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 limited to 10,000 hits. Refine your search for more specific results.

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
NUGGC_chr8_28016964_28088936	28054768	GCACTGTG others(6): Show GCACTGTGGTGCTT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0059 a0003c0002t0059	a0003c0002t0059g0305 a0003c0002t0059g0305	1	406	0.0025	-13	c.120 others(32): Show c.1206+1184_1206+1196delAAGCACCACAGTG	NUGGC	ENSG00000189233.12	transcript	ENST00000413272.7	protein_coding	10/18			chr8	TogoVar
NUMA1_chr11_71997864_72085542	72016975	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(147): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19064.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(15): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0003 a0001c0007 others(25): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0022 a0001c0028 a0001c0029 a0001c0035 a0004c0009 a0004c0016 a0005c0011 a0006c0012 a0007c0014 a0008c0015 a0009c0034 a0010c0032 a0012c0021 a0013c0023 a0014c0027 a0016c0025 a0017c0026 a0018c0024 a0019c0030 a0020c0031 a0021c0033 a0022c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0010t0004 a0001c0013t0001 a0001c0022t0004 a0001c0028t0001 a0001c0029t0001 a0001c0035t0001 a0004c0009t0001 a0004c0016t0001 a0005c0011t0001 a0006c0012t0004 a0007c0014t0001 a0008c0015t0001 a0009c0034t0001 a0010c0032t0001 a0012c0021t0004 a0013c0023t0001 a0014c0027t0001 a0016c0025t0001 a0017c0026t0001 a0018c0024t0001 a0019c0030t0001 a0020c0031t0001 a0021c0033t0001 a0022c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(146): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0004g0138 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0007t0001g0160 a0001c0007t0001g0164 a0001c0007t0001g0168 a0001c0007t0001g0170 a0001c0007t0001g0174 a0001c0008t0001g0078 a0001c0008t0001g0114 a0001c0008t0001g0131 a0001c0008t0001g0205 a0001c0008t0001g0214 a0001c0010t0001g0132 a0001c0010t0001g0137 a0001c0010t0004g0133 a0001c0013t0001g0219 a0001c0013t0001g0237 a0001c0022t0004g0135 a0001c0028t0001g0106 a0001c0029t0001g0187 a0001c0035t0001g0128 a0004c0009t0001g0122 a0004c0009t0001g0207 a0004c0009t0001g0210 a0004c0009t0001g0234 a0004c0016t0001g0208 a0005c0011t0001g0162 a0005c0011t0001g0167 a0005c0011t0001g0179 a0006c0012t0004g0136 a0006c0012t0004g0151 a0006c0012t0004g0152 a0007c0014t0001g0209 a0008c0015t0001g0229 a0009c0034t0001g0227 a0010c0032t0001g0113 a0012c0021t0004g0134 a0013c0023t0001g0102 a0014c0027t0001g0159 a0016c0025t0001g0204 a0017c0026t0001g0197 a0018c0024t0001g0211 a0019c0030t0001g0226 a0020c0031t0001g0161 a0021c0033t0001g0172 a0022c0036t0001g0220	150	244	0.6148	-13	c.112 others(30): Show c.1120-458_1120-446delAAAAAAAAAAAAA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	13/26			chr11	TogoVar
NUMBL_chr19_40660905_40695651	40675142	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02615.hp2 others(5): Show HG02109.hp2 HG02258.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG03195.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0007 a0001c0001t0003g0277 a0001c0001t0015g0244 a0001c0001t0003g0007 a0001c0001t0003g0277 a0001c0001t0015g0244	8	414	0.0193	-13	c.731 others(30): Show c.731-1506_731-1494delTTTTTTTTTTTTT	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	7/9			chr19	TogoVar
NUMB_chr14_73270216_73463546	73279060	TCTGTTCC others(6): Show TCTGTTCCACAGTC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	322	0.0031	-13	c.124 others(30): Show c.1240+208_1240+220delGACTGTGGAACAG	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	12/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73286190	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	322	0.0031	-13	c.655 others(28): Show c.655+907_655+919delAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	9/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352511	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	322	0.0031	-13	c.126 others(30): Show c.126+3102_126+3114delTATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352517	TATATATA others(6): Show TATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02895.hp2 HG03540.hp2 others(1): Show HG01074.hp1 HG02895.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0002 a0001c0001t0003g0082 a0001c0002t0003g0246 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0082 a0001c0002t0003g0246 a0001c0002t0003g0248	4	322	0.0124	-13	c.126 others(30): Show c.126+3096_126+3108delCATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	322	0.0031	-13	c.126 others(30): Show c.126+2541_126+2553delAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73386867	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18972.hp1 NA18989.hp2 HG02145.hp2 NA18972.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0059 a0001c0001t0003g0083 a0001c0001t0003g0041 a0001c0001t0003g0059 a0001c0001t0003g0083	3	322	0.0093	-13	c.-10 others(34): Show c.-100-19899_-100-19887delAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73395036	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp2 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0287 a0001c0001t0001g0298	2	322	0.0062	-13	c.-10 others(34): Show c.-101+14888_-101+14900delCACACACACACAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229483696	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02809.hp1 others(6): Show HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03540.hp2 HG06807.hp1	a0005 a0008 a0005 a0008	a0005c0006 a0008c0013 a0005c0006 a0008c0013	a0005c0006t0001 a0005c0006t0017 a0008c0013t0003 a0005c0006t0001 a0005c0006t0017 a0008c0013t0003	a0005c0006t0001g0010 a0005c0006t0001g0012 a0005c0006t0001g0013 others(6): Show a0005c0006t0001g0010 a0005c0006t0001g0012 a0005c0006t0001g0013 a0005c0006t0001g0014 a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0018 a0005c0006t0017g0017 a0008c0013t0003g0011	9	276	0.0326	-13	c.159 others(30): Show c.1592+345_1592+357delTTTTTTTTTTTTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	12/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47782298	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	338	0.0030	-13	c.401 others(30): Show c.4014+762_4014+774delATATATATTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782300	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	338	0.0030	-13	c.401 others(30): Show c.4014+760_4014+772delATATATATATTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01070.hp1 others(9): Show HG00323.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01496.hp1 HG02004.hp2 HG02109.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03710.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0184 a0001c0001t0001g0230 a0001c0001t0001g0231 others(9): Show a0001c0001t0001g0184 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0312 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0116 a0002c0002t0001g0217 a0002c0002t0001g0218	12	338	0.0355	-13	c.401 others(30): Show c.4014+756_4014+768delATATATATATATA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP188_chr9_128942699_129012096	128988719	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG02109.hp2 others(10): Show HG01099.hp1 HG01109.hp1 HG02109.hp2 HG02258.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 NA19043.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0004 a0001c0028 others(1): Show a0001c0002 a0001c0004 a0001c0028 a0011c0024	a0001c0002t0001 a0001c0004t0001 a0001c0028t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0028t0001 a0011c0024t0001	a0001c0002t0001g0176 a0001c0002t0001g0240 a0001c0002t0001g0254 others(10): Show a0001c0002t0001g0176 a0001c0002t0001g0240 a0001c0002t0001g0254 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0253 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0028t0001g0259 a0011c0024t0001g0252	13	296	0.0439	-13	c.253 others(30): Show c.2533+548_2533+560delTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	24/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP210L_chr1_153987690_154160073	154022470	AGTAAGTA others(6): Show AGTAAGTAAGTATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	290	0.0035	-13	c.429 others(30): Show c.4299-140_4299-128delCATACTTACTTAC	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	31/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13418948	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18984.hp1 NA18962.hp2 NA18984.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0165 a0004c0004t0003g0166 a0004c0004t0003g0165 a0004c0004t0003g0166	2	326	0.0061	-13	c.167 others(30): Show c.167+1099_167+1111delTTTTTTTTTTTTT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	1/39			chr3	TogoVar
NUP214_chr9_131120586_131239663	131139255	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp1 NA19000.hp1 HG01981.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0162 a0002c0002t0001g0163	2	234	0.0086	-13	c.100 others(27): Show c.1006-15_1006-3delTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183138267	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	402	0.0025	-13	c.397 others(30): Show c.397+4646_397+4658delATTTTTTTTTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183145544	CACATGTA others(6): Show CACATGTACCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	402	0.0025	-13	c.398 others(30): Show c.398-5959_398-5947delGTACCCCATACAT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP37_chr12_102068103_102125114	102091399	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	398	0.0025	-13	c.450 others(30): Show c.450-5556_450-5544delTTTTTTTTTTTTT	NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding	5/9			chr12	TogoVar
NUP50_chr22_45158925_45193017	45191637	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02630.hp2 others(10): Show HG01891.hp1 HG02486.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03540.hp2 NA18955.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0034 a0001c0001t0050 a0001c0001t0056 a0001c0002t0014 a0001c0002t0017 a0001c0002t0035	a0001c0001t0003g0082 a0001c0001t0004g0106 a0001c0001t0014g0262 others(10): Show a0001c0001t0003g0082 a0001c0001t0004g0106 a0001c0001t0014g0262 a0001c0001t0014g0265 a0001c0001t0014g0269 a0001c0001t0017g0266 a0001c0001t0017g0267 a0001c0001t0034g0261 a0001c0001t0050g0252 a0001c0001t0056g0251 a0001c0002t0014g0264 a0001c0002t0017g0268 a0001c0002t0035g0263	13	432	0.0301	-13	c.69 others(24): Show c.6983_*6995delTTTTTTTTTTTTT	NUP50	ENSG00000093000.19	transcript	ENST00000347635.9	protein_coding		3621		chr22	TogoVar
NUP54_chr4_76109664_76153397	76129966	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0308 a0001c0004t0004g0308	1	370	0.0027	-13	c.105 others(30): Show c.1056+677_1056+689delAAAAAAAAAAAAA	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP58_chr13_25296625_25347421	25305130	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG02451.hp1 others(5): Show HG00738.hp1 HG01109.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp1 HG02723.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	8	350	0.0229	-13	c.108 others(30): Show c.108-2657_108-2645delTTTTTTTTTTTTT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP58_chr13_25296625_25347421	25310206	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0073 a0001c0012t0001g0073	1	350	0.0029	-13	c.286 others(28): Show c.286+942_286+954delTTTTTTTTTTTTT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62CL_chrX_107118427_107211433	107189863	AAGGAAAA others(6): Show AAGGAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	280	0.0036	-13	c.-48 others(30): Show c.-48+3153_-48+3165delCTTTCTTTTTCCT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar
NUP62_chr19_49901825_49934504	49914726	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19081.hp2 HG00597.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0080 a0002c0002t0001g0190 a0001c0001t0002g0080 a0002c0002t0001g0190	2	416	0.0048	-13	c.-77 others(30): Show c.-77-4855_-77-4843delAAAAAAAAAAAAA	NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding	2/2			chr19	TogoVar
NUP88_chr17_5379833_5424662	5416144	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	370	0.0027	-13	c.467 others(28): Show c.467+356_467+368delTTTTTTTTTTTTT	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16			chr17	TogoVar
NUP93_chr16_56725129_56855286	56794927	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0189 a0001c0005t0007g0189	1	378	0.0027	-13	c.298 others(30): Show c.298-3529_298-3517delAAAAAAAAAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808724	TAAATACA others(6): Show TAAATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0063 a0007c0020t0001g0063	1	378	0.0027	-13	c.489 others(30): Show c.489+3108_489+3120delATACATATATAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3684766	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02083.hp2 HG02145.hp1 others(3): Show HG01884.hp1 HG02083.hp2 HG02145.hp1 NA18977.hp2 NA19086.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0001g0334	6	342	0.0175	-13	c.467 others(32): Show c.4676+1194_4676+1206delTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	29/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3689940	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	342	0.0029	-13	c.445 others(32): Show c.4454+1394_4454+1406delAAAAAAAAAAAAA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	28/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702322	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00423.hp2 HG00544.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0213 a0004c0007t0001g0245 a0004c0007t0001g0213 a0004c0007t0001g0245	2	342	0.0059	-13	c.351 others(30): Show c.3512+128_3512+140delAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702324	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG03490.hp2 others(1): Show HG01361.hp2 HG01884.hp2 HG03490.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0306 a0001c0002t0001g0206 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0306 a0001c0002t0001g0206 a0001c0006t0001g0203	4	342	0.0117	-13	c.351 others(30): Show c.3512+126_3512+138delAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702326	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19077.hp2 NA19087.hp2 HG00609.hp2 NA19077.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0186 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0186	3	342	0.0088	-13	c.351 others(30): Show c.3512+124_3512+136delAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702328	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	342	0.0029	-13	c.351 others(30): Show c.3512+122_3512+134delAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3744353	GGATCTAT others(6): Show GGATCTATTAATAA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02165.hp1 NA18965.hp2 others(5): Show HG02015.hp2 HG02165.hp1 NA18965.hp2 NA18966.hp2 NA18973.hp2 NA18983.hp2 NA18984.hp2 NA19082.hp1	a0001 a0021 a0001 a0021	a0001c0002 a0021c0018 a0001c0002 a0021c0018	a0001c0002t0001 a0001c0002t0007 a0021c0018t0001 a0001c0002t0001 a0001c0002t0007 a0021c0018t0001	a0001c0002t0001g0069 a0001c0002t0001g0093 a0001c0002t0001g0095 others(5): Show a0001c0002t0001g0069 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0007g0132 a0021c0018t0001g0099	8	342	0.0234	-13	c.140 others(30): Show c.1408+143_1408+155delTTATTAATAGATC	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	12/32			chr11	TogoVar
NUSAP1_chr15_41327881_41386046	41346826	CAAAAATA others(6): Show CAAAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01981.hp1 others(9): Show HG00099.hp1 HG00609.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02896.hp1 HG02897.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA19085.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0243 a0002c0002t0001g0244 others(9): Show a0002c0002t0001g0010 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0282	12	292	0.0411	-13	c.163 others(30): Show c.163-2271_163-2259delAAAAATAAATAAA	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	2/10			chr15	TogoVar
NUTM2A_chr10_87220448_87239978	87230845	GCCAGGTG others(6): Show GCCAGGTGTTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0010 a0001c0040t0010	a0001c0040t0010g0054 a0001c0040t0010g0055 a0001c0040t0010g0054 a0001c0040t0010g0055	2	403	0.0050	-13	c.108 others(28): Show c.1083-67_1083-55delTTGGGACCAGGTG	NUTM2A	ENSG00000184923.12	transcript	ENST00000381707.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUTM2E_chr10_79821739_79855878	79827783	GGTTTTTT others(6): Show GGTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03239.hp2 HG01361.hp1 HG03239.hp2	a0021 a0022 a0021 a0022	a0021c0038 a0022c0039 a0021c0038 a0022c0039	a0021c0038t0021 a0022c0039t0021 a0021c0038t0021 a0022c0039t0021	a0021c0038t0021g0173 a0022c0039t0021g0172 a0021c0038t0021g0173 a0022c0039t0021g0172	2	412	0.0049	-13	c.-27 others(32): Show c.-2728+427_-2728+439delGTTTTTTTTTTGT	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding	1/9			chr10	TogoVar
NUTM2E_chr10_79821739_79855878	79827796	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0194 a0002c0003t0003g0194	1	412	0.0024	-13	c.-27 others(32): Show c.-2728+449_-2728+461delTTTGTTTTTTTTT	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUTM2E_chr10_79821739_79855878	79849120	GTGTCTGT others(6): Show GTGTCTGTGTCTTT	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	412	0.0024	-13	c.173 others(30): Show c.1734+227_1735-237delGTCTGTGTCTTTT	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
NVL_chr1_224222345_224335172	224237961	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0002c0004 a0003c0006 a0004c0009 a0005c0011 a0006c0013 a0008c0008	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0007t0001 a0001c0012t0001 a0002c0004t0001 a0003c0006t0001 a0004c0009t0001 a0005c0011t0001 a0006c0013t0002 a0008c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 others(191): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0005g0062 a0001c0002t0001g0015 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0007g0276 a0001c0003t0002g0233 a0001c0003t0002g0237 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0005t0001g0153 a0001c0005t0001g0185 a0001c0005t0001g0196 a0001c0007t0001g0070 a0001c0007t0001g0087 a0001c0012t0001g0017 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0129 a0002c0004t0001g0137 a0003c0006t0001g0074 a0003c0006t0001g0089 a0004c0009t0001g0051 a0005c0011t0001g0228 a0006c0013t0002g0244 a0008c0008t0001g0079	194	284	0.6831	-13	c.229 others(32): Show c.2290-1392_2290-1380delTTTTTTTTTTTTT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	19/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16759003	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0002 a0014c0025t0002	a0014c0025t0002g0049 a0014c0025t0002g0049	1	300	0.0033	-13	c.177 others(30): Show c.1770-206_1770-194delAAAAAAAAAAAAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16767167	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18993.hp1 NA19009.hp1 others(1): Show HG01496.hp1 NA18993.hp1 NA19009.hp1 NA21309.hp1	a0001 a0022 a0034 a0001 a0022 a0034	a0001c0022 a0022c0042 a0034c0051 a0001c0022 a0022c0042 a0034c0051	a0001c0022t0001 a0001c0022t0002 a0022c0042t0001 others(1): Show a0001c0022t0001 a0001c0022t0002 a0022c0042t0001 a0034c0051t0002	a0001c0022t0001g0151 a0001c0022t0002g0102 a0022c0042t0001g0152 others(1): Show a0001c0022t0001g0151 a0001c0022t0002g0102 a0022c0042t0001g0152 a0034c0051t0002g0028	4	300	0.0133	-13	c.241 others(32): Show c.2410+1990_2410+2002delTTTTTTTTTTTTT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16767982	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0137 a0002c0001t0001g0137	1	300	0.0033	-13	c.241 others(32): Show c.2410+2803_2410+2815delTTTTTTTTTTTTT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37421348	ACTCTGTT others(6): Show ACTCTGTTATGCAG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19054.hp2 NA18980.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0013 a0001c0001t0005g0270 a0001c0001t0002g0013 a0001c0001t0005g0270	2	296	0.0068	-13	c.358 others(30): Show c.358-9219_358-9207delGTTATGCAGCTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37423736	CAGAAATA others(6): Show CAGAAATAATGTTA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19065.hp2 HG02015.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0008 a0001c0007t0008 a0001c0002t0008 a0001c0007t0008	a0001c0002t0008g0259 a0001c0007t0008g0269 a0001c0002t0008g0259 a0001c0007t0008g0269	2	296	0.0068	-13	c.358 others(30): Show c.358-6833_358-6821delAAATAATGTTAAG	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF1_chr11_62787130_62810440	62795339	GGTAGTGC others(6): Show GGTAGTGCGCACCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	406	0.0025	-13	c.150 others(30): Show c.1505-345_1505-333delAGGTGCGCACTAC	NXF1	ENSG00000162231.14	transcript	ENST00000294172.7	protein_coding	17/20			chr11	TogoVar
NXF2B_chrX_102355395_102445008	102393572	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	54	0.0185	-13	c.-53 others(32): Show c.-53-13496_-53-13484delATATATATATATA	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar

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