Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
NET1_chr10_5407557_5464056	5435502	TAGATAGA others(33): Show TAGATAGATAGATAGATAGATAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp1 HG02148.hp2 others(2): Show HG00609.hp2 HG02056.hp1 HG02148.hp2 HG03654.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0235 a0002c0002t0005g0303 a0002c0002t0005g0304 others(2): Show a0002c0002t0005g0235 a0002c0002t0005g0303 a0002c0002t0005g0304 a0002c0002t0005g0308 a0002c0002t0005g0309	5	380	0.0132	-40	c.255 others(57): Show c.255+6295_255+6334delGATAGATAGACAGACAGACAGATAGATA GATAGATAGATA	NET1	ENSG00000173848.19	transcript	ENST00000355029.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
NEU1_chr6_31852659_31867821	31854551	AGGCTCCT others(33): Show AGGCTCCTCACTTCTCAGACGGGGCAGTTGCCGGGCGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00733.hp1 others(99): Show HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18949.hp1 NA18956.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 a0001c0001t0001 a0001c0001t0011 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0011g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0011g0012 a0001c0001t0018g0024	102	419	0.2434	-40	c.51 others(51): Show c.5128_*5167delCCTCCGCCCGGCAACTGCCCCGTCTGAGAAGTGA GGAGCC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3107		chr6	TogoVar
NEU4_chr2_241804193_241822413	241805252	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG03669.hp1 HG02132.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0018 a0001c0002t0001g0002 a0001c0001t0005g0018 a0001c0002t0001g0002	2	319	0.0063	-40	c.-40 others(51): Show c.-4025_-3986delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3940		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805330	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	319	0.0031	-40	c.-39 others(51): Show c.-3947_-3908delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3862		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807378	TCCCCCCT others(33): Show TCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02630.hp2 HG03669.hp1 others(4): Show HG00735.hp2 HG02630.hp2 HG03669.hp1 HG03942.hp2 NA18947.hp2 NA18971.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0001c0001t0001 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0021 a0001c0002t0001g0002 a0001c0002t0001g0004 others(3): Show a0001c0001t0001g0021 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0017 a0001c0002t0001g0087 a0002c0003t0002g0150	7	319	0.0219	-40	c.-18 others(51): Show c.-1899_-1860delCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1814		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807697	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	319	0.0031	-40	c.-15 others(51): Show c.-1580_-1541delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1495		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807736	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	319	0.0031	-40	c.-15 others(51): Show c.-1541_-1502delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1456		chr2	TogoVar
NEU4_chr2_241804193_241822413	241812055	TGACCCCA others(33): Show TGACCCCAGAGGGTGTGCGCGGACCCCAGAGGGTGTGCGTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0165 a0002c0003t0002g0165	1	319	0.0031	-40	c.-3- others(55): Show c.-3-2410_-3-2371delCGCGGACCCCAGAGGGTGTGCGTGGACCCC AGAGGGTGTG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEXN_chr1_77883624_77948895	77883868	ATGGCCAG others(33): Show ATGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	268	0.0037	-40	c.-49 others(51): Show c.-4943_-4904delTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGT GATCTG	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		4755		chr1	TogoVar
NEXN_chr1_77883624_77948895	77883955	ATGTCTGG others(33): Show ATGTCTGGCCTATAATTTCATTTTTTAAATGTTTACTTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	268	0.0037	-40	c.-48 others(51): Show c.-4856_-4817delTGTCTGGCCTATAATTTCATTTTTTAAATGTTTA CTTTGT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		4668		chr1	TogoVar
NFASC_chr1_204823652_205027822	204843598	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp1 HG03098.hp2 HG01243.hp1 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0004t0041 a0001c0005t0007 a0001c0001t0004 a0001c0004t0041 a0001c0005t0007	a0001c0001t0004g0064 a0001c0004t0041g0065 a0001c0005t0007g0066 a0001c0001t0004g0064 a0001c0004t0041g0065 a0001c0005t0007g0066	3	226	0.0133	-40	c.-20 others(61): Show c.-200+14820_-200+14859delTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204877028	AATATATA others(33): Show AATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp1 HG01952.hp2 others(3): Show HG00673.hp1 HG01928.hp1 HG01952.hp2 HG02004.hp1 HG02559.hp2 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0036 others(1): Show a0001c0001 a0001c0004 a0001c0036 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0001c0004t0038 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0038 a0001c0036t0044 a0002c0003t0009	a0001c0001t0001g0084 a0001c0004t0001g0076 a0001c0004t0001g0083 others(3): Show a0001c0001t0001g0084 a0001c0004t0001g0076 a0001c0004t0001g0083 a0001c0004t0038g0096 a0001c0036t0044g0220 a0002c0003t0009g0051	6	226	0.0266	-40	c.-19 others(61): Show c.-199-43603_-199-43564delATATATATTTATATATATATAATA TATTTATTTATATATT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29			chr1	TogoVar
NFASC_chr1_204865862_205027822	204877028	AATATATA others(33): Show AATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01928.hp1 HG02004.hp1 others(2): Show HG00673.hp2 HG01928.hp1 HG02004.hp1 HG02559.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0002t0001 a0001c0002t0039 others(1): Show a0001c0001t0023 a0001c0002t0001 a0001c0002t0039 a0001c0002t0047	a0001c0001t0023g0143 a0001c0002t0001g0161 a0001c0002t0001g0163 others(2): Show a0001c0001t0023g0143 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0039g0162 a0001c0002t0047g0164	5	264	0.0189	-40	c.-91 others(57): Show c.-91+5959_-91+5998delATATATATTTATATATATATAATATATT TATTTATATATT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27			chr1	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02257.hp2 HG02486.hp2 others(3): Show HG00609.hp2 HG02257.hp2 HG02486.hp2 HG02896.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0046 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0046 a0001c0001t0047	a0001c0001t0001g0145 a0001c0001t0016g0362 a0001c0001t0016g0364 others(3): Show a0001c0001t0001g0145 a0001c0001t0016g0362 a0001c0001t0016g0364 a0001c0001t0016g0365 a0001c0001t0046g0363 a0001c0001t0047g0086	6	380	0.0158	-40	c.253 others(55): Show c.253+816_253+855delATATATATATATATATATATATATATATAT ATATATATAT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79474806	GACGTAAA others(33): Show GACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	322	0.0031	-40	c.209 others(59): Show c.2092+7258_2092+7297delGCTGTCAACGTAAACCTGAGGGAAGC GTGTTCTCACGCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79475003	GCTGTCGA others(33): Show GCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0213 a0002c0003t0001g0213	1	322	0.0031	-40	c.209 others(59): Show c.2092+7432_2092+7471delAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTCGACGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79479335	GCCCCCTC others(33): Show GCCCCCTCCACGGGCGACAGCGTGAACTGGGCCTGTGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG02451.hp2 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0008 a0005c0031 a0001c0008 a0005c0031	a0001c0008t0005 a0005c0031t0004 a0001c0008t0005 a0005c0031t0004	a0001c0008t0005g0288 a0005c0031t0004g0011 a0001c0008t0005g0288 a0005c0031t0004g0011	2	322	0.0062	-40	c.209 others(59): Show c.2093-6899_2093-6860delCGACAGCGTGAACTGGGCCTGTGCGG CCCCCCTCCACGGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79530072	CGTGGGGT others(33): Show CGTGGGGTGGCGTGAGGAGAGCACAGAGGCCGGCGTTTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0026 a0007c0033t0026	a0007c0033t0026g0101 a0007c0033t0026g0101	1	322	0.0031	-40	c.24 others(51): Show c.2496_*2535delGTGGGGTGGCGTGAGGAGAGCACAGAGGCCGGCG TTTGGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		750		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	TCGGCAGA others(33): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0258	1	322	0.0031	-40	c.46 others(51): Show c.4612_*4651delCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532217	CCCCCCGC others(33): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0007 a0001c0028t0007	a0001c0028t0007g0127 a0001c0028t0007g0127	1	322	0.0031	-40	c.46 others(51): Show c.4641_*4680delCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2895		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532228	CCGGCAGA others(33): Show CCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02080.hp2 HG03195.hp1 others(1): Show HG01975.hp2 HG02080.hp2 HG03195.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0001c0027 others(1): Show a0001c0001 a0001c0013 a0001c0027 a0002c0011	a0001c0001t0001 a0001c0013t0005 a0001c0027t0008 others(1): Show a0001c0001t0001 a0001c0013t0005 a0001c0027t0008 a0002c0011t0026	a0001c0001t0001g0274 a0001c0013t0005g0310 a0001c0027t0008g0013 others(1): Show a0001c0001t0001g0274 a0001c0013t0005g0310 a0001c0027t0008g0013 a0002c0011t0026g0281	4	322	0.0124	-40	c.46 others(51): Show c.4652_*4691delCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2906		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532257	TCCCCCGC others(33): Show TCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0003 a0001c0053t0003	a0001c0053t0003g0180 a0001c0053t0003g0180	1	322	0.0031	-40	c.46 others(51): Show c.4681_*4720delCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCC TGCAGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2935		chr18	TogoVar
NFATC2_chr20_51381963_51547719	51396038	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	316	0.0032	-40	c.44 others(57): Show c.44+2565_*44+2604delTATATATATATATATATATATATATATA TATATATATATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFIA_chr1_61077561_61467788	61200010	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG03453.hp1 others(2): Show HG02451.hp2 HG02886.hp1 HG03453.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0001t0032 a0001c0002t0040 others(2): Show a0001c0001t0009 a0001c0001t0032 a0001c0002t0040 a0001c0002t0060 a0001c0003t0001	a0001c0001t0009g0134 a0001c0001t0032g0138 a0001c0002t0040g0131 others(2): Show a0001c0001t0009g0134 a0001c0001t0032g0138 a0001c0002t0040g0131 a0001c0002t0060g0132 a0001c0003t0001g0097	5	156	0.0321	-40	c.560 others(59): Show c.560-77492_560-77453delATATATATATATATATATATATATAT ATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14123806	GTTGCCCC others(33): Show GTTGCCCCTCTTCCTCCTAGTTTGCCCCTCTGCCTCCCACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0092 a0001c0001t0024g0092	1	304	0.0033	-40	c.106 others(59): Show c.1060+1786_1060+1825delTGTGGGAGGCAGAGGGGCAAACTAGG AGGAAGAGGGGCAA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	7/10			chr9	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(132): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0006g0173 a0001c0003t0001g0107 a0001c0003t0001g0111 a0001c0003t0001g0143 a0001c0003t0001g0145 a0001c0004t0001g0020 a0002c0005t0001g0146	135	264	0.5114	-40	c.492 others(57): Show c.492+3166_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHSL1_chr6_138417043_138504494	138437369	TATACACA others(33): Show TATACACATATATATATACACATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0139 a0001c0007t0020g0148 a0001c0007t0020g0139 a0001c0007t0020g0148	2	332	0.0060	-40	c.665 others(57): Show c.665-3729_665-3690delGTGTGTATATATATATATATGTGTATAT ATATATGTGTAT	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	5/7			chr6	TogoVar
NIBAN2_chr9_127500343_127574073	127523190	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0146 a0001c0001t0008g0146	1	332	0.0030	-40	c.589 others(55): Show c.589+449_589+488delATATATATATATATATATATATATATATAT ATATATATTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIM1K_chr5_43187225_43285850	43198179	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03540.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 others(2): Show a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0006g0135	5	292	0.0171	-40	c.-69 others(59): Show c.-695+5770_-695+5809delTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198185	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp2 HG02257.hp2 others(8): Show HG00621.hp2 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 HG03579.hp2 NA18963.hp1 NA19007.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0005t0002	a0001c0001t0001g0084 a0001c0001t0001g0228 a0001c0001t0002g0261 others(8): Show a0001c0001t0001g0084 a0001c0001t0001g0228 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0003t0002g0278 a0001c0005t0002g0260 a0001c0005t0002g0263	11	292	0.0377	-40	c.-69 others(59): Show c.-695+5776_-695+5815delCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTCT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198189	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	292	0.0034	-40	c.-69 others(59): Show c.-695+5780_-695+5819delCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	582724	CGCAGGCA others(33): Show CGCAGGCAGGCATGCTAGAGTGAATGAATGAATGGACGCAG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp2 HG02074.hp2 others(12): Show HG00673.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 NA18943.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18988.hp1 NA19004.hp1 NA19012.hp2 NA19057.hp1 NA19085.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0141 a0001c0001t0001g0142 others(12): Show a0001c0001t0001g0069 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0185 a0003c0002t0001g0163	15	404	0.0371	-40	c.34- others(57): Show c.34-16586_34-16547delCTGCGTCCATTCATTCATTCACTCTAGC ATGCCTGCCTGC	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	583142	TGTGAATG others(33): Show TGTGAATGAATGAATGGGTGCAGGCAGGCAGGCATGCTAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(76): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03927.hp2 HG04184.hp1 NA18949.hp1 NA18950.hp1 NA18965.hp1 NA18967.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0005 a0001c0001 a0001c0007 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0063 others(76): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0380 a0001c0001t0001g0389 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0401 a0001c0001t0002g0056 a0001c0001t0002g0120 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0007t0002g0178 a0005c0005t0001g0199	79	404	0.1955	-40	c.34- others(57): Show c.34-17004_34-16965delTCTAGCATGCCTGCCTGCCTGCACCCAT TCATTCATTCAC	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPAL2_chr8_98184826_98299235	98244285	AGGTAGTC others(33): Show AGGTAGTCTGTAATGATGAGAGGGTGGGCGTGGTGATGAGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02155.hp2 HG02257.hp2 others(6): Show HG02004.hp1 HG02155.hp2 HG02257.hp2 HG02965.hp1 HG03486.hp1 HG03516.hp2 NA19062.hp1 NA19064.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0002t0001	a0001c0001t0002g0285 a0001c0001t0003g0118 a0001c0001t0004g0284 others(6): Show a0001c0001t0002g0285 a0001c0001t0003g0118 a0001c0001t0004g0284 a0001c0001t0009g0031 a0001c0001t0009g0032 a0001c0001t0009g0034 a0001c0001t0009g0156 a0001c0001t0023g0286 a0001c0002t0001g0256	9	332	0.0271	-40	c.377 others(57): Show c.377-8111_377-8072delCCTCATCACCACGCCCACCCTCTCATCA TTACAGACTACC	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	3/10			chr8	TogoVar
NIPSNAP3A_chr9_104742683_104765120	104755484	TTGAGGTA others(33): Show TTGAGGTAAATTTATATATGGATATAAATTTATTTAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	446	0.0022	-40	c.580 others(55): Show c.580+785_580+824delTGAGGTAAATTTATATATGGATATAAATTT ATTTAATAAA	NIPSNAP3A	ENSG00000136783.10	transcript	ENST00000374767.5	protein_coding	4/5			chr9	TogoVar
NKAIN2_chr6_123798865_124830640	124028887	GTATATAT others(33): Show GTATATATATATATATACACATATATGTATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03486.hp2 others(1): Show HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0002t0013g0058	4	66	0.0606	-40	c.54+ others(59): Show c.54+224648_54+224687delTACACATATATGTATATATATGTGTA TATATATATATATA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124078307	CAAAGATT others(33): Show CAAAGATTTACTGTGCAGTAGTGGAAGTTAAATCTATTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0020	1	66	0.0152	-40	c.55- others(59): Show c.55-204694_55-204655delGATTTACTGTGCAGTAGTGGAAGTTA AATCTATTTTTAAA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62500424	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0028 a0001c0001t0008 a0001c0001t0028	a0001c0001t0008g0097 a0001c0001t0028g0044 a0001c0001t0008g0097 a0001c0001t0028g0044	2	144	0.0139	-40	c.55- others(57): Show c.55-79091_55-79052delAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN4_chr20_63235784_63259463	63257462	GAGCGGAG others(33): Show GAGCGGAGGACAGTGATGGACAGCGGAGGACAGTGATGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01934.hp2 HG01106.hp1 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0098 a0003c0003t0002g0099	2	354	0.0057	-40	c.-30 others(51): Show c.-3052_-3013delGTCCATCACTGTCCTCCGCTGTCCATCACTGTCC TCCGCT	NKAIN4	ENSG00000101198.15	transcript	ENST00000370316.8	protein_coding		3000		chr20	TogoVar
NKD1_chr16_50543396_50654249	50589736	TCTCTTCT others(33): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0204 a0001c0001t0047g0204	1	212	0.0047	-40	c.193 others(59): Show c.193-18553_193-18514delTCTCTTCTCTTCTCTTCTCTTCTCTC CTCTCCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589741	TCTCTTCT others(33): Show TCTCTTCTCTTCTCTTCTCTTCTCTCCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp2 HG01993.hp2 others(1): Show HG01943.hp2 HG01975.hp2 HG01993.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0053	a0001c0001t0002g0163 a0001c0001t0005g0167 a0001c0001t0010g0175 others(1): Show a0001c0001t0002g0163 a0001c0001t0005g0167 a0001c0001t0010g0175 a0001c0001t0053g0160	4	212	0.0189	-40	c.193 others(59): Show c.193-18548_193-18509delTCTCTTCTCTTCTCTTCTCTCCTCTC CTCTCCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD2_chr5_1003802_1043943	1022377	TGTGGGTG others(33): Show TGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	319	0.0031	-40	c.142 others(57): Show c.142-9774_142-9735delGTGGGTGTCCCAGCCCGTTGTCCCTGCT CTTCCCACCCGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(33): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0123 a0001c0001t0012g0123	1	319	0.0031	-40	c.142 others(57): Show c.142-8663_142-8624delGTGGGCGTCTCAGCCCGTTGTCTCTGCT CTTCCCACCCTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023510	CTCTGCTC others(33): Show CTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	319	0.0031	-40	c.142 others(57): Show c.142-8641_142-8602delTCTGCTCTTCCCACCCTCTGTGGGCGTC TCAGCCCGTTGT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023570	TGTGGGCG others(33): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19011.hp2 NA19079.hp1 HG04184.hp1 NA19011.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0163	3	319	0.0094	-40	c.142 others(57): Show c.142-8581_142-8542delGTGGGCGTCCCAGCCCATTGTCCCTGCT CTTCCCACCCTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023734	TGTGGGCG others(33): Show TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG03834.hp1 HG00741.hp2 HG01106.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0006g0265 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0006g0265	3	319	0.0094	-40	c.142 others(57): Show c.142-8417_142-8378delGTGGGCGTCTCAGCCCATTGTCCCTGCT CTTCCCACTCTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024800	TGTGGGCG others(33): Show TGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01168.hp2 others(21): Show HG00408.hp1 HG01074.hp2 HG01168.hp2 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01978.hp1 HG02015.hp1 HG02132.hp1 HG02258.hp2 HG02622.hp1 HG02735.hp1 HG03239.hp2 NA18747.hp2 NA18951.hp2 NA18965.hp1 NA18965.hp2 NA18984.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0012 a0001c0001 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0010t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0002g0042 a0001c0001t0012g0119 a0001c0001t0012g0123 a0001c0010t0001g0187 a0001c0012t0001g0012	24	319	0.0752	-40	c.142 others(57): Show c.142-7351_142-7312delGTGGGCGTCCCAGCCCTTTGTCCCTGCT CTTCCCACTCTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1025087	TGTGGGCG others(33): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02015.hp1 HG03239.hp2 others(1): Show HG01074.hp2 HG02015.hp1 HG03239.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0221	4	319	0.0125	-40	c.142 others(57): Show c.142-7064_142-7025delGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKX6-3_chr8_41640177_41655817	41650988	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	434	0.0023	-40	c.-53 others(49): Show c.-536_-497delGCGCGCGCGCGCGCGCGCGCGCACACACACACACAC ACAC	NKX6-3	ENSG00000165066.13	transcript	ENST00000518699.4	protein_coding		172		chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6021037	TCTCTCTC others(33): Show TCTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG03239.hp2 HG01261.hp1 HG01433.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0002g0117 a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0002g0117	3	128	0.0234	-40	c.625 others(57): Show c.625+8203_625+8242delGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAGAGAGAG	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar

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