTGATTTCCCCCCTGTGA	0.361													7	201	---	---	---	---					
LPA	4018	broad.mit.edu	37	6	160963769	160963770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr6:160963769_160963770insC	ENST00000447678.1	-	35	5589_5590	c.5469_5470insG	c.(5467-5472)gggtgtfs	p.C1824fs	LPA_ENST00000316300.5_Frame_Shift_Ins_p.C1824fs|LPA_ENST00000484276.1_5'UTR	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4332	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.C1824G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGCCACACACCCCCCTACAA	0.525													9	400	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													17	283	---	---	---	---					
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)ggaaatfs	p.N161fs	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	161					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGAG	0.525													11	280	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTGTGCCTCCCGGGGGGGAGGT	0.569													8	193	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													7	206	---	---	---	---					
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)gagfs	p.E105fs	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000545231.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559													7	369	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148083	27148084	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:27148083_27148084insC	ENST00000396352.4	-	3	981_982	c.782_783insG	c.(781-783)gcafs	p.A261fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.A261fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	261					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						TTGGAGACTGGCCCCCCGATGA	0.594													8	429	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													16	404	---	---	---	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gtc>g	p.DV19del	STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													7	821	---	---	---	---					
FGL2	10875	broad.mit.edu	37	7	76826169	76826170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:76826169_76826170insC	ENST00000248598.5	-	2	778_779	c.746_747insG	c.(745-747)gggfs	p.G249fs	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	249	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTGTCCAGCCTCCCCCCATGGT	0.480													9	452	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													11	515	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)ttcaggfs	p.R204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTGG	0.446													8	727	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92761060	92761061	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:92761060_92761061insT	ENST00000318238.4	-	5	5440_5441	c.4224_4225insA	c.(4222-4227)aaaactfs	p.T1409fs	SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.T1409fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.T1409fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1409										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCGGAGTTGTTTTTTTAGCG	0.406													9	1268	---	---	---	---					
PON3	5446	broad.mit.edu	37	7	94993290	94993291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:94993290_94993291insA	ENST00000265627.5	-	6	589_590	c.579_580insT	c.(577-582)ttagatfs	p.LD193fs	PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGATCATCTCAAAAAATGACA	0.441													7	881	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97822843	97822844	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:97822843_97822844insC	ENST00000297293.5	+	11	3359_3360	c.3066_3067insC	c.(3064-3069)gtccccfs	p.VP1022fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1022					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAAACTAGTGCCCCCCGATAA	0.594													7	192	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98550874	98550875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:98550874_98550875insC	ENST00000359863.4	+	39	5736_5737	c.5527_5528insC	c.(5527-5529)cccfs	p.P1843fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1843					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A1843T(1)|p.A1825T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGAGCACGCCCCCCACCAC	0.644													7	444	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													34	1153	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-126)tccfs	p.S42fs	FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569													10	659	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													17	305	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100452359	100452360	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100452359_100452360insG	ENST00000354161.3	+	3	424_425	c.299_300insG	c.(298-300)cggfs	p.R100fs	SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R100fs|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R100fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	100						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGAGCCGTGCAGGGGGGCGGAG	0.614													7	411	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													15	265	---	---	---	---					
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100817873_100817874insC	ENST00000300303.2	-	2	453_454	c.215_216insG	c.(214-216)gatfs	p.D72fs	NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	72	N-acetyltransferase.						N-acetyltransferase activity										CGCCGTAGATGCCCCCCGAGAT	0.678													12	338	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)ggagccfs	p.A293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673													11	142	---	---	---	---					
PUS7	54517	broad.mit.edu	37	7	105122809	105122810	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:105122809_105122810insT	ENST00000356362.2	-	8	1212_1213	c.998_999insA	c.(997-999)accfs	p.T333fs	PUS7_ENST00000469408.1_Frame_Shift_Ins_p.T333fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	333					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATTTCAGTGGGTTTTTTTGATA	0.411													7	612	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107572729	107572730	+	Frame_Shift_Ins	INS	-	-	C	rs57244800	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107572729_107572730insC	ENST00000393561.1	-	26	4537_4538	c.4353_4354insG	c.(4351-4356)ggctggfs	p.W1452fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1428	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACAGCCAGGCCCCCCACACT	0.584													9	644	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													22	2857	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													14	482	---	---	---	---					
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs79662895		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:138312995_138312996insC	ENST00000421622.1	-	7	824_825	c.616_617insG	c.(616-618)ctcfs	p.L206fs	SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs			Q8N434	SVOPL_HUMAN	SVOP-like	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													12	345	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													10	600	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													17	879	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													9	541	---	---	---	---					
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)ccatgtfs	p.C525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609													9	351	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18725321	18725322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:18725321_18725322insC	ENST00000440756.2	-	4	1598_1599	c.1496_1497insG	c.(1495-1497)gggfs	p.G499fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	499					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATGT	0.495													9	1253	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													7	358	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													8	589	---	---	---	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													13	313	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131073043	131073044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr8:131073043_131073044insG	ENST00000357668.1	-	27	3000_3001	c.2973_2974insC	c.(2971-2976)ccaaccfs	p.T992fs	ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T992fs			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	992	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGGT	0.574													7	346	---	---	---	---					
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:36353239_36353240insG	ENST00000357058.3	-	7	1355_1356	c.749_750insC	c.(748-750)cacfs	p.H250fs	RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.460													8	317	---	---	---	---					
SPATA31A3	727830	broad.mit.edu	37	9	40702705	40702706	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:40702705_40702706insC	ENST00000356699.5	+	4	391_392	c.362_363insC	c.(361-363)gccfs	p.A121fs	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		TCCGGTCCAGACCCCCCAGGTG	0.624													7	564	---	---	---	---					
SECISBP2	79048	broad.mit.edu	37	9	91956314	91956315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:91956314_91956315insG	ENST00000375807.3	+	10	1426_1427	c.1355_1356insG	c.(1354-1356)tggfs	p.W452fs	SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.W384fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.W379fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	452					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CAGTTGGACTTGGGGGGCATGC	0.421													9	229	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													8	416	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													8	500	---	---	---	---					
PTGS1	5742	broad.mit.edu	37	9	125141076	125141077	+	Frame_Shift_Ins	INS	-	-	C	rs147795437	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:125141076_125141077insC	ENST00000362012.2	+	5	380_381	c.375_376insC	c.(373-378)agccccfs	p.SP125fs	PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.SP16fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.SP125fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.SP100fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	125					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTATCCCCAGTCCCCCCACCTA	0.535													9	234	---	---	---	---					
PTGS1	5742	broad.mit.edu	37	9	125148875	125148876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr9:125148875_125148876insC	ENST00000362012.2	+	9	1165_1166	c.1160_1161insC	c.(1159-1161)cccfs	p.P387fs	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P278fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P387fs|PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P362fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	387					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TACCACTGGCACCCCCTCATGC	0.540													8	705	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)tccfs	p.S65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.520													8	351	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													7	418	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								13	464	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34400165	34400166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:34400165_34400166insG	ENST00000374789.3	-	25	4327_4328	c.4002_4003insC	c.(4000-4005)ccccccfs	p.PP1334fs	PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1334					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)				TGAGAAGGGGAGGGGGGCACAT	0.579													10	1109	---	---	---	---					
C10orf71	118461	broad.mit.edu	37	10	50530937	50530938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:50530937_50530938insC	ENST00000374144.3	+	3	635_636	c.347_348insC	c.(346-348)accfs	p.T116fs	C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCAA	0.545													7	644	---	---	---	---					
CHAT	1103	broad.mit.edu	37	10	50857606	50857607	+	Frame_Shift_Ins	INS	-	-	C	rs3793795		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:50857606_50857607insC	ENST00000395562.2	+	11	1658_1659	c.1189_1190insC	c.(1189-1191)cccfs	p.P397fs	CHAT_ENST00000395559.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000337653.2_Frame_Shift_Ins_p.P479fs	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	479					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CGAGCTCCCCGCCCCCCGGAGG	0.609													7	135	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								8	405	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													47	937	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5638-5643)ccccccfs	p.PP1880fs	KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1880	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCATGACCCCACCCCCCAACCT	0.535													9	439	---	---	---	---					
CYP2C18	1562	broad.mit.edu	37	10	96495136	96495137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:96495136_96495137insC	ENST00000285979.6	+	9	1607_1608	c.1408_1409insC	c.(1408-1410)cccfs	p.P470fs	CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.P411fs|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TATTGACATCACCCCCATTGCC	0.505													7	1286	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													8	667	---	---	---	---					
PYROXD2	84795	broad.mit.edu	37	10	100152810	100152811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:100152810_100152811insC	ENST00000370575.4	-	9	863_864	c.815_816insG	c.(814-816)gctfs	p.A272fs	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	272							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TTCCCTCCAGGCCCCCCATCAC	0.604													8	485	---	---	---	---					
HPSE2	60495	broad.mit.edu	37	10	100995502	100995503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:100995502_100995503insG	ENST00000370552.3	-	1	116_117	c.57_58insC	c.(55-60)cccgtgfs	p.V20fs	HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.V20fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	20					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCTAGGCACGCGGGGGGGCGGG	0.594													17	106	---	---	---	---					
GOT1	2805	broad.mit.edu	37	10	101163284	101163285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:101163284_101163285insG	ENST00000370508.5	-	7	927_928	c.900_901insC	c.(898-903)cccccafs	p.PP300fs	GOT1_ENST00000543866.1_Frame_Shift_Ins_p.PP279fs	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	300					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTCCCTGGGCGGGGGGATTGG	0.584													9	473	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-171)gggfs	p.G57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401													9	454	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													12	1131	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													7	763	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													22	351	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													8	210	---	---	---	---					
SCUBE2	57758	broad.mit.edu	37	11	9048995	9048996	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:9048995_9048996insG	ENST00000457346.2	-	20	2690_2691	c.2616_2617insC	c.(2614-2619)ccagcgfs	p.A873fs	SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	844	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGGT	0.569													7	162	---	---	---	---					
PLEKHA7	144100	broad.mit.edu	37	11	16838764	16838765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:16838764_16838765insC	ENST00000355661.3	-	11	1458_1459	c.1448_1449insG	c.(1447-1449)gtcfs	p.V483fs	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.V483fs|PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.V483fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	483					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.G483V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTGGCGAGGAGCCCCCCGAGGG	0.639													7	309	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				12	165	---	---	---	---					
NAT10	55226	broad.mit.edu	37	11	34154644	34154645	+	Frame_Shift_Ins	INS	-	-	C	rs61735311	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:34154644_34154645insC	ENST00000257829.3	+	16	1895_1896	c.1689_1690insC	c.(1687-1692)gtccccfs	p.VP563fs	NAT10_ENST00000531159.2_Frame_Shift_Ins_p.VP491fs|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	563	N-acetyltransferase.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGCCTCCCGTGCCCCCCACCCA	0.559													7	369	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													11	860	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													9	207	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													15	1081	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													8	481	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1035)accfs	p.T345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515													7	222	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													14	581	---	---	---	---					
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.550													7	620	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60699533	60699534	+	Frame_Shift_Ins	INS	-	-	G	rs61745629	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:60699533_60699534insG	ENST00000005286.4	+	7	1446_1447	c.1293_1294insG	c.(1291-1296)ggggggfs	p.GG431fs	TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	430						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGTGGACGGCGGGGGGGCCTT	0.644													8	184	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					10	120	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					11	318	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61178448	61178449	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61178448_61178449delTC	ENST00000340437.4	-	9	1591_1592	c.1511_1512delGA	c.(1510-1512)afs	p.R504fs	CPSF7_ENST00000394888.4_Frame_Shift_Del_p.R461fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	461					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATCCCGGTGTCTCTCATGCTC	0.520													9	248	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													10	883	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62295353	62295353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62295353delA	ENST00000378024.4	-	5	6810	c.6536delT	c.(6535-6537)tcfs	p.F2179fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2179					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)				GGGGGTCTTGAAGTGCATCTC	0.488													8	944	---	---	---	---					
STX5	6811	broad.mit.edu	37	11	62598584	62598585	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62598584_62598585insG	ENST00000294179.3	-	2	284_285	c.131_132insC	c.(130-132)cgtfs	p.R44fs	STX5_ENST00000541317.1_Intron|STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000394690.1_Splice_Site	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	44					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	p.V45fs*38(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGAGGGTCACTGGGGGGGGCAG	0.629													2	4	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													16	455	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													14	307	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													7	114	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													10	679	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								7	381	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													9	699	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													7	207	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505													7	311	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													10	398	---	---	---	---					
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1881)aggfs	p.R627fs	NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000469103.2_3'UTR			Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624													11	204	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													12	1129	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													7	180	---	---	---	---					
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1225-1230)taccccfs	p.YP409fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	409					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604													7	579	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:2968087_2968088insG	ENST00000342628.2	-	10	2235_2236	c.2122_2123insC	c.(2122-2124)tgafs	p.*708fs	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579													7	136	---	---	---	---					
PRMT8	56341	broad.mit.edu	37	12	3649792	3649793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:3649792_3649793insC	ENST00000382622.3	+	2	486_487	c.96_97insC	c.(94-99)caccccfs	p.HP32fs	PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.HP23fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	32					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCCCTCCCAGCCCCCCCAGCC	0.644													8	93	---	---	---	---					
IFFO1	25900	broad.mit.edu	37	12	6657973	6657974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:6657973_6657974insC	ENST00000436152.2	-	7	736_737	c.177_178insG	c.(175-180)ggggaafs	p.E60fs	IFFO1_ENST00000356896.4_Frame_Shift_Ins_p.E367fs|IFFO1_ENST00000396840.2_Frame_Shift_Ins_p.E364fs|IFFO1_ENST00000465801.1_Frame_Shift_Ins_p.E60fs|IFFO1_ENST00000336604.4_Frame_Shift_Ins_p.E367fs			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	364						intermediate filament		p.R364fs*19(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCCGCTTCCGCCCCCCCATGG	0.673													8	72	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													19	577	---	---	---	---					
GNB3	2784	broad.mit.edu	37	12	6952601	6952602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:6952601_6952602insG	ENST00000229264.3	+	7	747_748	c.342_343insG	c.(340-345)tgggggfs	p.WG114fs	GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	114					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.G115W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TTGTGGCATGTGGGGGGCTGGA	0.584													7	410	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1267-1272)caccccfs	p.HP423fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	423					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614													7	402	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													7	350	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													7	500	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)cccfs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	234						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579													7	904	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12278301	12278302	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:12278301_12278302insG	ENST00000261349.4	-	21	4453_4454	c.4377_4378insC	c.(4375-4380)ccatgafs	p.*1460fs	LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.*1415fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1460					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCTCGGTCATAGGGGGGTCCAC	0.446													7	415	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													40	1666	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													39	556	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													16	378	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													19	3335	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													10	358	---	---	---	---					
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cgafs	p.R689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569													8	727	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													20	424	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													11	1113	---	---	---	---					
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)ggtgtcfs	p.V58fs	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599													11	208	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:58174036_58174037insG	ENST00000333012.5	+	4	475		c.e4-1		METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584													9	152	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								15	556	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			12	322	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													9	231	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(382-387)gattttfs	p.DF128fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	128					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396													10	1098	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													8	1148	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cgafs	p.R144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624													8	862	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													15	1193	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113759072	113759073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:113759072_113759073insC	ENST00000552014.1	-	4	752_753	c.237_238insG	c.(235-240)ggacctfs	p.P80fs	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs			Q6J4K2	NCKX6_HUMAN		80					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TAGTCCAGGTACCCCCCATCAC	0.624													10	1373	---	---	---	---					
SIRT4	23409	broad.mit.edu	37	12	120750293	120750294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:120750293_120750294insG	ENST00000202967.4	+	3	591_592	c.532_533insG	c.(532-534)gggfs	p.G178fs	SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	178	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGACTCCCCGGGGGGTGCTG	0.579													8	402	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													18	283	---	---	---	---					
LCP1	3936	broad.mit.edu	37	13	46721051	46721052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:46721051_46721052insC	ENST00000398576.2	-	13	1553_1554	c.1165_1166insG	c.(1165-1167)tctfs	p.S389fs	LCP1_ENST00000323076.2_Frame_Shift_Ins_p.S389fs			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	389	Actin-binding 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.A389fs*16(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACCTTCAAGAGCCCCCCAGTCA	0.441			T	BCL6	NHL								11	480	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000482841.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				9	980	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													7	807	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													11	274	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													7	208	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74206196	74206197	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:74206196_74206197insC	ENST00000286523.5	-	2	1297_1298	c.515_516insG	c.(514-516)gccfs	p.A172fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A172fs	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CCAGCTGTGGGCCCCCCGCTTT	0.614													7	157	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													10	335	---	---	---	---					
IGHG4	3503	broad.mit.edu	37	14	106091519	106091520	+	RNA	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106091519_106091520insG	ENST00000390543.2	-	0	373_374																											CCTTGGGTTTTGGGGGGAACAG	0.619													7	372	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													36	96	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													40	1075	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													11	578	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										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)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	465	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4563)gccfs	p.A1521fs	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545													7	970	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64962624	64962625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:64962624_64962625insC	ENST00000326648.3	+	3	1181_1182	c.1053_1054insC	c.(1051-1056)gcccccfs	p.AP351fs	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	351						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGATTGGGCACCCCCAAGGTA	0.416													7	394	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													23	1485	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	904	---	---	---	---					
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	RNA	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.490													8	575	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													7	395	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													4	3	---	---	---	---					
OR4F15	390649	broad.mit.edu	37	15	102358558	102358559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr15:102358558_102358559insC	ENST00000332238.4	+	1	193_194	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCATCTGCACTCCCCCATGTAT	0.401													7	1872	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2807545	2807546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:2807545_2807546insG	ENST00000301740.8	+	3	864_865	c.315_316insG	c.(313-318)ccggggfs	p.PG105fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	105						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGTGAACCCTGGGGGCAAGGA	0.559													8	643	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													9	1114	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													7	938	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:16142119_16142120insC	ENST00000399408.2	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)cccfs	p.P447fs	ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	447	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATCTGGTCAGCCCCCCTGCAA	0.545													7	439	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													16	388	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)ccaaggfs	p.R3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.510													8	362	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													7	218	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:23718095_23718096insG	ENST00000256797.4	-	6	778_779	c.610_611insC	c.(610-612)cctfs	p.P204fs	ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604													7	541	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													24	273	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													9	129	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													23	1227	---	---	---	---					
AC012322.1	0	broad.mit.edu	37	16	64294575	64294575	+	RNA	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:64294575delA	ENST00000561657.1	-	0	584																											ACACACCGTTAAAAAAAAAAC	0.493													15	497	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cctggtfs	p.G768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574													8	180	---	---	---	---					
FAM65A	79567	broad.mit.edu	37	16	67572614	67572615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:67572614_67572615insC	ENST00000540839.3	+	4	424_425	c.204_205insC	c.(202-207)aaccccfs	p.NP68fs	FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.NP68fs|FAM65A_ENST00000379312.3_Frame_Shift_Ins_p.NP52fs|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.NP48fs|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.NP62fs			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	52						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCACGGAAGCCCCCCGCGCT	0.663													7	204	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668195	71668196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:71668195_71668196insG	ENST00000268485.3	+	3	739_740	c.695_696insG	c.(694-696)tggfs	p.W232fs	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	232	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCACCAGCTTGGGGGGCATTT	0.559													8	299	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													7	344	---	---	---	---					
MLKL	197259	broad.mit.edu	37	16	74725194	74725195	+	Frame_Shift_Ins	INS	-	-	T	rs56247416	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr16:74725194_74725195insT	ENST00000308807.7	-	4	1165_1166	c.702_703insA	c.(700-705)aatccafs	p.NP234fs	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	234	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCAGCCTGGAGTTTTTTGAATA	0.436													9	778	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													8	732	---	---	---	---					
OR1A2	26189	broad.mit.edu	37	17	3100900	3100901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:3100900_3100901insT	ENST00000381951.1	+	1	88_89	c.88_89insT	c.(88-90)tttfs	p.F30fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTTCTTTGTGATTTTTTTGTGC	0.401													7	650	---	---	---	---					
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:3844781_3844782insG	ENST00000309890.7	-	13	1862_1863	c.1712_1713insC	c.(1711-1713)cagfs	p.Q571fs	ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649													9	467	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:4884523_4884524insC	ENST00000361571.5	-	7	1104_1105	c.693_694insG	c.(691-696)ggttggfs	p.W232fs	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.550											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	982	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													12	1418	---	---	---	---					
POLR2A	5430	broad.mit.edu	37	17	7402718	7402719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:7402718_7402719insC	ENST00000322644.6	+	10	1978_1979	c.1579_1580insC	c.(1579-1581)cccfs	p.P527fs	POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.P527fs	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	527					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATGATTGTCACCCCCCAGAGC	0.564													8	212	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													48	683	---	---	---	---					
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:19459097_19459098insC	ENST00000571335.1	+	7	563_564	c.143_144insC	c.(142-144)gccfs	p.A48fs	SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000270570.4_Intron			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	0						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AATGTGTGTGTCCCCCCCACAG	0.599													8	153	---	---	---	---					
SLC13A2	9058	broad.mit.edu	37	17	26817513	26817514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:26817513_26817514insG	ENST00000444914.3	+	3	840_841	c.420_421insG	c.(418-423)ttggggfs	p.LG140fs	SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG48fs	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	91						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCTGTTCTTCGGGGGGCTGCT	0.639													7	324	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													26	862	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:31439004_31439005insC	ENST00000225823.2	-	2	1661_1662	c.789_790insG	c.(787-792)ggcaggfs	p.R264fs	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.550													10	348	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)gggfs	p.G528fs	TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								7	118	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													9	224	---	---	---	---					
RAB5C	5878	broad.mit.edu	37	17	40280704	40280705	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:40280704_40280705insC	ENST00000393860.3	-	4	596_597	c.280_281insG	c.(280-282)ccafs	p.P94fs	RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.P127fs|CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.P94fs|RAB5C_ENST00000346213.4_Frame_Shift_Ins_p.P94fs	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	94					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGCAGCCTGGGCCCCCCGATAG	0.530													8	478	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													16	581	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													8	380	---	---	---	---					
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)ccaccafs	p.P729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					lipid transport		lipid binding	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													12	590	---	---	---	---					
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-705)accfs	p.T235fs	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	235					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCACTGAAAGCCCCCCAACCC	0.609													8	392	---	---	---	---					
SP2	6668	broad.mit.edu	37	17	45994349	45994350	+	Frame_Shift_Ins	INS	-	-	C	rs142857959		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:45994349_45994350insC	ENST00000376741.4	+	3	1049_1050	c.912_913insC	c.(910-915)gtccccfs	p.VP304fs	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	304					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCCAGGTGGTGCCCCCCAAGGC	0.649													7	260	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													18	1235	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													7	269	---	---	---	---					
RGS9	8787	broad.mit.edu	37	17	63221351	63221352	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:63221351_63221352insC	ENST00000449996.3	+	18	1702_1703	c.1630_1631insC	c.(1630-1632)cccfs	p.P544fs	RGS9_ENST00000262406.9_Frame_Shift_Ins_p.P547fs|RGS9_ENST00000443584.3_Frame_Shift_Ins_p.P544fs	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	547				GSMAPR -> WSGANP (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGGGTCCATGGCCCCCCGTGGG	0.693													8	345	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													14	958	---	---	---	---					
C17orf70	80233	broad.mit.edu	37	17	79517945	79517946	+	Frame_Shift_Ins	INS	-	-	G	rs149308791		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr17:79517945_79517946insG	ENST00000537152.1	-	3	646_647	c.121_122insC	c.(121-123)cttfs	p.L41fs	C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.L192fs	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	192					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGAAGGAAGTGGGGGGCTGCA	0.693													2	4	---	---	---	---					
CEP192	55125	broad.mit.edu	37	18	13113612	13113613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr18:13113612_13113613insG	ENST00000506447.1	+	41	7155_7156	c.7075_7076insG	c.(7075-7077)gggfs	p.G2359fs	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1954										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCCAGAGGTAGGGGGGATTAT	0.426													8	344	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22804477	22804478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr18:22804477_22804478insC	ENST00000361524.3	-	4	3552_3553	c.3404_3405insG	c.(3403-3405)gctfs	p.A1135fs	ZNF521_ENST00000538137.2_Frame_Shift_Ins_p.A1135fs|ZNF521_ENST00000584787.1_Frame_Shift_Ins_p.A915fs	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1135					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTCTTCAGTCCCCCCACCTT	0.554			T	PAX5	ALL								7	220	---	---	---	---					
FBN3	84467	broad.mit.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)ggtggcfs	p.G602fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678													9	101	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													8	472	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													8	846	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													10	176	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	1315	---	---	---	---					
ELAVL3	1995	broad.mit.edu	37	19	11565611	11565612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:11565611_11565612insC	ENST00000359227.3	-	7	1257_1258	c.833_834insG	c.(832-834)ggcfs	p.G278fs	ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G271fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	278					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						cgcccgccgcgccccccgACAG	0.678													7	220	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					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						CATTCATAGGGTTTTTTTGCAG	0.396													18	758	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:12155708_12155709insT	ENST00000602107.1	-	5	647_648	c.648_649insA	c.(646-651)aacctafs	p.NL216fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	169					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						CATTCATAGGGTTTTTTTGCAG	0.411													11	712	---	---	---	---					
GCDH	2639	broad.mit.edu	37	19	13008600	13008601	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:13008600_13008601insG	ENST00000222214.5	+	11	1377_1378	c.1166_1167insG	c.(1165-1167)cggfs	p.R389fs	GCDH_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.R389fs			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAATG	0.599													8	188	---	---	---	---					
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)caafs	p.Q33fs	EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485													10	291	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569													10	395	---	---	---	---					
ZNF93	81931	broad.mit.edu	37	19	20027414	20027415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:20027414_20027415insA	ENST00000343769.5	+	3	204_205	c.176_177insA	c.(175-177)gaafs	p.E59fs	ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.E59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.E59fs|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTGGAGCAAGGAAAAAAACCTT	0.406													8	331	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													21	432	---	---	---	---					
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:34887281_34887282insG	ENST00000415930.3	+	13	1341_1342	c.1171_1172insG	c.(1171-1173)gggfs	p.G391fs	GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	380					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCCCATTGTGTGGGGGGAGCCA	0.564													7	143	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40320998	40320999	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:40320998_40320999insG	ENST00000601972.1	-	4	618_619	c.388_389insC	c.(388-390)ccafs	p.P130fs	DYRK1B_ENST00000593685.1_Intron|DYRK1B_ENST00000323039.5_Intron|DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000348817.3_Intron			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	578	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATCAGGGTGGTGGGGGGTGTCC	0.584													7	371	---	---	---	---					
PSMC4	5704	broad.mit.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:40480653_40480654insC	ENST00000157812.2	+	6	789_790	c.591_592insC	c.(589-594)gaccccfs	p.DP197fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	197					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614													7	172	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)cccfs	p.P181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644													10	1354	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													27	368	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:42866542_42866543insC	ENST00000334370.4	+	33	6285_6286	c.5650_5651insC	c.(5650-5652)cccfs	p.P1884fs	MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614													13	395	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													30	1394	---	---	---	---					
KCNN4	3783	broad.mit.edu	37	19	44284860	44284861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:44284860_44284861insC	ENST00000262888.3	-	1	548_549	c.153_154insG	c.(151-156)gggctcfs	p.L52fs		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	52					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CTCACCGAGCACCCCCCGAACC	0.653													12	469	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649													9	474	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													22	316	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)cccfs	p.P224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	4	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703													2	4	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													20	583	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554													11	721	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													8	618	---	---	---	---					
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)ttcfs	p.F459fs	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.450													14	992	---	---	---	---					
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)gggfs	p.G41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525													15	397	---	---	---	---					
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)ggcctgfs	p.L424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGCCTGCAGGGCCCCCCCATTC	0.624													10	295	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													13	264	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													9	812	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													9	202	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10620244	10620245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:10620244_10620245insG	ENST00000254958.5	-	26	4073_4074	c.3558_3559insC	c.(3556-3561)ccacggfs	p.R1187fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R1028fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1187					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCCGTTGGGGGGCTTCT	0.515									Alagille Syndrome				7	639	---	---	---	---					
SLC24A3	57419	broad.mit.edu	37	20	19664932	19664933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:19664932_19664933insC	ENST00000328041.6	+	11	1211_1212	c.1014_1015insC	c.(1012-1017)ttccccfs	p.FP338fs		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	338						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAGCCACTTTCCCCCCAAGAC	0.559													8	295	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													9	218	---	---	---	---					
PLAGL2	5326	broad.mit.edu	37	20	30789951	30789952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:30789951_30789952insG	ENST00000246229.4	-	2	294_295	c.30_31insC	c.(28-33)ccggatfs	p.D11fs		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACGC	0.559													7	353	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													14	355	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)ccafs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.500													7	947	---	---	---	---					
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1665)cccfs	p.P555fs	CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR					cyclic nucleotide binding domain containing 2																		CAGAAATACCTCCCCCCATTGA	0.455													16	1801	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													10	1105	---	---	---	---					
PLCG1	5335	broad.mit.edu	37	20	39798133	39798134	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:39798133_39798134insG	ENST00000373272.2	+	23	3022_3023	c.2617_2618insG	c.(2617-2619)gggfs	p.G873fs	PLCG1_ENST00000373271.1_Frame_Shift_Ins_p.G873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.G873fs	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	873					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.R873Q(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTGCTGCGGGGGGTCTTG	0.540													7	450	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.540													13	362	---	---	---	---					
MYBL2	4605	broad.mit.edu	37	20	42344628	42344629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:42344628_42344629insG	ENST00000217026.4	+	14	2131_2132	c.2004_2005insG	c.(2002-2007)tgggggfs	p.WG668fs	MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.WG644fs	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G669W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGTGGCCTGCGGGGGGACCAG	0.624													8	715	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													30	593	---	---	---	---					
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-267)tccfs	p.S89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	393	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													14	865	---	---	---	---					
NFATC2	4773	broad.mit.edu	37	20	50140530	50140531	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:50140530_50140531insG	ENST00000371564.3	-	2	468_469	c.249_250insC	c.(247-252)ccgccgfs	p.P84fs	NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.P64fs|NFATC2_ENST00000396009.3_Frame_Shift_Ins_p.P84fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	84					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCGAATCGGCCGGGGGGCTCGC	0.663													8	304	---	---	---	---					
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)catfs	p.H247fs	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564													11	670	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													7	197	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:57478756_57478757insC	ENST00000371100.4	+	5	2823_2824	c.2271_2272insC	c.(2269-2274)gtccccfs	p.VP757fs	GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	114					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	446	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													17	394	---	---	---	---					
ZBTB46	140685	broad.mit.edu	37	20	62378319	62378320	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr20:62378319_62378320insG	ENST00000245663.4	-	5	1883_1884	c.1733_1734insC	c.(1732-1734)cggfs	p.R578fs	ZBTB46_ENST00000395104.1_Frame_Shift_Ins_p.R578fs|ZBTB46_ENST00000302995.2_Frame_Shift_Ins_p.R578fs	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGGCCTCCTGGGGGGCTGCG	0.723													2	4	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													10	396	---	---	---	---					
RSPH1	89765	broad.mit.edu	37	21	43913175	43913176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr21:43913175_43913176insC	ENST00000291536.3	-	2	235_236	c.68_69insG	c.(67-69)gcgfs	p.A23fs	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	23					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTCATTCCGACCCCCCTCATA	0.500													8	614	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													10	295	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													9	276	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	508	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													7	285	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs7410785		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1																						ATACAGGTTTTCCCCCCCCACC	0.406													7	142	---	---	---	---					
GAS2L1	10634	broad.mit.edu	37	22	29708272	29708273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:29708272_29708273insG	ENST00000406549.3	+	6	1301_1302	c.1151_1152insG	c.(1150-1152)aggfs	p.R384fs	GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	393					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGCCCTGGCATGGGGGGGCCAC	0.678													18	318	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													9	273	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525													13	335	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40662479	40662480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:40662479_40662480insG	ENST00000454349.2	+	5	2456_2457	c.2245_2246insG	c.(2245-2247)gggfs	p.G749fs	TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.G749fs|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	749					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AAAGAATGGTTGGGGGGAGGAA	0.510													7	146	---	---	---	---					
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)del	p.D107del	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		TGTTCCAGAGGATGATGATGATG	0.478													7	466	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs72549352		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)agafs	p.R269fs	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGTCTCGGGGGGGCTGG	0.629													8	88	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													28	721	---	---	---	---					
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:11316741_11316742insC	ENST00000380712.3	+	6	328_329	c.260_261insC	c.(259-261)cccfs	p.P87fs	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|ARHGAP6_ENST00000380732.3_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594													7	272	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													10	108	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													13	393	---	---	---	---					
ZC3H12B	340554	broad.mit.edu	37	X	64722003	64722004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:64722003_64722004insC	ENST00000338957.4	+	5	1492_1493	c.1425_1426insC	c.(1423-1428)ccccccfs	p.PP475fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.PP464fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	464							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAATCCCACCCCCCAAAAG	0.594													7	255	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													13	672	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													9	321	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													29	460	---	---	---	---					
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)del	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.360													85	158	---	---	---	---					
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1249-1254)taatatfs	p.Y418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		418	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455													51	92	---	---	---	---					
SFPQ	6421	broad.mit.edu	37	1	35653663	35653664	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:35653663_35653664insCT	ENST00000357214.5	-	7	1823_1824	c.1725_1726insAG	c.(1723-1728)gaaagafs	p.R576fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	576					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATCATCTCTTCCTCTCTTCTAC	0.441			T	TFE3	papillary renal cell								7	439	---	---	---	---					
SYCP1	6847	broad.mit.edu	37	1	115469134	115469134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr1:115469134delA	ENST00000369522.3	+	23	2116	c.1876delA	c.(1876-1878)aafs	p.K628fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	628					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGCCTTGAAAAAAAAAGG	0.264													2	4	---	---	---	---					
FABP1	2168	broad.mit.edu	37	2	88425822	88425823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:88425822_88425823insC	ENST00000393750.3	-	2	143_144	c.112_113insG	c.(112-114)gtcfs	p.V38fs	FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	38					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATTTCCGACACCCCCTTGATA	0.530													7	1918	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													4	9	---	---	---	---					
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)del	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.360													72	217	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(328-333)atggggfs	p.MG110fs	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	110					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599													9	490	---	---	---	---					
SLC38A3	10991	broad.mit.edu	37	3	50255143	50255144	+	RNA	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr3:50255143_50255144insC	ENST00000420502.1	+	0	879_880							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTGCCCACTGCCCCCCAACTT	0.584													7	142	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				10	595	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													9	247	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													11	538	---	---	---	---					
PDLIM4	8572	broad.mit.edu	37	5	131606778	131606779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:131606778_131606779insC	ENST00000253754.3	+	4	562_563	c.498_499insC	c.(496-501)ccccccfs	p.PP166fs	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	166							protein binding|zinc ion binding	p.S169fs*50(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCCACCCCCCAGGTA	0.589													8	681	---	---	---	---					
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1249-1254)taatatfs	p.Y418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		418	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455													39	74	---	---	---	---					
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	635	---	---	---	---					
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)cccfs	p.P489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.530													7	731	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)ttcaggfs	p.R204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTGG	0.446													8	727	---	---	---	---					
PON3	5446	broad.mit.edu	37	7	94993290	94993291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:94993290_94993291insA	ENST00000265627.5	-	6	589_590	c.579_580insT	c.(577-582)ttagatfs	p.LD193fs	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGATCATCTCAAAAAATGACA	0.441													7	881	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													7	273	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													2	4	---	---	---	---					
TMC1	117531	broad.mit.edu	37	9	75407208	75407209	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:75407208_75407209insT	ENST00000297784.5	+	17	2046_2047	c.1506_1507insT	c.(1504-1509)ccttttfs	p.PF502fs	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PF502fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PF502fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	502					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGGACCACCCTTTTTTGTTCA	0.441													10	1426	---	---	---	---					
PTGS1	5742	broad.mit.edu	37	9	125141076	125141077	+	Frame_Shift_Ins	INS	-	-	C	rs147795437	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:125141076_125141077insC	ENST00000362012.2	+	5	380_381	c.375_376insC	c.(373-378)agccccfs	p.SP125fs	PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.SP100fs|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.SP125fs|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.SP16fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	125					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTATCCCCAGTCCCCCCACCTA	0.535													9	234	---	---	---	---					
PTGS1	5742	broad.mit.edu	37	9	125148875	125148876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr9:125148875_125148876insC	ENST00000362012.2	+	9	1165_1166	c.1160_1161insC	c.(1159-1161)cccfs	p.P387fs	PTGS1_ENST00000540753.1_Frame_Shift_Ins_p.P362fs|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000223423.4_Frame_Shift_Ins_p.P387fs|PTGS1_ENST00000373698.5_Frame_Shift_Ins_p.P278fs	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	387					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TACCACTGGCACCCCCTCATGC	0.540													8	705	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)tccfs	p.S65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.520													8	351	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													8	351	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102762592	102762593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:102762592_102762593insC	ENST00000370220.1	+	1	3360_3361	c.297_298insC	c.(295-300)tcccccfs	p.SP99fs	LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.SP99fs			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	99	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.S102fs*41(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGACAGAGTCACCCCCCAGCCC	0.614													7	222	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105176292	105176293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr10:105176292_105176293insA	ENST00000369797.3	+	13	1657_1658	c.1563_1564insA	c.(1561-1566)ctaaaafs	p.LK521fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	521	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATGACCCTGAAAAAAACCCT	0.485											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	564	---	---	---	---					
SCUBE2	57758	broad.mit.edu	37	11	9048995	9048996	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:9048995_9048996insG	ENST00000457346.2	-	20	2690_2691	c.2616_2617insC	c.(2614-2619)ccagcgfs	p.A873fs	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	844	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGGT	0.569													7	162	---	---	---	---					
NAT10	55226	broad.mit.edu	37	11	34154644	34154645	+	Frame_Shift_Ins	INS	-	-	C	rs61735311	byFrequency	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:34154644_34154645insC	ENST00000257829.3	+	16	1895_1896	c.1689_1690insC	c.(1687-1692)gtccccfs	p.VP563fs	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Frame_Shift_Ins_p.VP491fs	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	563	N-acetyltransferase.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGCCTCCCGTGCCCCCCACCCA	0.559													7	369	---	---	---	---					
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.550													7	620	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					10	120	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61178448	61178449	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:61178448_61178449delTC	ENST00000340437.4	-	9	1591_1592	c.1511_1512delGA	c.(1510-1512)afs	p.R504fs	CPSF7_ENST00000394888.4_Frame_Shift_Del_p.R461fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.R452fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.R452fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	461					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATCCCGGTGTCTCTCATGCTC	0.520													9	248	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62295353	62295353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62295353delA	ENST00000378024.4	-	5	6810	c.6536delT	c.(6535-6537)tcfs	p.F2179fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2179					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)				GGGGGTCTTGAAGTGCATCTC	0.488													8	944	---	---	---	---					
STX5	6811	broad.mit.edu	37	11	62598584	62598585	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:62598584_62598585insG	ENST00000294179.3	-	2	284_285	c.131_132insC	c.(130-132)cgtfs	p.R44fs	STX5_ENST00000394690.1_Splice_Site|STX5_ENST00000377897.4_Frame_Shift_Ins_p.R44fs|STX5_ENST00000541317.1_Intron	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	44					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	p.V45fs*38(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGAGGGTCACTGGGGGGGGCAG	0.629													2	4	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													10	679	---	---	---	---					
GNB3	2784	broad.mit.edu	37	12	6952601	6952602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:6952601_6952602insG	ENST00000229264.3	+	7	747_748	c.342_343insG	c.(340-345)tgggggfs	p.WG114fs	GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	114					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.G115W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TTGTGGCATGTGGGGGGCTGGA	0.584													7	410	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)cccfs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	234						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579													7	904	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12278301	12278302	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:12278301_12278302insG	ENST00000261349.4	-	21	4453_4454	c.4377_4378insC	c.(4375-4380)ccatgafs	p.*1460fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.*1415fs|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1460					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCTCGGTCATAGGGGGGTCCAC	0.446													7	415	---	---	---	---					
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)ggtgtcfs	p.V58fs	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599													11	208	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				9	980	---	---	---	---					
RP11-739G5.1	0	broad.mit.edu	37	15	94216823	94216828	+	RNA	DEL	CTCCTT	CTCCTT	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr15:94216823_94216828delCTCCTT	ENST00000554318.2	+	0	324																											cttcctcctcctccttctccttctcc	0.461													4	5	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2807545	2807546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:2807545_2807546insG	ENST00000301740.8	+	3	864_865	c.315_316insG	c.(313-318)ccggggfs	p.PG105fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	105						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGTGAACCCTGGGGGCAAGGA	0.559													8	643	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:23718095_23718096insG	ENST00000256797.4	-	6	778_779	c.610_611insC	c.(610-612)cctfs	p.P204fs	ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604													7	541	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28846490	28846491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:28846490_28846491insC	ENST00000336783.4	+	19	2712_2713	c.2545_2546insC	c.(2545-2547)cccfs	p.P849fs	ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P855fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P849fs|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	849						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGAGCAGCCTACCCCCCAAGCC	0.624													9	689	---	---	---	---					
ITGAM	3684	broad.mit.edu	37	16	31308913	31308914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:31308913_31308914insC	ENST00000544665.3	+	13	1506_1507	c.1435_1436insC	c.(1435-1437)cccfs	p.P479fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	479					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTCATCGGGGCCCCCCATTAC	0.673													7	395	---	---	---	---					
AC012322.1	0	broad.mit.edu	37	16	64294575	64294575	+	RNA	DEL	A	A	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:64294575delA	ENST00000561657.1	-	0	584																											ACACACCGTTAAAAAAAAAAC	0.493													15	497	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	8	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)del	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													9	156	---	---	---	---					
POLR2A	5430	broad.mit.edu	37	17	7402718	7402719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:7402718_7402719insC	ENST00000322644.6	+	10	1978_1979	c.1579_1580insC	c.(1579-1581)cccfs	p.P527fs	POLR2A_ENST00000572844.1_Frame_Shift_Ins_p.P527fs	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	527					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATGATTGTCACCCCCCAGAGC	0.564													8	212	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													14	138	---	---	---	---					
C17orf70	80233	broad.mit.edu	37	17	79517945	79517946	+	Frame_Shift_Ins	INS	-	-	G	rs149308791		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:79517945_79517946insG	ENST00000537152.1	-	3	646_647	c.121_122insC	c.(121-123)cttfs	p.L41fs	C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.L192fs	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	192					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGAAGGAAGTGGGGGGCTGCA	0.693													2	4	---	---	---	---					
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)caafs	p.Q33fs	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485													10	291	---	---	---	---					
ZNF93	81931	broad.mit.edu	37	19	20027414	20027415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:20027414_20027415insA	ENST00000343769.5	+	3	204_205	c.176_177insA	c.(175-177)gaafs	p.E59fs	ZNF93_ENST00000592160.1_Frame_Shift_Ins_p.E59fs|ZNF93_ENST00000591366.1_Frame_Shift_Ins_p.E59fs|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTGGAGCAAGGAAAAAAACCTT	0.406													8	331	---	---	---	---					
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:34887281_34887282insG	ENST00000415930.3	+	13	1341_1342	c.1171_1172insG	c.(1171-1173)gggfs	p.G391fs	GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs|GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	380					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCCCATTGTGTGGGGGGAGCCA	0.564													7	143	---	---	---	---					
ZBTB32	27033	broad.mit.edu	37	19	36205537	36205538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:36205537_36205538insC	ENST00000392197.2	+	3	327_328	c.9_10insC	c.(7-12)ctccccfs	p.LP3fs	ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.LP3fs			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	3					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAATGTCCCTGCCCCCCATAAG	0.569													10	565	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649													9	474	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)cccfs	p.P224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	4	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703													2	4	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													9	202	---	---	---	---					
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)del	p.D107del	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		TGTTCCAGAGGATGATGATGATG	0.478													7	466	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AK-3427-01A-01W-0886-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a0b4ff-e602-4f6e-b535-69a129f78eea	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)ttc>t	p.SF246del	TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													7	650	---	---	---	---					
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)del	p.V65del	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.360													85	158	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	RNA	DEL	T	T	-	rs71401155		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													3	2	---	---	---	---					
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1249-1254)taatatfs	p.Y418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		418	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455													51	92	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													22	111	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs147429736	by1000genomes	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330																											gtgtgtgtgtctgagtgtgtctgt	0.392													14	67	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr7:82595145_82595146insG	ENST00000423517.2	-	4	4295_4296	c.3958_3959insC	c.(3958-3960)gccfs	p.A1320fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.A1320fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1259					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						TGGCTGTGGCTGTTCTTTTATT	0.406													7	227	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													8	9	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													5	10	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													17	291	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													3	5	---	---	---	---					
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtg>g	p.VL622del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	622					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596													7	142	---	---	---	---					
