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 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
NRG3_chr10_81870194_82992178	82491293	A A	AATATATA others(13): Show AATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03017.hp1 HG01175.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0003g0010 a0001c0001t0001g0053 a0001c0001t0003g0010	2	66	0.0303	20	c.953 others(41): Show c.953+132444_953+132445insCATATATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82720810	C C	CATATACA others(13): Show CATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01884.hp2 HG02055.hp2 HG02630.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0007t0003 a0002c0003t0004 a0001c0001t0003 a0001c0007t0003 a0002c0003t0004	a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0007t0003g0034 others(1): Show a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0007t0003g0034 a0002c0003t0004g0047	4	66	0.0606	20	c.954 others(39): Show c.954-17762_954-17761insCATATATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82720810	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0059 a0001c0002t0002g0039 a0001c0001t0003g0059 a0001c0002t0002g0039	2	66	0.0303	20	c.954 others(39): Show c.954-17754_954-17735dupATATATATATATATATATAT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82869567	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20300.hp1 HG01081.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0051 a0001c0002t0002g0014 a0001c0001t0001g0051 a0001c0002t0002g0014	2	66	0.0303	20	c.105 others(39): Show c.1054+4169_1054+4188dupATTTTATTTTATTTTATTTT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP1_chr21_14956235_15070000	15019470	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18966.hp2 NA18956.hp1 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0035 a0002c0003t0003g0057 a0002c0003t0003g0035 a0002c0003t0003g0057	2	398	0.0050	20	c.-45 others(39): Show c.-457-5024_-457-5005dupAAAAAAAAAAAAAAAAAAAA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP2_chr12_2820348_2840035	2835159	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA19000.hp1 NA19009.hp2 others(1): Show NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0036 a0001c0002t0002g0003 a0001c0002t0002g0036	4	422	0.0095	20	c.-19 others(29): Show c.-196_-177dupCACACACACACACACACACA	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		125		chr12	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	422	0.0024	20	c.-20 others(29): Show c.-208_-207insTCTCTCTCACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02922.hp1 others(3): Show HG02451.hp1 HG02809.hp1 HG02922.hp1 HG03130.hp1 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0002t0002 a0001c0004t0001 a0001c0001t0008 a0001c0002t0002 a0001c0004t0001	a0001c0001t0008g0026 a0001c0002t0002g0003 a0001c0002t0002g0018 others(1): Show a0001c0001t0008g0026 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0004t0001g0016	6	422	0.0142	20	c.-20 others(29): Show c.-208_-207insTCTCACACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRM_chr6_30683049_30695984	30688435	C C	CCCACTCT others(13): Show CCCACTCTTCCTTGCTGGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	443	0.0023	20	c.20 others(29): Show c.206_*225dupTCACCAGCAAGGAAGAGTGG	NRM	ENSG00000137404.15	transcript	ENST00000376421.7	protein_coding	4/4	225		chr6	TogoVar
NRP1_chr10_33172493_33339667	33188910	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19010.hp2 NA18983.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0152 a0001c0008t0003g0257 a0001c0003t0003g0152 a0001c0008t0003g0257	2	262	0.0076	20	c.206 others(39): Show c.2063-2442_2063-2423dupATATATATATATATATATAT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	13/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199361	T T	TTCTATAT others(13): Show TTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03710.hp1 HG04228.hp2 HG02135.hp2 HG03710.hp1 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0026 a0001c0005 a0001c0009 a0001c0026	a0001c0005t0015 a0001c0009t0001 a0001c0026t0003 a0001c0005t0015 a0001c0009t0001 a0001c0026t0003	a0001c0005t0015g0098 a0001c0009t0001g0180 a0001c0026t0003g0241 a0001c0005t0015g0098 a0001c0009t0001g0180 a0001c0026t0003g0241	3	262	0.0115	20	c.186 others(39): Show c.1865-1653_1865-1652insTATATATATATATATATAGA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0257 a0001c0008t0003g0257	1	262	0.0038	20	c.186 others(39): Show c.1865-1681_1865-1680insAATATATATATATATATATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP2_chr2_205677501_205803131	205784001	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG02258.hp1 HG02965.hp2	a0002 a0002	a0002c0016 a0002c0027 a0002c0016 a0002c0027	a0002c0016t0001 a0002c0027t0064 a0002c0016t0001 a0002c0027t0064	a0002c0016t0001g0274 a0002c0027t0064g0177 a0002c0016t0001g0274 a0002c0027t0064g0177	2	352	0.0057	20	c.242 others(39): Show c.2426-8232_2426-8213dupCACACACACACACACACACA	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRSN1_chr6_24121215_24152530	24134004	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	406	0.0025	20	c.-9- others(33): Show c.-9-297_-9-278dupGTGTGTGTGTGTGTGTGTGT	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(13): Show CAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG03130.hp1 others(5): Show HG02280.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03486.hp1 NA18906.hp1 NA19030.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0029 a0001c0001t0051	a0001c0001t0001g0227 a0001c0001t0002g0160 a0001c0001t0003g0005 others(5): Show a0001c0001t0001g0227 a0001c0001t0002g0160 a0001c0001t0003g0005 a0001c0001t0003g0175 a0001c0001t0004g0011 a0001c0001t0008g0043 a0001c0001t0029g0120 a0001c0001t0051g0005	8	406	0.0197	20	c.48 others(31): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03669.hp2 NA18747.hp1 others(2): Show HG02818.hp2 HG03669.hp2 NA18747.hp1 NA18940.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0074 a0001c0001t0001g0214	5	406	0.0123	20	c.49 others(31): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRSN2_chr20_342111_359862	348484	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03130.hp2 HG03209.hp1 others(1): Show HG02135.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0029 a0001c0001t0001g0154 a0002c0004t0009g0070 a0001c0001t0001g0029 a0001c0001t0001g0154 a0002c0004t0009g0070	4	414	0.0097	20	c.-12 others(37): Show c.-121-740_-121-721dupGTGTGTGTGTGTGTGTGTGT	NRSN2	ENSG00000125841.13	transcript	ENST00000382285.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
NRXN1_chr2_49913503_51037132	50019641	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02109.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0026 a0001c0003t0014 a0001c0003t0026	a0001c0003t0014g0042 a0001c0003t0026g0006 a0001c0003t0014g0042 a0001c0003t0026g0006	2	116	0.0172	20	c.412 others(41): Show c.4128+33610_4128+33629dupTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50086845	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0044 a0001c0003t0002 a0001c0001t0044 a0001c0003t0002	a0001c0001t0044g0058 a0001c0003t0002g0024 a0001c0001t0044g0058 a0001c0003t0002g0024	2	116	0.0172	20	c.371 others(39): Show c.3718+4477_3718+4478insCTTCTCTCTCTCTCTCTCTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	19/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334209	A A	ATATATAT others(13): Show ATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	116	0.0086	20	c.336 others(41): Show c.3365-97240_3365-97239insCATACATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50354586	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	116	0.0086	20	c.336 others(43): Show c.3364+110855_3364+110856insGTATATATATATATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50408837	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0005 a0001c0001t0023g0005	1	116	0.0086	20	c.336 others(41): Show c.3364+56585_3364+56604dupGAGAGAGAGAGAGAGAGAGA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19030.hp2 HG01433.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0046 a0001c0001t0035 a0001c0001t0046	a0001c0001t0035g0061 a0001c0001t0046g0039 a0001c0001t0035g0061 a0001c0001t0046g0039	2	116	0.0172	20	c.336 others(41): Show c.3364+17685_3364+17704dupTATATATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18950.hp1 NA21309.hp1 HG03209.hp2 NA18950.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0010 a0001c0002t0003 a0001c0005t0030 a0001c0001t0010 a0001c0002t0003 a0001c0005t0030	a0001c0001t0010g0025 a0001c0002t0003g0079 a0001c0005t0030g0016 a0001c0001t0010g0025 a0001c0002t0003g0079 a0001c0005t0030g0016	3	116	0.0259	20	c.336 others(41): Show c.3364+17704_3364+17705insTATATATATATATATATAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50515600	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0024	1	116	0.0086	20	c.237 others(39): Show c.2375-9003_2375-8984dupACACACACACACACACACAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	12/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50560424	G G	GTTTGTTT others(13): Show GTTTGTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0083 a0001c0002t0005g0077 a0001c0002t0005g0083	2	116	0.0172	20	c.132 others(39): Show c.1321-7400_1321-7399insTAAATAAATAAATAAACAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50610642	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp2 HG02027.hp2 others(3): Show HG00738.hp1 HG01952.hp2 HG02027.hp2 HG02896.hp1 HG03130.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0003t0051	a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0006g0032 others(3): Show a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0006g0032 a0001c0002t0001g0105 a0001c0002t0005g0103 a0001c0003t0051g0034	6	116	0.0517	20	c.132 others(39): Show c.1320+9360_1320+9379dupATATATATATATATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50658411	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG00738.hp2 others(20): Show HG00609.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01952.hp1 HG02300.hp2 HG02683.hp1 HG02717.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03942.hp1 NA18950.hp1 NA18975.hp1 NA19012.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0003c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0039 a0001c0001t0053 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0033 a0001c0002t0034 a0001c0002t0065 a0001c0004t0007 a0001c0004t0038 a0001c0005t0030 a0001c0010t0063 a0003c0007t0060 a0005c0009t0004	a0001c0001t0001g0036 a0001c0001t0002g0047 a0001c0001t0003g0026 others(20): Show a0001c0001t0001g0036 a0001c0001t0002g0047 a0001c0001t0003g0026 a0001c0001t0004g0011 a0001c0001t0028g0008 a0001c0001t0029g0018 a0001c0001t0032g0007 a0001c0001t0039g0044 a0001c0001t0053g0052 a0001c0002t0001g0104 a0001c0002t0003g0079 a0001c0002t0005g0103 a0001c0002t0008g0078 a0001c0002t0033g0097 a0001c0002t0034g0098 a0001c0002t0065g0116 a0001c0004t0007g0090 a0001c0004t0007g0093 a0001c0004t0038g0085 a0001c0005t0030g0016 a0001c0010t0063g0059 a0003c0007t0060g0113 a0005c0009t0004g0013	23	116	0.1983	20	c.833 others(39): Show c.833-34816_833-34797dupACACACACACACACACACAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0050 a0001c0001t0037g0050	1	116	0.0086	20	c.833 others(39): Show c.833-60032_833-60031insATATTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03540.hp2 HG01433.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0046 a0001c0001t0042 a0001c0001t0046	a0001c0001t0042g0045 a0001c0001t0046g0039 a0001c0001t0042g0045 a0001c0001t0046g0039	2	116	0.0172	20	c.833 others(39): Show c.833-60032_833-60031insATATATTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0043 a0001c0001t0052g0043	1	116	0.0086	20	c.833 others(39): Show c.833-60032_833-60031insATATATATTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0021 a0001c0001t0016g0021	1	116	0.0086	20	c.833 others(39): Show c.833-60032_833-60031insATATATATATTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50865580	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	116	0.0086	20	c.832 others(39): Show c.832+56269_832+56288dupCACACACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50978271	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18941.hp2 HG02132.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0037 a0001c0001t0006 a0001c0001t0037	a0001c0001t0006g0054 a0001c0001t0037g0050 a0001c0001t0006g0054 a0001c0001t0037g0050	2	116	0.0172	20	c.772 others(39): Show c.772+49211_772+49230dupATATATATATATATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	2/22			chr2	TogoVar
NRXN2_chr11_64601174_64728197	64704623	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	308	0.0033	20	c.731 others(37): Show c.731-6851_731-6832dupCTCTCTCTCTCTCTCTCTCT	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	78235004	A A	ATATATAT others(13): Show ATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0002 a0002c0005t0005g0002	1	24	0.0417	20	c.-70 others(39): Show c.-703-7370_-703-7369insGTGTATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78456799	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	24	0.0417	20	c.757 others(41): Show c.757+158977_757+158996dupCTTTCTTTCTTTCTTTCTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78660253	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	24	0.0417	20	c.122 others(39): Show c.1221+8931_1221+8950dupATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79227739	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0011 a0001c0002t0015g0011	1	24	0.0417	20	c.326 others(43): Show c.3263-239454_3263-239435dupTTCCTTCCTTCCTTCCTTCC	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79227824	T T	TCCTCCCT others(13): Show TCCTCCCTTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0024 a0001c0003t0009g0024	1	24	0.0417	20	c.326 others(43): Show c.3263-239382_3263-239381insTCCTCCCTCCCTTCCTCCCT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79316729	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	20	c.326 others(43): Show c.3263-150477_3263-150458dupCTCTCTCTCTCTCTCTCTCT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79358607	G G	GAAAGAGA others(13): Show GAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	24	0.0417	20	c.326 others(43): Show c.3263-108613_3263-108612insAAGAGAAAGAAAGAAAGAAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79504637	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19043.hp2 HG01081.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0005 a0002c0005t0005 a0001c0004t0005 a0002c0005t0005	a0001c0004t0005g0003 a0002c0005t0005g0002 a0001c0004t0005g0003 a0002c0005t0005g0002	2	24	0.0833	20	c.344 others(41): Show c.3444+37236_3444+37237insATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0014 a0001c0010t0001 a0001c0001t0014 a0001c0010t0001	a0001c0001t0014g0004 a0001c0010t0001g0012 a0001c0001t0014g0004 a0001c0010t0001g0012	2	24	0.0833	20	c.344 others(41): Show c.3444+41004_3444+41005insTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79719402	G G	GTATATAT others(13): Show GTATATATATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02257.hp2 others(3): Show HG01109.hp1 HG01243.hp1 HG02257.hp2 HG02922.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0009	a0001c0001t0003 a0001c0001t0014 a0001c0003t0012 others(3): Show a0001c0001t0003 a0001c0001t0014 a0001c0003t0012 a0001c0006t0017 a0001c0008t0004 a0001c0009t0003	a0001c0001t0003g0013 a0001c0001t0014g0004 a0001c0003t0012g0019 others(3): Show a0001c0001t0003g0013 a0001c0001t0014g0004 a0001c0003t0012g0019 a0001c0006t0017g0001 a0001c0008t0004g0014 a0001c0009t0003g0017	6	24	0.2500	20	c.401 others(41): Show c.4014+21474_4014+21475insGTGTGTGTGTATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSA2_chr5_74762249_74785113	74784510	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	402	0.0025	20	c.78 others(31): Show c.7839_*7840insAAAAAAAAAAAAAAAAAAAA	NSA2	ENSG00000164346.10	transcript	ENST00000610426.5	protein_coding		4398		chr5	TogoVar
NSD1_chr5_177128773_177305213	177199579	A A	ATTTTCTT others(13): Show ATTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02717.hp1 others(4): Show HG01884.hp2 HG01891.hp1 HG02717.hp1 HG03453.hp1 HG03491.hp2 HG04115.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0006 a0001c0005 a0003c0006	a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 others(4): Show a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0057 a0001c0005t0058 a0003c0006t0009 a0003c0006t0071	a0001c0005t0002g0015 a0001c0005t0005g0017 a0001c0005t0006g0298 others(4): Show a0001c0005t0002g0015 a0001c0005t0005g0017 a0001c0005t0006g0298 a0001c0005t0057g0020 a0001c0005t0058g0024 a0003c0006t0009g0164 a0003c0006t0071g0159	7	298	0.0235	20	c.106 others(39): Show c.1064-4526_1064-4507dupCTTTTCTTTTCTTTTCTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177207593	A A	ATTTATTT others(13): Show ATTTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0125 a0001c0003t0007g0125	1	298	0.0034	20	c.123 others(39): Show c.1237-2040_1237-2039insATTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177207593	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0077 a0001c0003t0007 a0001c0003t0077	a0001c0003t0007g0134 a0001c0003t0077g0108 a0001c0003t0007g0134 a0001c0003t0077g0108	2	298	0.0067	20	c.123 others(39): Show c.1237-2033_1237-2014dupTTTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177242514	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02145.hp1 HG02976.hp2 others(4): Show HG00609.hp2 HG02145.hp1 HG02976.hp2 HG03098.hp2 HG03579.hp1 HG04115.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0033 a0005c0007 a0001c0001 a0001c0033 a0005c0007	a0001c0001t0006 a0001c0001t0044 a0001c0001t0059 others(2): Show a0001c0001t0006 a0001c0001t0044 a0001c0001t0059 a0001c0033t0037 a0005c0007t0015	a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0044g0253 others(4): Show a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0044g0253 a0001c0001t0059g0218 a0001c0033t0037g0262 a0005c0007t0015g0004 a0005c0007t0015g0005	7	298	0.0235	20	c.430 others(39): Show c.4303-1670_4303-1651dupATTTATTTATTTATTTATTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr5	TogoVar

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