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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Results per page.

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
NUDT4_chr12_93372925_93413146	93375478	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01891.hp2 NA19077.hp2 others(1): Show HG00280.hp1 HG01891.hp2 NA19077.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0261 a0001c0001t0264 others(1): Show a0001c0001t0059 a0001c0001t0261 a0001c0001t0264 a0001c0001t0270	a0001c0001t0059g0078 a0001c0001t0261g0075 a0001c0001t0264g0063 others(1): Show a0001c0001t0059g0078 a0001c0001t0261g0075 a0001c0001t0264g0063 a0001c0001t0270g0056	4	414	0.0097	-22	c.-28 others(33): Show c.-2844_-2823delATATATAGAGAGAGAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2446		chr12	TogoVar
NUF2_chr1_163316954_163360759	163350409	CAGTTACT others(15): Show CAGTTACTAACAATTTAGTAACT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	400	0.0025	-22	c.126 others(41): Show c.1260+1340_1260+1361delAATTTAGTAACTAGTTACTAAC	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUMA1_chr11_71997864_72085542	72040445	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG03130.hp2 others(1): Show HG02809.hp2 HG02970.hp1 HG03130.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0037 a0001c0005 a0003c0037	a0001c0005t0001 a0003c0037t0001 a0001c0005t0001 a0003c0037t0001	a0001c0005t0001g0147 a0001c0005t0001g0155 a0001c0005t0001g0156 others(1): Show a0001c0005t0001g0147 a0001c0005t0001g0155 a0001c0005t0001g0156 a0003c0037t0001g0092	4	244	0.0164	-22	c.-32 others(39): Show c.-32-4492_-32-4471delGTGTGTGTGTGTGTGTGTGTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72040491	CACACACA others(15): Show CACACACACACACACACACACTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	244	0.0041	-22	c.-32 others(39): Show c.-32-4538_-32-4517delCAGTGTGTGTGTGTGTGTGTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73352437	CACACACA others(15): Show CACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03017.hp1 NA19009.hp2 HG00099.hp2 HG03017.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0058	3	322	0.0093	-22	c.126 others(39): Show c.126+3167_126+3188delATGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352457	CATACACA others(15): Show CATACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	322	0.0031	-22	c.126 others(39): Show c.126+3147_126+3168delATGTGTGTGTGTGTGTGTGTAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(15): Show CACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp2 HG02056.hp1 others(5): Show HG00597.hp2 HG01261.hp2 HG02056.hp1 HG02148.hp1 HG02300.hp2 HG02735.hp1 NA19043.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0029 a0001c0001t0002g0148 a0001c0001t0002g0166 others(5): Show a0001c0001t0001g0029 a0001c0001t0002g0148 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0209 a0001c0001t0002g0237 a0001c0001t0002g0260 a0001c0002t0003g0152	8	322	0.0248	-22	c.126 others(39): Show c.126+3131_126+3152delATATATATATATATATATGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352475	CACATATA others(15): Show CACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01934.hp1 others(13): Show HG00639.hp1 HG01256.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18995.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0001c0001t0001 a0001c0001t0002 a0001c0003t0005	a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0002g0145 others(13): Show a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0254 a0001c0003t0005g0020	16	322	0.0497	-22	c.126 others(39): Show c.126+3129_126+3150delATATATATATATATATATATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352477	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	322	0.0031	-22	c.126 others(39): Show c.126+3127_126+3148delATATATATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73395037	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02717.hp2 others(3): Show HG01243.hp1 HG02451.hp1 HG02717.hp2 HG02809.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018	6	322	0.0186	-22	c.-10 others(43): Show c.-101+14878_-101+14899delCACACACACACACACACACACA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73440196	CATATATA others(15): Show CATATATATATATGGATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00639.hp1 others(39): Show HG00438.hp2 HG00544.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02132.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19012.hp2 NA19030.hp1 NA19079.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0005 a0001c0001t0001 a0001c0001t0007 a0001c0003t0005	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(39): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0007g0280 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026	42	322	0.1304	-22	c.-23 others(43): Show c.-233+18275_-233+18296delATGGATATCCATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229435461	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(45): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG03139.hp1 HG03225.hp2 HG03491.hp2 HG03669.hp2 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18954.hp1 NA18967.hp2 NA18968.hp1 NA18977.hp2 NA18980.hp2 NA18989.hp2 NA18998.hp1 NA19054.hp1 NA19060.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0014	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0002c0002t0011 a0002c0002t0012 a0003c0003t0002 a0003c0003t0006 a0010c0014t0002	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0070 others(44): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0008g0107 a0002c0002t0002g0007 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0264 a0002c0002t0011g0249 a0002c0002t0012g0233 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0006g0124 a0003c0003t0006g0125 a0003c0003t0006g0126 a0003c0003t0006g0127 a0003c0003t0006g0128 a0003c0003t0006g0129 a0003c0003t0006g0130 a0003c0003t0006g0131 a0010c0014t0002g0250	48	276	0.1739	-22	c.64 others(33): Show c.6421_*6442delAGAGAGAGAGAGAGAGAGAGAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4797		chr1	TogoVar
NUP153_chr6_17610037_17711925	17693183	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02970.hp2 HG01255.hp1 HG02970.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0008 a0002c0010t0003g0009 a0002c0010t0003g0008 a0002c0010t0003g0009	2	316	0.0063	-22	c.112 others(39): Show c.112-4587_112-4566delGTGTGTGTGTGTGTGTGTGTGT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP160_chr11_47773118_47853350	47782303	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(69): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01943.hp2 HG01978.hp1 HG02071.hp2 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19058.hp2 NA19063.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0002c0014 a0004c0007 a0009c0011	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0014t0001 a0004c0007t0001 a0009c0011t0001	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 others(69): Show a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0005t0001g0049 a0001c0005t0001g0122 a0001c0005t0001g0124 a0001c0005t0001g0127 a0001c0005t0001g0225 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0014t0001g0047 a0004c0007t0001g0043 a0004c0007t0001g0110 a0009c0011t0001g0176	72	338	0.2130	-22	c.401 others(39): Show c.4014+748_4014+769delATATATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47806790	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 NA18959.hp2 HG02630.hp2 HG02717.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0264 a0001c0001t0001g0326 a0001c0001t0001g0185 a0001c0001t0001g0264 a0001c0001t0001g0326	3	338	0.0089	-22	c.234 others(39): Show c.2344+258_2344+279delGTGTGTGTGTGTGTGTGTGTGT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	19/35			chr11	TogoVar
NUP205_chr7_135552917_135653753	135567124	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp2 HG03654.hp2 others(1): Show HG00733.hp1 HG01496.hp2 HG03654.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0011t0001g0126 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0011t0001g0126 a0001c0011t0001g0132	4	352	0.0114	-22	c.29- others(37): Show c.29-3979_29-3958delGTGTATATATATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210_chr3_13311235_13425322	13350457	CAAAACAA others(15): Show CAAAACAAAACAAAACAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(44): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01517.hp2 HG01993.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp2 NA18946.hp2 NA18956.hp1 NA18962.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0005 a0006 a0009 others(1): Show a0005 a0006 a0009 a0023	a0005c0003 a0006c0007 a0006c0010 others(3): Show a0005c0003 a0006c0007 a0006c0010 a0009c0027 a0009c0028 a0023c0026	a0005c0003t0001 a0006c0007t0001 a0006c0010t0001 others(3): Show a0005c0003t0001 a0006c0007t0001 a0006c0010t0001 a0009c0027t0003 a0009c0028t0003 a0023c0026t0011	a0005c0003t0001g0215 a0005c0003t0001g0216 a0005c0003t0001g0234 others(43): Show a0005c0003t0001g0215 a0005c0003t0001g0216 a0005c0003t0001g0234 a0005c0003t0001g0238 a0005c0003t0001g0241 a0005c0003t0001g0242 a0005c0003t0001g0245 a0005c0003t0001g0247 a0005c0003t0001g0256 a0005c0003t0001g0268 a0005c0003t0001g0281 a0005c0003t0001g0291 a0005c0003t0001g0292 a0005c0003t0001g0293 a0005c0003t0001g0294 a0005c0003t0001g0295 a0005c0003t0001g0296 a0005c0003t0001g0297 a0005c0003t0001g0298 a0005c0003t0001g0299 a0005c0003t0001g0300 a0005c0003t0001g0301 a0005c0003t0001g0302 a0005c0003t0001g0303 a0005c0003t0001g0304 a0005c0003t0001g0306 a0005c0003t0001g0313 a0005c0003t0001g0317 a0005c0003t0001g0319 a0006c0007t0001g0002 a0006c0007t0001g0010 a0006c0007t0001g0011 a0006c0007t0001g0012 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0015 a0006c0007t0001g0017 a0006c0007t0001g0018 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0305 a0006c0010t0001g0016 a0006c0010t0001g0020 a0009c0027t0003g0019 a0009c0028t0003g0034 a0023c0026t0011g0290	47	326	0.1442	-22	c.283 others(41): Show c.2835+1400_2835+1421delTTGTTTTGTTTTGTTTTGTTTT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	20/39			chr3	TogoVar
NUP210_chr3_13311235_13425322	13377931	CAGGCCCT others(15): Show CAGGCCCTACACCACCCACCTGG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	326	0.0031	-22	c.104 others(39): Show c.1046-391_1046-370delCCAGGTGGGTGGTGTAGGGCCT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39			chr3	TogoVar
NUP35_chr2_183119443_183166680	183158207	CCTATTTT others(15): Show CCTATTTTCTAGTAGAATTCATT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	402	0.0025	-22	c.610 others(35): Show c.610-75_610-54delCTATTTTCTAGTAGAATTCATT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	6/8			chr2	TogoVar
NUP58_chr13_25296625_25347421	25304478	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0288 a0001c0001t0018g0288	1	350	0.0029	-22	c.107 others(39): Show c.107+2616_107+2637delATATATATATATATATATATAT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP98_chr11_3670019_3802554	3702309	ACACACTC others(15): Show ACACACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	342	0.0029	-22	c.351 others(39): Show c.3512+132_3512+153delAGAGAGAGAGAGAGAGAGTGTG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702311	ACACTCTC others(15): Show ACACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0300 a0002c0005t0001g0300	1	342	0.0029	-22	c.351 others(39): Show c.3512+130_3512+151delAGAGAGAGAGAGAGAGAGAGTG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702313	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01169.hp2 others(4): Show HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp1 HG02896.hp1 HG03516.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0001 a0002c0005t0001 a0001c0006t0001 a0002c0005t0001	a0001c0006t0001g0126 a0001c0006t0001g0127 a0002c0005t0001g0299 others(4): Show a0001c0006t0001g0126 a0001c0006t0001g0127 a0002c0005t0001g0299 a0002c0005t0001g0301 a0002c0005t0001g0302 a0002c0005t0001g0303 a0002c0005t0001g0304	7	342	0.0205	-22	c.351 others(39): Show c.3512+128_3512+149delAGAGAGAGAGAGAGAGAGAGAG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3771979	TTATTTAG others(15): Show TTATTTAGGAGGCTAAATACTTG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	342	0.0029	-22	c.604 others(35): Show c.604-73_604-52delCAAGTATTTAGCCTCCTAAATA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	6/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28537141	AAATGTAT others(15): Show AAATGTATGCACTAAAATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0248 a0001c0001t0248	a0001c0001t0248g0261 a0001c0001t0248g0261	1	368	0.0027	-22	c.52 others(31): Show c.520_*541delCATATATTTTAGTGCATACATT	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	856		chr16	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20129.hp2 HG03516.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0082 a0004c0004t0001g0053 a0004c0004t0001g0082	2	374	0.0054	-22	c.17- others(35): Show c.17-831_17-810delTTTTTTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NXF2B_chrX_102355395_102445008	102412566	AGGAAGAA others(15): Show AGGAAGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp1 NA18982.hp1 others(1): Show HG00642.hp1 HG01891.hp1 NA18982.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0046	4	54	0.0741	-22	c.-54 others(41): Show c.-54+25965_-54+25986delCTCTTCCTCTTCCTCTTCTTCC	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXF2_chrX_102242167_102331722	102274528	TCCTCTTC others(15): Show TCCTCTTCCTCTTCCTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	38	0.0263	-22	c.-54 others(41): Show c.-54+25972_-54+25993delCTCTTCCTCTTCCTCTTCTTCC	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
NXNL1_chr19_17450425_17465926	17463914	GAAGAAGA others(15): Show GAAGAAGAAAAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	408	0.0025	-22	c.-30 others(33): Show c.-3067_-3046delTTCTTCTTCTTCTTTTCTTCTT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2989		chr19	TogoVar
NXNL2_chr9_88530178_88549973	88547756	CCTATAAT others(15): Show CCTATAATCCCAGCACTTCCGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	336	0.0030	-22	c.32 others(33): Show c.3210_*3231delCTATAATCCCAGCACTTCCGGA	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		2784		chr9	TogoVar
NXN_chr17_794310_984776	878452	GGGGGTGG others(15): Show GGGGGTGGGGGGACCTTGAAGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	242	0.0041	-22	c.361 others(41): Show c.361-52396_361-52375delACCTTCAAGGTCCCCCCACCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	889739	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0001 a0001c0001t0007 a0001c0004t0001	a0001c0001t0007g0023 a0001c0004t0001g0235 a0001c0001t0007g0023 a0001c0004t0001g0235	2	242	0.0083	-22	c.361 others(41): Show c.361-63683_361-63662delTTCTTTCTTTCTTTCTTTCTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	894994	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	242	0.0041	-22	c.361 others(41): Show c.361-68938_361-68917delAAAAAAAAAAAAAAAAAAAAAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE1_chr11_114513934_114564881	114540837	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	360	0.0028	-22	c.100 others(39): Show c.100-9951_100-9930delAAAAAAAAAAAAAAAAAAAAAA	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	5/8			chr11	TogoVar
NXPE3_chr3_101774211_101833231	101808818	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	380	0.0026	-22	c.922 others(39): Show c.922+1709_922+1730delATATATATATATATATATATAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH1_chr7_8428609_8757961	8655396	GTCTTTCT others(15): Show GTCTTTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02559.hp2 HG02895.hp1 others(3): Show HG00642.hp1 HG02559.hp2 HG02895.hp1 HG03041.hp2 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0008g0075	6	208	0.0289	-22	c.55- others(39): Show c.55-95608_55-95587delTTCTCTCTCTCTCTCTCTCTCT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NYAP2_chr2_225394710_225708654	225611901	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02055.hp1 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0019 a0001c0003t0005g0190 a0001c0003t0003g0019 a0001c0003t0005g0190	2	192	0.0104	-22	c.161 others(43): Show c.1619-14999_1619-14978delACACACACACACACACACACAC	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225620416	TGCACGCA others(15): Show TGCACGCACACGCACGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(95): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18988.hp1 NA18992.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0003c0011 a0003c0016 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0032 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0023 a0001c0002t0024 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0003t0003 a0001c0003t0005 a0001c0004t0002 a0001c0004t0025 a0001c0004t0028 a0001c0004t0029 a0001c0006t0001 a0001c0009t0002 a0001c0015t0003 a0001c0017t0002 a0001c0018t0001 a0001c0019t0005 a0003c0011t0016 a0003c0016t0030 a0005c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0026 others(95): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0002g0004 a0001c0001t0009g0126 a0001c0001t0009g0128 a0001c0001t0017g0021 a0001c0001t0017g0107 a0001c0001t0018g0116 a0001c0001t0018g0117 a0001c0001t0021g0171 a0001c0001t0021g0172 a0001c0001t0032g0124 a0001c0001t0044g0174 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0002g0063 a0001c0002t0002g0130 a0001c0002t0004g0042 a0001c0002t0008g0012 a0001c0002t0008g0127 a0001c0002t0008g0182 a0001c0002t0008g0183 a0001c0002t0023g0189 a0001c0002t0024g0186 a0001c0002t0033g0184 a0001c0002t0035g0085 a0001c0002t0036g0113 a0001c0002t0037g0030 a0001c0002t0038g0103 a0001c0003t0003g0007 a0001c0003t0003g0013 a0001c0003t0003g0019 a0001c0003t0003g0033 a0001c0003t0005g0190 a0001c0004t0002g0001 a0001c0004t0002g0025 a0001c0004t0002g0132 a0001c0004t0002g0139 a0001c0004t0002g0140 a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0147 a0001c0004t0002g0148 a0001c0004t0002g0150 a0001c0004t0002g0155 a0001c0004t0002g0157 a0001c0004t0002g0158 a0001c0004t0002g0159 a0001c0004t0002g0160 a0001c0004t0002g0161 a0001c0004t0002g0163 a0001c0004t0002g0165 a0001c0004t0002g0166 a0001c0004t0025g0141 a0001c0004t0028g0162 a0001c0004t0029g0173 a0001c0006t0001g0119 a0001c0009t0002g0149 a0001c0009t0002g0151 a0001c0009t0002g0170 a0001c0015t0003g0037 a0001c0017t0002g0188 a0001c0018t0001g0125 a0001c0019t0005g0169 a0003c0011t0016g0167 a0003c0011t0016g0168 a0003c0016t0030g0003 a0005c0012t0001g0031	98	192	0.5104	-22	c.161 others(41): Show c.1619-6476_1619-6455delACGCACACGCACGCACACACGC	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OBI1_chr13_78609289_78664155	78613770	AGATCTGT others(15): Show AGATCTGTGGGAGACTGAGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG03927.hp1 HG00738.hp2 HG01192.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0023 a0001c0001t0002g0009 a0001c0001t0002g0023	3	296	0.0101	-22	c.17 others(33): Show c.1788_*1809delCCCACTCAGTCTCCCACAGATC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		518		chr13	TogoVar
OBP2B_chr9_133200279_133214250	133207665	ACTAACCC others(15): Show ACTAACCCTCGGCCTCCCCATCC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(25): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG01109.hp1 HG01884.hp1 HG02109.hp2 HG02615.hp1 HG02717.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG04199.hp1 HG04204.hp2 NA18952.hp2 NA18971.hp2 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18994.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0005c0007t0001g0026	28	447	0.0626	-22	c.278 others(37): Show c.278-351_278-330delGGATGGGGAGGCCGAGGGTTAG	OBP2B	ENSG00000171102.16	transcript	ENST00000372034.8	protein_coding	3/6			chr9	TogoVar
OBP2B_chr9_133200279_133214250	133207764	CTCCCCAT others(15): Show CTCCCCATCCTTAACCCTCAGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(24): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG01884.hp1 HG02486.hp2 HG02615.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18952.hp2 NA18971.hp2 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18994.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0033 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0005c0007t0001g0026	27	447	0.0604	-22	c.277 others(37): Show c.277+347_277+368delAGCTGAGGGTTAAGGATGGGGA	OBP2B	ENSG00000171102.16	transcript	ENST00000372034.8	protein_coding	3/6			chr9	TogoVar
OBSCN_chr1_228203044_228383876	228331407	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp2 HG01167.hp1 others(30): Show HG00438.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01346.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG02280.hp1 HG02559.hp2 HG02630.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03491.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18954.hp2 NA18986.hp1 NA18995.hp2 NA19000.hp1 NA19079.hp1 NA20300.hp2 NA20805.hp2	a0005 a0015 a0020 others(22): Show a0005 a0015 a0020 a0029 a0033 a0034 a0052 a0053 a0055 a0059 a0060 a0061 a0063 a0069 a0071 a0074 a0078 a0082 a0083 a0127 a0128 a0129 a0152 a0155 a0158	a0005c0005 a0015c0007 a0020c0021 others(22): Show a0005c0005 a0015c0007 a0020c0021 a0029c0200 a0033c0041 a0034c0039 a0052c0193 a0053c0202 a0055c0204 a0059c0192 a0060c0205 a0061c0181 a0063c0182 a0069c0207 a0071c0176 a0074c0173 a0078c0178 a0082c0179 a0083c0185 a0127c0075 a0128c0071 a0129c0074 a0152c0047 a0155c0149 a0158c0188	a0005c0005t0001 a0015c0007t0004 a0020c0021t0002 others(22): Show a0005c0005t0001 a0015c0007t0004 a0020c0021t0002 a0029c0200t0002 a0033c0041t0002 a0034c0039t0002 a0052c0193t0002 a0053c0202t0002 a0055c0204t0002 a0059c0192t0002 a0060c0205t0002 a0061c0181t0002 a0063c0182t0002 a0069c0207t0002 a0071c0176t0002 a0074c0173t0002 a0078c0178t0002 a0082c0179t0002 a0083c0185t0002 a0127c0075t0003 a0128c0071t0003 a0129c0074t0003 a0152c0047t0001 a0155c0149t0001 a0158c0188t0002	a0005c0005t0001g0021 a0005c0005t0001g0096 a0015c0007t0004g0006 others(28): Show a0005c0005t0001g0021 a0005c0005t0001g0096 a0015c0007t0004g0006 a0015c0007t0004g0117 a0015c0007t0004g0118 a0020c0021t0002g0025 a0020c0021t0002g0028 a0020c0021t0002g0092 a0029c0200t0002g0059 a0033c0041t0002g0002 a0034c0039t0002g0023 a0034c0039t0002g0094 a0052c0193t0002g0057 a0053c0202t0002g0055 a0055c0204t0002g0107 a0059c0192t0002g0103 a0060c0205t0002g0012 a0061c0181t0002g0241 a0063c0182t0002g0244 a0069c0207t0002g0058 a0071c0176t0002g0033 a0074c0173t0002g0068 a0078c0178t0002g0020 a0082c0179t0002g0091 a0083c0185t0002g0069 a0127c0075t0003g0311 a0128c0071t0003g0291 a0129c0074t0003g0292 a0152c0047t0001g0079 a0155c0149t0001g0177 a0158c0188t0002g0242	33	320	0.1031	-22	c.185 others(43): Show c.18524-1425_18524-1404delTATATATATATATATATATATA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OCA2_chr15_27749875_28104315	28004765	ACACACAC others(15): Show ACACACACACCCTCGCTGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0080 a0015c0037t0001g0080	1	110	0.0091	-22	c.104 others(42): Show c.1044+9989_1044+10010delAGTCACAGCGAGGGTGTGTGTG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	9/23			chr15	TogoVar
ODAD2_chr10_27807168_28004079	27943795	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	304	0.0033	-22	c.174 others(39): Show c.1743+405_1743+426delTTTTTTTTTTTTTTTTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	12/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425127	GTGTATAT others(15): Show GTGTATATGTGTATATGTACATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0362 a0002c0002t0001g0362	1	398	0.0025	-22	c.963 others(38): Show c.963+995_963+1016delTATGTACATATACACATATACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425135	GTGTATAT others(15): Show GTGTATATGTACATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	398	0.0025	-22	c.963 others(38): Show c.963+987_963+1008delTATATACATATGTACATATACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF2_chr9_128451006_128506292	128466998	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	346	0.0029	-22	c.499 others(39): Show c.499-2183_499-2162delAAAAAAAAAAAAAAAATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128467006	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	346	0.0029	-22	c.499 others(39): Show c.499-2175_499-2154delAAAAAAAATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128467010	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	346	0.0029	-22	c.499 others(39): Show c.499-2171_499-2150delAAAATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497436	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp1 HG02280.hp1 others(1): Show HG01099.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0227 a0002c0003t0001g0003 a0002c0003t0001g0191 a0001c0001t0001g0227 a0002c0003t0001g0003 a0002c0003t0001g0191	4	346	0.0116	-22	c.226 others(39): Show c.2262-975_2262-954delAAAAAAAAAATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar

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