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 genename

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Snpeff haplotype class

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(45): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp1 NA18963.hp1 HG01496.hp1 HG02109.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0001g0074 a0001c0001t0002g0116 a0001c0001t0002g0122	3	381	0.0079	52	c.38 others(63): Show c.3853_*3854insACACACACACACACACACACACACACACACACAC ACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTCACCCA others(45): Show GTCACCCAGGCTGGAGTGCAGTGATGCCATCTCGGCCCACTGCAGCCCCT ACC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0284 a0001c0007t0001g0284	1	300	0.0033	52	c.59+ others(67): Show c.59+2079_59+2080insTCACCCAGGCTGGAGTGCAGTGATGCCATC TCGGCCCACTGCAGCCCCTACC	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148112152	G G	GTATATAT others(45): Show GTATATATATATATATATATATATATATATATACATATATATATACATAT ATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG03139.hp2 HG02451.hp2 HG03098.hp2 HG03139.hp2	a0000 a0000	a0000c0004 a0000c0034 a0000c0004 a0000c0034	a0000c0004t0004 a0000c0034t0020 a0000c0004t0004 a0000c0034t0020	a0000c0004t0004g0246 a0000c0004t0004g0248 a0000c0034t0020g0013 a0000c0004t0004g0246 a0000c0004t0004g0248 a0000c0034t0020g0013	3	388	0.0077	52	c.163 others(71): Show c.1638-1612_1638-1611insTATATATGTATATATATATGTATATA TATATATATATATATATATATATATA	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	15/23			chr1	TogoVar
NCAM2_chr21_20993409_21548329	21411101	T T	TATATATA others(45): Show TATATATACACACACATATATATGTGTGTGTATATATATATATATACACA CAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0014 a0004c0013t0002g0014	1	132	0.0076	52	c.138 others(69): Show c.1383+641_1383+642insTATATACACACACATATATATGTGTGTG TATATATATATATATACACACACA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21411101	T T	TATATATA others(45): Show TATATATACACACATATATATATGTGTGTGTATATATATATATATACACA CAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG02293.hp1 others(7): Show HG00639.hp2 HG01346.hp1 HG02293.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0029 a0001c0001t0038 a0001c0004t0007	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0002g0072 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0002g0072 a0001c0001t0002g0109 a0001c0001t0006g0067 a0001c0001t0011g0035 a0001c0001t0022g0102 a0001c0001t0029g0061 a0001c0001t0038g0053 a0001c0004t0007g0077	10	132	0.0758	52	c.138 others(69): Show c.1383+641_1383+642insTATATACACACATATATATATGTGTGTG TATATATATATATATACACACACA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(45): Show ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	384	0.0026	52	c.-41 others(63): Show c.-4198_-4197insCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGC ACCCCGGGCTCCACACCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4083		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(45): Show ACCCCCCCCCCCCGGTGCGCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp1 others(1): Show HG00140.hp2 HG00733.hp2 HG01081.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0205 others(1): Show a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0205 a0001c0001t0004g0207	4	384	0.0104	52	c.-41 others(63): Show c.-4198_-4197insCCCCCCCCCCCCGGTGCGCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4083		chr22	TogoVar
NCBP2L_chrX_107772733_107800829	107782238	T T	TATATATA others(45): Show TATATATATATAAATATATATATAAATATATATATATAAATATATATATA TAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	303	0.0033	52	c.-73 others(69): Show c.-73+4427_-73+4428insTATAAATATATATATAAATATATATATA AATATATATATATAAATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCOR1_chr17_16024157_16220534	16127543	A A	ATATATAC others(45): Show ATATATACACATGTGTATATATGTATGTATATACACATGTGTATATATGT ATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp1 HG02965.hp1 others(6): Show HG01934.hp1 HG02559.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(6): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025	9	282	0.0319	52	c.151 others(71): Show c.1510-1338_1510-1337insCATACATATATACACATGTGTATATA CATACATATATACACATGTGTATATA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16127709	G G	GTATGTGT others(45): Show GTATGTGTATATATACATATATGTGTATATATACATATATGTATATATGT GTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20300.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0033 a0001c0001t0001g0035	2	282	0.0071	52	c.151 others(71): Show c.1510-1504_1510-1503insTACACATATATACATATATGTATATA TACACATATATGTATATATACACATA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45			chr17	TogoVar
NCOR2_chr12_124319415_124572612	124320544	A A	AGGTGGGA others(45): Show AGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCTTTGGGG GTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03927.hp2 HG02602.hp1 HG03927.hp2	a0008 a0008	a0008c0020 a0008c0144 a0008c0020 a0008c0144	a0008c0020t0003 a0008c0144t0015 a0008c0020t0003 a0008c0144t0015	a0008c0020t0003g0185 a0008c0144t0015g0159 a0008c0020t0003g0185 a0008c0144t0015g0159	2	234	0.0086	52	c.48 others(63): Show c.4857_*4858insAACCCCCAAAGAAAGAGGTCATCTCACCTACCCC CAAAGAGGTCATCCCACC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		3870		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124320644	T T	TTCTTTGG others(45): Show TTCTTTGGGGGTAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19067.hp1 HG02080.hp1 NA19067.hp1	a0003 a0005 a0003 a0005	a0003c0025 a0005c0069 a0003c0025 a0005c0069	a0003c0025t0024 a0005c0069t0024 a0003c0025t0024 a0005c0069t0024	a0003c0025t0024g0206 a0005c0069t0024g0207 a0003c0025t0024g0206 a0005c0069t0024g0207	2	234	0.0086	52	c.47 others(63): Show c.4757_*4758insGGTCATCCCACCTACCCCCAAAGAAAGAGGTCAT CCCACCTACCCCCAAAGA	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		3770		chr12	TogoVar
NECAB1_chr8_90786775_90964393	90906874	C C	CATATATA others(45): Show CATATATATATATATATGTATATATATATATATGTATGTATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0177	1	248	0.0040	52	c.358 others(71): Show c.358-10617_358-10616insTATATATATATATATGTATATATATA TATATGTATGTATATATATATATATA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB2_chr16_83963244_84007776	83974951	G G	GGTGCGGG others(45): Show GGTGCGGGAATGGGAACCGGTGTGCAGGGATGAGAGCAGGTGTGCAGGGA GGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp2 NA18906.hp1 others(1): Show HG01891.hp1 HG03453.hp2 NA18906.hp1 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0036 a0002c0002 a0004c0036	a0002c0002t0003 a0002c0002t0019 a0004c0036t0005 a0002c0002t0003 a0002c0002t0019 a0004c0036t0005	a0002c0002t0003g0253 a0002c0002t0003g0255 a0002c0002t0019g0254 others(1): Show a0002c0002t0003g0253 a0002c0002t0003g0255 a0002c0002t0019g0254 a0004c0036t0005g0214	4	354	0.0113	52	c.226 others(69): Show c.226+2780_226+2781insGGGAATGGGAACCGGTGTGCAGGGATGA GAGCAGGTGTGCAGGGAGGTGTGC	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NECAP1_chr12_8077274_8102881	8100747	A A	AAAAGAAT others(45): Show AAAAGAATAAAGATTAAAAATATAACAAATGAAAAATACAATGAAAAAAA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	436	0.0023	52	c.46 others(63): Show c.4657_*4658insAAAGAATAAAGATTAAAAATATAACAAATGAAAA ATACAATGAAAAAAATAT	NECAP1	ENSG00000089818.18	transcript	ENST00000339754.11	protein_coding		2867		chr12	TogoVar
NEGR1_chr1_71390943_72287539	71898842	A A	AGCAAATA others(45): Show AGCAAATATATATAATATATTGCAAATATATATATTGCAAATATATATAT ATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 NA20129.hp2 HG01884.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0005g0063 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0005g0063	3	64	0.0469	52	c.409 others(71): Show c.409+36185_409+36236dupAATATATATATATTTGCAATATATAT ATTTGCAATATATTATATATATTTGC	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	324	0.0031	52	c.390 others(71): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NF2_chr22_29598633_29703598	29676948	C C	CCAGCACC others(45): Show CCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTC TCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(28): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18953.hp2 NA19081.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0001c0001t0017 a0001c0001t0018 others(2): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0018 a0001c0001t0042 a0003c0005t0017	a0001c0001t0005g0001 a0001c0001t0005g0252 a0001c0001t0005g0297 others(27): Show a0001c0001t0005g0001 a0001c0001t0005g0252 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0017g0002 a0001c0001t0017g0317 a0001c0001t0017g0323 a0001c0001t0018g0167 a0001c0001t0018g0169 a0001c0001t0018g0223 a0001c0001t0042g0140 a0003c0005t0017g0002	31	344	0.0901	52	c.144 others(71): Show c.1447-1239_1447-1188dupAGATCAGAAAACAGGACATCCCTGGC ACCCAAGGAGCCTTCTCTCAGCACCC	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATCTCT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0078 a0001c0001t0011g0078	1	156	0.0064	52	c.11 others(65): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATATATCTCTCTC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3968		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATCTCTCT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02698.hp2 HG00099.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0002t0014 a0001c0001t0057 a0001c0002t0014	a0001c0001t0057g0093 a0001c0002t0014g0020 a0001c0001t0057g0093 a0001c0002t0014g0020	2	156	0.0128	52	c.11 others(65): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATATCTCTCTCTC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3968		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATCTCTCTCT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	156	0.0064	52	c.11 others(65): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATCTCTCTCTCTC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3968		chr1	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATACAG others(45): Show ATATACAGTATGTATACTGTATATATATACAGTATGTATACGTATGTATA CTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02630.hp1 others(17): Show HG02145.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0009 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0011 a0001c0003t0010 a0001c0005t0006 a0001c0005t0007 a0001c0013t0001 a0002c0009t0002 a0004c0016t0022	a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0337 others(17): Show a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0336 a0001c0001t0005g0160 a0001c0001t0006g0277 a0001c0001t0008g0120 a0001c0002t0011g0122 a0001c0003t0010g0335 a0001c0005t0006g0334 a0001c0005t0007g0338 a0001c0013t0001g0256 a0001c0013t0001g0278 a0002c0009t0002g0253 a0002c0009t0002g0254 a0002c0009t0002g0255 a0004c0016t0022g0006	20	362	0.0553	52	c.-75 others(71): Show c.-75+17495_-75+17496insCAGTATACATACGTATACATACTGTA TATATATACAGTATACATACTGTATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATACAG others(45): Show ATATACAGTATGTATACTGTATATATATACAGTATGTATATGTATGTATA CTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG02055.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0005 a0001c0001t0002 a0001c0005t0005	a0001c0001t0002g0123 a0001c0005t0005g0287 a0001c0001t0002g0123 a0001c0005t0005g0287	2	362	0.0055	52	c.-75 others(71): Show c.-75+17495_-75+17496insCAGTATACATACATATACATACTGTA TATATATACAGTATACATACTGTATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159540	T T	TATATATA others(45): Show TATATATATGCATATATATATATGCATATATATATATGCATATATATATA TGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	350	0.0029	52	c.-1+ others(66): Show c.-1+1179_1-1178insGCATATATATATATGCATATATATATATGCA TATATATATATGCATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHLRC4_chr16_562005_574495	565736	A A	AGGAGAGC others(45): Show AGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGG GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(60): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 NA18973.hp2 NA18982.hp2 NA18986.hp2 NA19043.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0007g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0013g0001	63	424	0.1486	52	c.-19 others(63): Show c.-1917_-1916insGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTG TCTTGGTGTGTCGGGGGT	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1268		chr16	TogoVar
NHLRC4_chr16_562005_574495	565743	C C	CCGTGTGG others(45): Show CCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGGGGTGGAG AGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(142): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0014g0001 a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0014g0001	145	424	0.3420	52	c.-19 others(63): Show c.-1910_-1909insCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGT GTGTCGGGGGTGGAGAGG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1261		chr16	TogoVar
NHSL2_chrX_71905845_72158286	71963976	T T	TATATATA others(45): Show TATATATATATATATATATATATATACATATATATATGTGTATATATATA TAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0061 a0003c0004t0061	a0003c0004t0061g0136 a0003c0004t0061g0136	1	187	0.0054	52	c.280 others(71): Show c.280+52625_280+52626insATATATATACATATATATATGTGTAT ATATATATACATATATATATATATAT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	71964023	A A	ATACATAT others(45): Show ATACATATATATATATGTATATACATATATATATGTGTATATATATATGT GTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	187	0.0054	52	c.280 others(71): Show c.280+52657_280+52658insACATATATATATATGTATATACATAT ATATATGTGTATATATATATGTGTGT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17523716	T T	TCCCCTCA others(45): Show TCCCCTCACACCTCAATAAAAGCCCAGGCTTGTGTTTCTTGGCTTCCCAG GTC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	164	0.0061	52	c.565 others(73): Show c.565+147397_565+147398insCTCACACCTCAATAAAAGCCCAGG CTTGTGTTTCTTGGCTTCCCAGGTCCCC	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NID2_chr14_51999809_52074059	52035878	A A	ATACATAT others(45): Show ATACATATATATATATGTATATATATATACATATATATATATATATTTAT ATT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19005.hp2 NA18944.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	372	0.0054	52	c.225 others(71): Show c.2257+2868_2257+2869insAATATAAATATATATATATATATGTA TATATATATACATATATATATATGTA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NLGN1_chr3_173392744_174299372	173539679	C C	CATACATA others(45): Show CATACATATATGTACATATGCACATATATACATATATGTACATATGCACA TAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02717.hp1 others(2): Show HG02109.hp1 HG02109.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0001t0028 a0001c0001t0039	a0001c0001t0002g0039 a0001c0001t0004g0024 a0001c0001t0026g0012 others(2): Show a0001c0001t0002g0039 a0001c0001t0004g0024 a0001c0001t0026g0012 a0001c0001t0028g0029 a0001c0001t0039g0006	5	44	0.1136	52	c.-32 others(73): Show c.-320-64581_-320-64530dupGCACATATATACATATATGTACAT ATGCACATATATACATATATGTACATAT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	173539741	T T	TGTGCATA others(45): Show TGTGCATATGCACATATATACATATATGTGCATATGCACATATATACATA TAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG03139.hp2 others(1): Show HG02922.hp2 HG03041.hp2 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0031 a0001c0001t0034 others(1): Show a0001c0001t0009 a0001c0001t0031 a0001c0001t0034 a0001c0001t0037	a0001c0001t0009g0028 a0001c0001t0031g0001 a0001c0001t0034g0025 others(1): Show a0001c0001t0009g0028 a0001c0001t0031g0001 a0001c0001t0034g0025 a0001c0001t0037g0009	4	44	0.0909	52	c.-32 others(73): Show c.-320-64536_-320-64535insGCATATGCACATATATACATATAT GTGCATATGCACATATATACATATAGGT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP13_chr19_55890945_55937336	55930884	A A	ATATATAT others(45): Show ATATATATATATATATATATGTATATATATATACGTATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	440	0.0023	52	c.319 others(69): Show c.319+1108_319+1109insCGTATATATATATATATACGTATATATA TATACATATATATATATATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930884	A A	ATATATAT others(45): Show ATATATATATATATATATATGTATATATATATATGTATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp1 HG02257.hp1 others(6): Show HG01192.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0023t0001 a0001c0001t0001 a0001c0002t0001 a0001c0023t0001	a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0002t0001g0256 others(6): Show a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0023t0001g0257	9	440	0.0205	52	c.319 others(69): Show c.319+1108_319+1109insCGTATATATATATATATACATATATATA TATACATATATATATATATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930884	A A	ATGTATAT others(45): Show ATGTATATATATATATATATGTATATATATATATGTATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0255 a0001c0050t0001g0255	1	440	0.0023	52	c.319 others(69): Show c.319+1108_319+1109insCGTATATATATATATATACATATATATA TATACATATATATATATATATACA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP1_chr17_5509118_5589509	5518638	G G	GGCTCAAG others(45): Show GGCTCAAGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCATCA CCA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0306 a0003c0004t0001g0306	1	404	0.0025	52	c.391 others(69): Show c.3916-803_3916-752dupTGGTGATGCACGCCTGTAGTCCCAGCTA CTCAGGAGGCTGAGGCACTTGAGC	NLRP1	ENSG00000091592.17	transcript	ENST00000572272.6	protein_coding	14/16			chr17	TogoVar
NLRP8_chr19_55942832_55993629	55993483	C C	CCCCCCTC others(45): Show CCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0013 a0013	a0013c0066 a0013c0066	a0013c0066t0010 a0013c0066t0010	a0013c0066t0010g0317 a0013c0066t0010g0317	1	350	0.0029	52	c.55 others(63): Show c.5570_*5571insCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCC CTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4855		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(45): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	52	c.48 others(63): Show c.4818_*4819insAAAAAAATATATATATATATATATATATATATAT ATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NOB1_chr16_69736871_69759926	69738632	A A	ATGTATGT others(45): Show ATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTAAGAGTCTCG CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18747.hp1 NA18940.hp1 others(2): Show NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18994.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0127 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0137	5	449	0.0111	52	c.36 others(63): Show c.3699_*3700insCAGCGAGACTCTTACATACATACATACATACATA CATACATACATACATACA	NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding		3238		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132156615	C C	CACCACTA others(45): Show CACCACTACACACACTACACGCACAGTACACACACTACACACACAACATA CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(38): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03688.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0020	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0016 a0003c0043 a0004c0029 a0020c0018	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0016t0001 a0003c0043t0001 a0004c0029t0001 a0020c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0084 others(38): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0145 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0005t0001g0202 a0001c0005t0001g0203 a0001c0005t0001g0205 a0001c0005t0001g0206 a0002c0002t0001g0083 a0002c0002t0001g0199 a0002c0016t0001g0191 a0003c0043t0001g0253 a0004c0029t0001g0269 a0020c0018t0001g0149	41	294	0.1395	52	c.42 others(63): Show c.4214_*4215insACCACTACACACACTACACGCACAGTACACACAC TACACACACAACATACAA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4148		chr12	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	337	0.0030	52	c.180 others(69): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(45): Show ATATATATAGATACATATATATATATATATATATATATATATTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0083 a0001c0001t0014g0083	1	182	0.0055	52	c.105 others(71): Show c.105+11493_105+11494insATATATAGATACATATATATATATAT ATATATATATATATTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(45): Show ATATATATATAGATACATATATATATATATATATATATATTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0010 a0001c0005t0007g0010	1	182	0.0055	52	c.105 others(71): Show c.105+11493_105+11494insATATATATAGATACATATATATATAT ATATATATATATTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(45): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03831.hp1 HG00735.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0006 a0001c0002t0002 a0001c0003t0006	a0001c0002t0002g0014 a0001c0003t0006g0114 a0001c0002t0002g0014 a0001c0003t0006g0114	2	182	0.0110	52	c.177 others(71): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(45): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0123 a0001c0017t0001g0123	1	294	0.0034	52	c.-42 others(71): Show c.-420-4241_-420-4240insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535673	G G	GAGGGGGA others(45): Show GAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0187 a0002c0010t0001g0187	1	324	0.0031	52	c.140 others(69): Show c.140+8350_140+8351insTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCT	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535680	G G	GCACTCAG others(45): Show GCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGG GAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00735.hp1 others(35): Show HG00140.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03491.hp1 HG03516.hp2 HG03710.hp1 HG04115.hp2 NA18948.hp1 NA18975.hp2 NA18982.hp2 NA19002.hp2 NA19030.hp2 NA20752.hp2	a0001 a0006 a0012 others(3): Show a0001 a0006 a0012 a0013 a0015 a0023	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0064 a0006c0066 a0012c0067 a0013c0065 a0015c0034 a0023c0047	a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 others(19): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0004t0006 a0001c0006t0002 a0001c0006t0004 a0001c0007t0006 a0001c0008t0004 a0001c0009t0002 a0001c0011t0002 a0001c0014t0002 a0001c0019t0002 a0001c0020t0002 a0001c0029t0006 a0001c0064t0006 a0006c0066t0002 a0012c0067t0009 a0013c0065t0005 a0015c0034t0014 a0023c0047t0004	a0001c0001t0004g0064 a0001c0001t0004g0090 a0001c0001t0004g0174 others(35): Show a0001c0001t0004g0064 a0001c0001t0004g0090 a0001c0001t0004g0174 a0001c0001t0013g0054 a0001c0002t0004g0097 a0001c0002t0005g0050 a0001c0002t0005g0072 a0001c0002t0005g0091 a0001c0002t0005g0092 a0001c0002t0005g0096 a0001c0002t0005g0141 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0004t0006g0147 a0001c0006t0002g0100 a0001c0006t0002g0143 a0001c0006t0004g0056 a0001c0007t0006g0118 a0001c0007t0006g0119 a0001c0008t0004g0031 a0001c0009t0002g0042 a0001c0009t0002g0048 a0001c0009t0002g0069 a0001c0009t0002g0101 a0001c0011t0002g0073 a0001c0014t0002g0095 a0001c0019t0002g0150 a0001c0020t0002g0055 a0001c0020t0002g0098 a0001c0020t0002g0111 a0001c0029t0006g0070 a0001c0029t0006g0071 a0001c0064t0006g0123 a0006c0066t0002g0099 a0012c0067t0009g0183 a0013c0065t0005g0110 a0015c0034t0014g0087 a0023c0047t0004g0086	38	324	0.1173	52	c.140 others(69): Show c.140+8343_140+8344insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTUM_chr17_81947507_81966187	81952394	A A	AGAGGAGG others(45): Show AGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGG GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	384	0.0026	52	c.56 others(61): Show c.566_*567insCTCCCTCCCCTCCTCCTCTCCCTCCCCTCCTCCTCT CCCTCCCCTCCTCCTC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		112		chr17	TogoVar
NOTUM_chr17_81947507_81966187	81952402	A A	AGGGGAGG others(45): Show AGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAG GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	384	0.0026	52	c.55 others(61): Show c.558_*559insCTCCTCCTCTCCCTCCCCTCCTCCTCTCCCTCCCCT CCTCCTCTCCCTCCCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		104		chr17	TogoVar
NOTUM_chr17_81947507_81966187	81952441	A A	AGGGAGAG others(45): Show AGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGG GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0060 a0001c0001t0010g0060	1	384	0.0026	52	c.51 others(61): Show c.519_*520insCTCCCCTCCTCCTCTCCCTCCCCTCCTCCTCTCCCT CCCCTCCTCCTCTCCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		65		chr17	TogoVar

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