Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MYOM2_chr8_2040046_2150456	2120675	T T	TATATATT others(44): Show TATATATTATATATATATATAATATATATATAATATATATATATAATATA TA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0184 a0011c0184	a0011c0184t0001 a0011c0184t0001	a0011c0184t0001g0055 a0011c0184t0001g0055	1	403	0.0025	51	c.345 others(70): Show c.3454-2577_3454-2576insATATATTATATATATATATAATATAT ATATAATATATATATATAATATATA		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36						chr8	TogoVar
MYRFL_chr12_69820227_69964097	69877024	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02622.hp1 HG02896.hp1 HG00733.hp2 HG02622.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0306 a0001c0003t0001g0263 a0002c0002t0001g0288 a0001c0001t0001g0306 a0001c0003t0001g0263 a0002c0002t0001g0288	3	322	0.0093	51	c.138 others(68): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT		MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1L_chr2_1784113_2336275	2034659	A A	ACAATCTC others(44): Show ACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCC CC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	104	0.0096	51	c.-15 others(72): Show c.-158+19318_-158+19319insGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCGCATTGGAGGGTGGAGATTG		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATAACCTGTGAGATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0085 a0001c0018t0002g0085	1	104	0.0096	51	c.-42 others(72): Show c.-421+21471_-421+21472insATATATATATATATATCTCACAGG TTATATATATATATATATATATATATA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATAACCTGTGATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0099 a0001c0005t0002g0099	1	104	0.0096	51	c.-42 others(72): Show c.-421+21471_-421+21472insATATATATATATATCACAGGTTAT ATATATATATATATATATATATATATA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYT1_chr20_64159452_64247253	64201900	T T	TGTGTCGG others(44): Show TGTGTCGGGAACCCCCGTGTGTCGGGAACCCCCGCGTGTCGGGAACCTCT GC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0020 a0002c0008t0020	a0002c0008t0020g0111 a0002c0008t0020g0111	1	223	0.0045	51	c.86+ others(66): Show c.86+1994_86+1995insTGTGTCGGGAACCCCCGCGTGTCGGGAACC TCTGCGTGTCGGGAACCCCCG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MZF1_chr19_58556932_58578335	58576414	T T	TCTCTTCC others(44): Show TCTCTTCCTTCCTCCCTCTCTTCCTTCCTCCCTCCCTTCCTCCCTCTCTT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02622.hp1 HG03209.hp1 HG01069.hp1 HG02622.hp1 HG03209.hp1	a0003 a0023 a0003 a0023	a0003c0017 a0023c0019 a0003c0017 a0023c0019	a0003c0017t0001 a0023c0019t0001 a0003c0017t0001 a0023c0019t0001	a0003c0017t0001g0149 a0003c0017t0001g0150 a0023c0019t0001g0127 a0003c0017t0001g0149 a0003c0017t0001g0150 a0023c0019t0001g0127	3	414	0.0073	51	c.-34 others(62): Show c.-3401_-3400insGGAAGAGAGGGAGGAAGGGAGGGAGGAAGGAAGA GAGGGAGGAAGGAAGAG		MZF1	ENSG00000099326.9	transcript	ENST00000215057.7	protein_coding					3080		chr19	TogoVar
NACC2_chr9_136001537_136100289	136023044	G G	GGAAGGAG others(44): Show GGAAGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGGAGGGAAGAGGGAGG GA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0343 a0001c0009t0037g0343	1	348	0.0029	51	c.887 others(68): Show c.887-6616_887-6615insTCCCTCCCTCTTCCCTCCTTCCCTCCCT CCTCCCTCCCTCTTCCCTCCTTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136032018	C C	CCCTGGGC others(44): Show CCCTGGGCGCCCAGGGTAAATGAATGGGGGGCAAGGGGCGCCCTCGGCAG CA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp1 others(7): Show HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0009 a0001c0025 others(1): Show a0001c0007 a0001c0009 a0001c0025 a0002c0006	a0001c0007t0011 a0001c0007t0045 a0001c0007t0097 others(5): Show a0001c0007t0011 a0001c0007t0045 a0001c0007t0097 a0001c0007t0098 a0001c0007t0100 a0001c0009t0020 a0001c0025t0020 a0002c0006t0006	a0001c0007t0011g0098 a0001c0007t0011g0099 a0001c0007t0045g0034 others(7): Show a0001c0007t0011g0098 a0001c0007t0011g0099 a0001c0007t0045g0034 a0001c0007t0045g0058 a0001c0007t0097g0095 a0001c0007t0098g0038 a0001c0007t0100g0089 a0001c0009t0020g0344 a0001c0025t0020g0093 a0002c0006t0006g0092	10	348	0.0287	51	c.887 others(70): Show c.887-15590_887-15589insTGCTGCCGAGGGCGCCCCTTGCCCCC CATTCATTTACCCTGGGCGCCCAGG		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136032018	C C	CCCTGGGC others(44): Show CCCTGGGCGCCCAGGGTAAATGAATGGGGGGCAAGGGGCGTCCTCTGCAG CA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	348	0.0029	51	c.887 others(70): Show c.887-15590_887-15589insTGCTGCAGAGGACGCCCCTTGCCCCC CATTCATTTACCCTGGGCGCCCAGG		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NALF1_chr13_107158510_107872496	107783266	T T	TCGCCCCG others(44): Show TCGCCCCGTCAGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCGGGCCA GC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0074 a0001c0002t0049g0074	1	128	0.0078	51	c.915 others(70): Show c.915+82415_915+82416insGCTGGCCCGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCTGACGGGGCG		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NANOG_chr12_7784402_7804146	7797178	C C	CTGGTCGA others(44): Show CTGGTCGAGCAAGGATTACAGGCACCCACATTACACCGGCTAATTTTGGT AA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0037 a0001c0001t0055g0037	1	434	0.0023	51	c.20 others(62): Show c.2084_*2085insGGTCGAGCAAGGATTACAGGCACCCACATTACAC CGGCTAATTTTGGTAAT		NANOG	ENSG00000111704.11	transcript	ENST00000229307.9	protein_coding	4/4				2085	INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV1_chr1_201534127_201831969	201734482	G G	GGAAGAGG others(44): Show GGAAGAGGAGGAGGAGGAGGAAGAAGGAGAAGAAGAAGAAGAAGAAGAAG AA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0070 a0001c0001t0080g0070	1	210	0.0048	51	c.208 others(72): Show c.2087+15729_2087+15730insAGAGGAGGAGGAGGAGGAAGAAGG AGAAGAAGAAGAAGAAGAAGAAGAAGA		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBDY_chrX_56724243_56824179	56771481	T T	TCCGCCTC others(44): Show TCCGCCTCCTCCTCCTCCGCCTCCTCCTCCTCCTCCGCCTCCTCCTCCTC CG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0044 a0001c0001t0010g0044	1	160	0.0063	51	c.16 others(72): Show c.166+39284_*166+39285insGCCTCCTCCTCCTCCGCCTCCTCC TCCTCCTCCGCCTCCTCCTCCTCCGCC		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(44): Show ACCCCCCCCCCCCGGTGCGCGGCCTTACCCCTGCACCCCGGGCTCCACAC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA20805.hp2 HG00280.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0201 a0001c0001t0004g0016 a0001c0001t0001g0201 a0001c0001t0004g0016	2	384	0.0052	51	c.-41 others(62): Show c.-4198_-4197insCCCCCCCCCCCCGGTGCGCGGCCTTACCCCTGCA CCCCGGGCTCCACACCC		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4083		chr22	TogoVar
NCK2_chr2_105739912_105899272	105807769	T T	TCCCTCCC others(44): Show TCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCACTCTATCCC TA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	334	0.0030	51	c.-20 others(70): Show c.-200-8639_-200-8638insCCTCCCTCCCTCCCTTCACTCTATCC CTACCCTCCCTCCCTCCCTTCTCTC		NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOR1_chr17_16024157_16220534	16077516	A A	AGGAGAGG others(44): Show AGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGG AG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp1 NA18959.hp2 HG03704.hp2 HG04204.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0223 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0223	3	282	0.0106	51	c.350 others(70): Show c.3502-1815_3502-1814insCTCCCCTCTCCTCCCCTCTCCTCCCC TCTCCTCCCCTCTCCTCCCCTCTCC		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45						chr17	TogoVar
NDUFA5_chr7_123531997_123562818	123559772	C C	CTCAAACT others(44): Show CTCAAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGGGCCATTGCA CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	414	0.0024	51	c.-19 others(62): Show c.-1978_-1977insAGTGCAATGGCCCAATCTTGGCTCACTGCAACCT CTGCCTCCTGAGTTTGA		NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding					1955		chr7	TogoVar
NDUFS1_chr2_206109817_206164444	206140930	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATACACACACACACATATAC AC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0079 a0001c0005t0079	a0001c0005t0079g0175 a0001c0005t0079g0175	1	336	0.0030	51	c.126 others(70): Show c.1262+1010_1262+1011insGTGTATATGTGTGTGTGTGTATATAT ATATATATATATATATATATATATA		NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	12/18						chr2	TogoVar
NDUFV3_chr21_42888309_42918299	42894464	A A	AAATATAT others(44): Show AAATATATAATATATATTATATAATATATATAATATGTTTATATAAATAT AT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19075.hp1 NA19011.hp2 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0212 a0002c0002t0005g0213 a0002c0002t0005g0212 a0002c0002t0005g0213	2	348	0.0058	51	c.48+ others(66): Show c.48+1091_48+1092insATATATATTATATAATATATATAATATGTT TATATAAATATATAATATATA		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
NEMF_chr14_49777083_49857788	49821310	T T	TGGGGGGG others(44): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19011.hp2 NA19076.hp1 HG00597.hp2 NA19011.hp2 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0003 a0002c0002t0005g0005 a0002c0002t0005g0006 a0002c0002t0005g0003 a0002c0002t0005g0005 a0002c0002t0005g0006	3	222	0.0135	51	c.157 others(70): Show c.1577+4506_1577+4556dupCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCC		NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	16/32						chr14	TogoVar
NEU4_chr2_241804193_241822413	241806224	A A	ACCCTCCC others(44): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	319	0.0031	51	c.-30 others(62): Show c.-3054_-3053insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2968		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887926	T T	TCTCCTTC others(44): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	268	0.0037	51	c.-88 others(60): Show c.-886_-885insCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					697		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887929	T T	TCTCCTTC others(44): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	268	0.0037	51	c.-88 others(60): Show c.-883_-882insCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					694		chr1	TogoVar
NEXN_chr1_77883624_77948895	77888009	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	268	0.0037	51	c.-80 others(60): Show c.-803_-802insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTCTTCTTCTTCTTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					614		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79400846	C C	CTCCCCCC others(44): Show CTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCCCCGACCTCCCCC TT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01891.hp1 others(13): Show HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0008 others(7): Show a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0035 a0002c0011 a0002c0019 a0002c0023	a0001c0004t0002 a0001c0005t0005 a0001c0008t0005 others(9): Show a0001c0004t0002 a0001c0005t0005 a0001c0008t0005 a0001c0009t0004 a0001c0009t0014 a0001c0013t0005 a0001c0014t0007 a0001c0014t0018 a0001c0035t0054 a0002c0011t0026 a0002c0019t0005 a0002c0023t0019	a0001c0004t0002g0315 a0001c0005t0005g0320 a0001c0008t0005g0288 others(12): Show a0001c0004t0002g0315 a0001c0005t0005g0320 a0001c0008t0005g0288 a0001c0009t0004g0316 a0001c0009t0014g0198 a0001c0013t0005g0310 a0001c0014t0007g0313 a0001c0014t0018g0311 a0001c0035t0054g0312 a0002c0011t0026g0281 a0002c0019t0005g0002 a0002c0019t0005g0314 a0002c0023t0019g0317 a0002c0023t0019g0318 a0002c0023t0019g0319	16	322	0.0497	51	c.127 others(68): Show c.127+4495_127+4496insTCCCCCCCGCGCCCCGACCTCCTCCCTG TTCCCTCCCCCGACCTCCCCCTT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9						chr18	TogoVar
NGEF_chr2_232873701_233018256	232995389	C C	CTGTATAT others(44): Show CTGTATATATACACAATACAGTATGTATACTGTATATATACACAATACAG TA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0275 a0001c0001t0006g0275	1	362	0.0028	51	c.-75 others(70): Show c.-75+17678_-75+17679insTACTGTATTGTGTATATATACAGTAT ACATACTGTATTGTGTATATATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NHLRC2_chr10_113849661_113922194	113921827	T T	TTTGAAAG others(44): Show TTTGAAAGGAGTCATCTCATTCAGTAGTATCTATCTCTTTAAATTGACAT GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	358	0.0028	51	c.13 others(64): Show c.13291_*13292insTTGAAAGGAGTCATCTCATTCAGTAGTATCTA TCTCTTTAAATTGACATGG		NHLRC2	ENSG00000196865.4	transcript	ENST00000369301.3	protein_coding					4634		chr10	TogoVar
NHLRC4_chr16_562005_574495	565736	A A	AGGAGAGC others(44): Show AGGAGAGCCGTGTGGACTGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGGG GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	51	c.-19 others(62): Show c.-1917_-1916insGGAGAGCCGTGTGGACTGGCTGCTCGGCCTGTGT CTTGGTGTGTCGGGGGT		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1268		chr16	TogoVar
NIM1K_chr5_43187225_43285850	43246444	A A	ACCAAGCC others(44): Show ACCAAGCCACCTCATCTCCCAAGCCACCTCATCTCCCAAGCCACCTCATC TC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	292	0.0034	51	c.292 others(66): Show c.292+418_292+419insACCTCATCTCCCAAGCCACCTCATCTCCCA AGCCACCTCATCTCCCAAGCC		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	434	0.0023	51	c.-19 others(62): Show c.-1977_-1976insGAGGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1819		chr8	TogoVar
NLRP5_chr19_55994726_56066810	55998664	G G	GTGTGTGT others(44): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATAA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0053 a0004c0053	a0004c0053t0003 a0004c0053t0003	a0004c0053t0003g0317 a0004c0053t0003g0317	1	396	0.0025	51	c.-10 others(62): Show c.-1062_-1061insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA TATATATATATATAATA		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding					1061		chr19	TogoVar
NLRP5_chr19_55994726_56066810	56005523	C C	CACACACA others(44): Show CACACACACGCACACACGCAGGTGGCATGCCTGTACACACATATATATTT AT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0206 a0001c0014t0001g0206	1	396	0.0025	51	c.442 others(68): Show c.442+1488_442+1538dupGCACACACGCAGGTGGCATGCCTGTACA CACATATATATTTATACACACAC		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAAGA others(44): Show GAAGAAGAAGAAGAAGAAGAAGAAGAACAAGAACAAGAAGAACAAGAAGA AC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	388	0.0026	51	c.-62 others(60): Show c.-624_-623insAAGAAGAAGAAGAAGAAGAAGAAGAACAAGAACAAG AAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NOP56_chr20_2647632_2663393	2659058	T T	TGAGCAGG others(44): Show TGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG03486.hp1 others(1): Show HG02257.hp2 HG03453.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0012 a0001c0002 a0001c0011 a0001c0012	a0001c0002t0001 a0001c0011t0001 a0001c0012t0001 a0001c0002t0001 a0001c0011t0001 a0001c0012t0001	a0001c0002t0001g0061 a0001c0011t0001g0004 a0001c0012t0001g0007 a0001c0002t0001g0061 a0001c0011t0001g0004 a0001c0012t0001g0007	4	448	0.0089	51	c.76 others(60): Show c.764_*765insGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGG CAGGATGTGGCTACC		NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding					666		chr20	TogoVar
NOP56_chr20_2647632_2663393	2659082	C C	CGCAGATC others(44): Show CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00597.hp1 others(113): Show HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19075.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0006 a0002c0010 others(5): Show a0002c0003 a0002c0006 a0002c0010 a0002c0014 a0002c0016 a0002c0017 a0003c0004 a0004c0007	a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 a0002c0010t0001 a0002c0014t0001 a0002c0016t0001 a0002c0017t0001 a0003c0004t0001 a0004c0007t0001	a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0013 others(22): Show a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0029 a0002c0003t0001g0038 a0002c0003t0001g0042 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0002g0057 a0002c0006t0001g0020 a0002c0006t0001g0028 a0002c0006t0001g0037 a0002c0006t0001g0045 a0002c0010t0001g0034 a0002c0014t0001g0009 a0002c0016t0001g0055 a0002c0017t0001g0073 a0003c0004t0001g0002 a0003c0004t0001g0015 a0003c0004t0001g0023 a0003c0004t0001g0031 a0003c0004t0001g0051 a0003c0004t0001g0058 a0003c0004t0001g0060 a0004c0007t0001g0011	116	448	0.2589	51	c.78 others(60): Show c.788_*789insGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCA AAGATGATGGGAAAT		NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding					690		chr20	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAG AG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02717.hp1 HG03490.hp1 HG01257.hp1 HG02717.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004	a0001c0001t0002g0160 a0001c0002t0001g0123 a0001c0002t0004g0015 a0001c0001t0002g0160 a0001c0002t0001g0123 a0001c0002t0004g0015	3	182	0.0165	51	c.178 others(70): Show c.178-25798_178-25797insAGAGAGAGAGAAGAGAGGAGAGAGAG AGAGAAGAGAGAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGA others(44): Show TCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCC TC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01099.hp2 others(23): Show HG00438.hp2 HG00639.hp1 HG01099.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG03831.hp2 NA18945.hp2 NA18955.hp2 NA18967.hp1 NA18982.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19005.hp1 NA19009.hp1 NA19070.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0043 a0001c0063 a0002c0010 a0003c0015 a0011c0051	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0004t0005 a0001c0004t0010 a0001c0005t0008 a0001c0007t0010 a0001c0008t0003 a0001c0011t0001 a0001c0012t0001 a0001c0043t0001 a0001c0063t0010 a0002c0010t0002 a0003c0015t0001 a0011c0051t0001	a0001c0001t0001g0267 a0001c0001t0003g0189 a0001c0001t0003g0237 others(23): Show a0001c0001t0001g0267 a0001c0001t0003g0189 a0001c0001t0003g0237 a0001c0001t0003g0253 a0001c0001t0003g0296 a0001c0001t0003g0312 a0001c0001t0007g0262 a0001c0004t0005g0155 a0001c0004t0010g0196 a0001c0005t0008g0026 a0001c0007t0010g0278 a0001c0007t0010g0279 a0001c0008t0003g0313 a0001c0011t0001g0260 a0001c0011t0001g0261 a0001c0011t0001g0264 a0001c0011t0001g0266 a0001c0012t0001g0263 a0001c0043t0001g0198 a0001c0063t0010g0268 a0002c0010t0002g0160 a0002c0010t0002g0161 a0002c0010t0002g0162 a0003c0015t0001g0191 a0003c0015t0001g0265 a0011c0051t0001g0269	26	324	0.0803	51	c.140 others(68): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCTCCTGGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535680	G G	GCACTCAG others(44): Show GCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGG AT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG03490.hp2 others(3): Show HG01168.hp1 HG01169.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG04228.hp1	a0001 a0021 a0001 a0021	a0001c0002 a0001c0005 a0021c0068 a0001c0002 a0001c0005 a0021c0068	a0001c0002t0006 a0001c0005t0025 a0021c0068t0006 a0001c0002t0006 a0001c0005t0025 a0021c0068t0006	a0001c0002t0006g0002 a0001c0002t0006g0088 a0001c0002t0006g0089 others(2): Show a0001c0002t0006g0002 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0005t0025g0068 a0021c0068t0006g0145	6	324	0.0185	51	c.140 others(68): Show c.140+8343_140+8344insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCGGGAGGGATCCTGAGTG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535893	G G	GGGGGAGC others(44): Show GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0295 a0001c0009t0001g0295	1	324	0.0031	51	c.140 others(68): Show c.140+8080_140+8130dupTCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(44): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02155.hp1 NA18970.hp1 HG02155.hp1 NA18970.hp1	a0021 a0021	a0021c0052 a0021c0054 a0021c0052 a0021c0054	a0021c0052t0003 a0021c0054t0001 a0021c0052t0003 a0021c0054t0001	a0021c0052t0003g0147 a0021c0054t0001g0201 a0021c0052t0003g0147 a0021c0054t0001g0201	2	260	0.0077	51	c.44_ others(56): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGG	p.Gly others(62): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041069	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0050 a0002c0009t0002g0050	1	168	0.0060	51	c.74- others(68): Show c.74-11083_74-11082insATATATATATATATATATATATATATAT ATATATATATATATATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTUM_chr17_81947507_81966187	81952348	G G	GGGAGGGG others(44): Show GGGAGGGGAGGGAGAGGAGGAGGGCAGGGAGAGGAGGAGGGGAGGGAGAG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(92): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19066.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0014 a0006c0010 others(1): Show a0001c0001 a0001c0014 a0006c0010 a0009c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0014t0001 a0006c0010t0001 a0009c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0022 a0001c0001t0004g0013 a0001c0001t0004g0127 a0001c0001t0007g0016 a0001c0001t0010g0065 a0001c0014t0001g0122 a0006c0010t0001g0050 a0009c0015t0001g0123	95	384	0.2474	51	c.61 others(60): Show c.612_*613insTCCTCTCCCTCCCCTCCTCCTCTCCCTGCCCTCCTC CTCTCCCTCCCCTCC		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding					158		chr17	TogoVar
NOTUM_chr17_81947507_81966187	81952357	G G	GGGAGAGG others(44): Show GGGAGAGGAGGAGGGCAGGGAGAGGAGGAGGGGAGGGAGGAGGAGGAGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	384	0.0026	51	c.60 others(60): Show c.603_*604insTCCCCTCCTCCTCCTCCCTCCCCTCCTCCTCTCCCT GCCCTCCTCCTCTCC		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding					149		chr17	TogoVar
NOX4_chr11_89319353_89496375	89424375	A A	ATTATTTC others(44): Show ATTATTTCCAGAAAAAGTAGATATATCTACTTTTTCTGGAAATAATGGTA TT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG01109.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0029 a0001c0002t0011 a0001c0002t0029	a0001c0002t0011g0153 a0001c0002t0029g0154 a0001c0002t0011g0153 a0001c0002t0029g0154	2	288	0.0069	51	c.549 others(68): Show c.549-2444_549-2394dupAATACCATTATTTCCAGAAAAAGTAGAT ATATCTACTTTTTCTGGAAATAA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	7/17						chr11	TogoVar
NPBWR1_chr8_52934182_52948734	52936716	A A	ACTAGTTG others(44): Show ACTAGTTGACATATGTAGAGTTTTGCACCCAACAAGTGCAAAACAATTTT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	416	0.0024	51	c.-28 others(62): Show c.-2848_-2847insCTAGTTGACATATGTAGAGTTTTGCACCCAACAA GTGCAAAACAATTTTTC		NPBWR1	ENSG00000288611.1	transcript	ENST00000674939.1	protein_coding					2465		chr8	TogoVar
NPHP4_chr1_5857811_5997425	5971937	A A	AATAAATC others(44): Show AATAAATCATTTAAATGCTCCTGTCTTAATGCCTTCATCTTCAAAAACAC GG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	208	0.0048	51	c.280 others(68): Show c.280-2729_280-2679dupCCGTGTTTTTGAAGATGAAGGCATTAAG ACAGGAGCATTTAAATGATTTAT		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
NPIPA8_chr16_18312919_18341736	18341412	C C	CGGGATGA others(44): Show CGGGATGAGGATGGGAATTGGGGGAGCGGGATGAGGATGGGAATTGGGGA GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0027 a0002c0004t0001g0027	1	40	0.0250	51	c.-51 others(62): Show c.-5106_-5105insCCTCCCCAATTCCCATCCTCATCCCGCTCCCCCA ATTCCCATCCTCATCCC		NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding					4677		chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28356703	T T	TGGGGCGG others(44): Show TGGGGCGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGG AG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0283	1	361	0.0028	51	c.121 others(68): Show c.121-3643_121-3642insCTCCCCTTCCCCTCCCCCTCCCCTTCCC CTCCCCCTCCCCTCCCCCGCCCC		NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	2/7						chr16	TogoVar
NRSN1_chr6_24121215_24152530	24150852	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	406	0.0025	51	c.49 others(62): Show c.4906_*4907insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG		NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding					3323		chr6	TogoVar

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