Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUMA1_chr11_71997864_72085542	72074194	C C	CAAAACAA others(13): Show CAAAACAAAAACAAAGACAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): 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 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 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.hp1 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 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 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.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0003 a0001c0005 others(31): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0020 a0001c0022 a0001c0028 a0001c0029 a0001c0035 a0002c0002 a0003c0004 a0003c0037 a0004c0009 a0004c0016 a0005c0011 a0006c0012 a0007c0014 a0008c0015 a0009c0034 a0010c0032 a0012c0021 a0013c0023 a0014c0027 a0015c0018 a0016c0025 a0017c0026 a0018c0024 a0019c0030 a0020c0031 a0021c0033 a0022c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(36): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0010t0004 a0001c0013t0001 a0001c0020t0003 a0001c0022t0004 a0001c0028t0001 a0001c0029t0001 a0001c0035t0001 a0002c0002t0001 a0002c0002t0010 a0003c0004t0001 a0003c0004t0007 a0003c0037t0001 a0004c0009t0001 a0004c0016t0001 a0005c0011t0001 a0006c0012t0004 a0007c0014t0001 a0008c0015t0001 a0009c0034t0001 a0010c0032t0001 a0012c0021t0004 a0013c0023t0001 a0014c0027t0001 a0015c0018t0008 a0016c0025t0001 a0017c0026t0001 a0018c0024t0001 a0019c0030t0001 a0020c0031t0001 a0021c0033t0001 a0022c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(176): 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 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 a0001c0005t0001g0147 a0001c0005t0001g0153 a0001c0005t0001g0154 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0157 a0001c0007t0001g0160 a0001c0007t0001g0164 a0001c0007t0001g0168 a0001c0007t0001g0170 a0001c0007t0001g0174 a0001c0008t0001g0078 a0001c0008t0001g0114 a0001c0008t0001g0131 a0001c0008t0001g0205 a0001c0008t0001g0214 a0001c0010t0001g0132 a0001c0010t0001g0137 a0001c0010t0004g0133 a0001c0013t0001g0219 a0001c0013t0001g0237 a0001c0020t0003g0003 a0001c0022t0004g0135 a0001c0028t0001g0106 a0001c0029t0001g0187 a0001c0035t0001g0128 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0010g0082 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0007g0024 a0003c0004t0007g0025 a0003c0037t0001g0092 a0004c0009t0001g0122 a0004c0009t0001g0207 a0004c0009t0001g0210 a0004c0009t0001g0234 a0004c0016t0001g0208 a0005c0011t0001g0162 a0005c0011t0001g0167 a0005c0011t0001g0179 a0006c0012t0004g0136 a0006c0012t0004g0151 a0006c0012t0004g0152 a0007c0014t0001g0209 a0008c0015t0001g0229 a0009c0034t0001g0227 a0010c0032t0001g0113 a0012c0021t0004g0134 a0013c0023t0001g0102 a0014c0027t0001g0159 a0015c0018t0008g0130 a0016c0025t0001g0204 a0017c0026t0001g0197 a0018c0024t0001g0211 a0019c0030t0001g0226 a0020c0031t0001g0161 a0021c0033t0001g0172 a0022c0036t0001g0220	180	244	0.7377	20	c.-10 others(39): Show c.-102-4284_-102-4283insTTTGTCTTTGTTTTTGTTTT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	1/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72075034	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03130.hp2 others(2): Show HG02145.hp1 HG02723.hp2 HG03130.hp2 HG03516.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0037 a0001c0001 a0001c0005 a0003c0037	a0001c0001t0001 a0001c0005t0001 a0003c0037t0001 a0001c0001t0001 a0001c0005t0001 a0003c0037t0001	a0001c0001t0001g0091 a0001c0005t0001g0153 a0001c0005t0001g0154 others(2): Show a0001c0001t0001g0091 a0001c0005t0001g0153 a0001c0005t0001g0154 a0001c0005t0001g0155 a0003c0037t0001g0092	5	244	0.0205	20	c.-10 others(39): Show c.-102-5143_-102-5124dupATTTATTTATTTATTTATTT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	1/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73284830	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18995.hp1 NA19011.hp1 others(1): Show NA18969.hp1 NA18995.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306	4	322	0.0124	20	c.656 others(35): Show c.656-476_656-457dupTAAATAAATAAATAAATAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	9/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73286190	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	322	0.0031	20	c.655 others(35): Show c.655+900_655+919dupAAAAAAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	9/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294950	T T	TTAAAAAA others(13): Show TTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18995.hp1 NA18969.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0303 a0001c0001t0001g0305	2	322	0.0062	20	c.310 others(37): Show c.310-2077_310-2076insTTTTTTTTTTTTTTTTTTTA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73313668	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	322	0.0031	20	c.234 others(37): Show c.234+2721_234+2722insTTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73350070	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01361.hp2 HG03017.hp2 others(2): Show HG00544.hp1 HG01361.hp2 HG03017.hp2 HG04115.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0003t0005g0026	5	322	0.0155	20	c.126 others(37): Show c.126+5555_126+5556insGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73350074	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG03540.hp1 HG01884.hp2 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0005g0015 a0001c0001t0005g0256 a0001c0001t0001g0005 a0001c0001t0005g0015 a0001c0001t0005g0256	3	322	0.0093	20	c.126 others(37): Show c.126+5551_126+5552insGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG01891.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0081 a0001c0002t0003g0245 a0001c0001t0003g0081 a0001c0002t0003g0245	2	322	0.0062	20	c.126 others(37): Show c.126+2534_126+2553dupAAAAAAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18995.hp1 NA18969.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0303 a0001c0001t0001g0305	2	322	0.0062	20	c.-10 others(37): Show c.-100-387_-100-368dupCTCTCTCTCTCTCTCTCTCT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19088.hp2 HG02129.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0304 a0001c0001t0001g0130 a0001c0001t0001g0304	2	322	0.0062	20	c.-10 others(37): Show c.-100-368_-100-367insCTCTCTCTCTCTCTCTATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02818.hp2 HG03139.hp1 others(2): Show HG01496.hp2 HG02818.hp2 HG03139.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 others(2): Show a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319	5	322	0.0155	20	c.-10 others(37): Show c.-100-368_-100-367insCTCTCTCTCTCTCTATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20300.hp2 HG02572.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0311 a0001c0001t0001g0317	2	322	0.0062	20	c.-10 others(37): Show c.-100-368_-100-367insCTCTCTCTCTCTATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(13): Show TATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	322	0.0031	20	c.-10 others(37): Show c.-100-368_-100-367insCTCTCTCTCTATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(13): Show TATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03471.hp1 HG01074.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0308 a0001c0002t0003g0246 a0001c0001t0001g0308 a0001c0002t0003g0246	2	322	0.0062	20	c.-10 others(37): Show c.-100-368_-100-367insCTCTCTCTATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73367348	T T	TATATATA others(13): Show TATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	322	0.0031	20	c.-10 others(37): Show c.-100-368_-100-367insCTCTCTATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73372319	A A	ATATATAT others(13): Show ATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG04228.hp1 NA18995.hp1 others(2): Show HG02258.hp1 HG04228.hp1 NA18995.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0302 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0128 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306	5	322	0.0155	20	c.-10 others(39): Show c.-100-5339_-100-5338insAAAGGTTATATATATATATA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73389272	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	322	0.0031	20	c.-10 others(41): Show c.-101+20645_-101+20664dupTTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73395037	T T	TTATGTGT others(13): Show TTATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02886.hp1 HG00423.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0173 a0001c0001t0002g0160 a0001c0001t0002g0173	2	322	0.0062	20	c.-10 others(41): Show c.-101+14899_-101+14900insCACACACACACACACACATA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73395037	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	322	0.0031	20	c.-10 others(41): Show c.-101+14880_-101+14899dupCACACACACACACACACACA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73440189	A A	AGATATCC others(13): Show AGATATCCATATATATATATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp1 NA18963.hp1 others(1): Show HG02071.hp2 HG02129.hp1 NA18963.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0240 others(1): Show a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0240 a0001c0006t0002g0258	4	322	0.0124	20	c.-23 others(41): Show c.-233+18284_-233+18303dupCATATATATATATGGATATC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP107_chr12_68681978_68750809	68686348	C C	CCAGTCAC others(13): Show CCAGTCACTACTTTCAAACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	398	0.0025	20	c.-71 others(29): Show c.-718_-717insCAGTCACTACTTTCAAACTG	NUP107	ENSG00000111581.10	transcript	ENST00000229179.9	protein_coding		629		chr12	TogoVar
NUP133_chr1_229435259_229513341	229439650	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	276	0.0036	20	c.22 others(31): Show c.2253_*2254insTATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		608		chr1	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18747.hp1 HG03942.hp2 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0221 a0002c0002t0010g0225 a0002c0002t0002g0221 a0002c0002t0010g0225	2	276	0.0073	20	c.22 others(31): Show c.2231_*2232insAAAATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp2 HG02257.hp1 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0125 a0003c0003t0006g0126 a0003c0003t0006g0125 a0003c0003t0006g0126	2	276	0.0073	20	c.185 others(39): Show c.1852-1923_1852-1904dupATATATATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP153_chr6_17610037_17711925	17678352	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02572.hp2 NA21309.hp2 HG01257.hp2 HG02572.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0025 a0003c0004 a0003c0025	a0003c0004t0001 a0003c0025t0001 a0003c0004t0001 a0003c0025t0001	a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0025t0001g0300 a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0025t0001g0300	3	316	0.0095	20	c.335 others(37): Show c.335-2602_335-2583dupTTTTTTTTTTTTTTTTTTTT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	2/21			chr6	TogoVar
NUP153_chr6_17610037_17711925	17693183	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	316	0.0032	20	c.112 others(37): Show c.112-4585_112-4566dupGTGTGTGTGTGTGTGTGTGT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04184.hp2 NA18946.hp2 others(2): Show HG03654.hp1 HG04184.hp2 NA18946.hp2 NA19010.hp1 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0020 a0001c0001 a0004c0020	a0001c0001t0001 a0001c0001t0010 a0004c0020t0001 a0001c0001t0001 a0001c0001t0010 a0004c0020t0001	a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0010g0129 a0004c0020t0001g0297	5	300	0.0167	20	c.393 others(37): Show c.3930+304_3930+323dupTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP155_chr5_37283137_37376106	37296688	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp1 HG02258.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0007 a0001c0005t0009 a0001c0002t0007 a0001c0005t0009	a0001c0002t0007g0038 a0001c0005t0009g0063 a0001c0002t0007g0038 a0001c0005t0009g0063	2	300	0.0067	20	c.379 others(39): Show c.3793+2160_3793+2179dupATTTATTTATTTATTTATTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47831894	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0313 a0001c0001t0001g0120 a0001c0001t0001g0313	2	338	0.0059	20	c.999 others(37): Show c.999+3737_999+3756dupAAAAAAAAAAAAAAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	7/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47850823	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	338	0.0030	20	c.-25 others(31): Show c.-2506_-2505insATATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2474		chr11	TogoVar
NUP188_chr9_128942699_129012096	128961590	C C	CTATCTAG others(13): Show CTATCTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0247 a0001c0004t0001g0247	1	296	0.0034	20	c.585 others(37): Show c.585+2458_585+2459insTCTAGATAGATAGATAGATA	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	8/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02559.hp1 HG02647.hp1 others(6): Show HG01074.hp1 HG02559.hp1 HG02647.hp1 HG03225.hp1 NA18942.hp2 NA18986.hp2 NA19057.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0153 a0001c0001t0001g0264 a0001c0002t0001g0099	9	296	0.0304	20	c.196 others(37): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP210L_chr1_153987690_154160073	154032950	G G	GAAGAAAA others(13): Show GAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp1 NA19043.hp1 HG01243.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0095 a0002c0002t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0095 a0002c0002t0001g0052	3	290	0.0103	20	c.369 others(39): Show c.3697-2916_3697-2897dupTTCTTTTCTTTTCTTTTCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG01978.hp2 others(2): Show HG00140.hp2 HG01496.hp1 HG01978.hp2 HG02109.hp1 NA18747.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0003 a0004c0005 others(1): Show a0001c0001 a0001c0003 a0004c0005 a0011c0011	a0001c0001t0001 a0001c0003t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0004c0005t0001 a0011c0011t0001	a0001c0001t0001g0044 a0001c0001t0001g0256 a0001c0003t0001g0221 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0256 a0001c0003t0001g0221 a0004c0005t0001g0252 a0011c0011t0001g0248	5	290	0.0172	20	c.132 others(37): Show c.1326+681_1326+700dupCCTTCCTTCCTTCCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125672	A A	AGGAGGGA others(13): Show AGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	290	0.0035	20	c.132 others(37): Show c.1326+650_1326+651insCTCCCTCCCTCCCTCCCTCC	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0209 a0001c0004t0001g0209	1	234	0.0043	20	c.593 others(35): Show c.593-616_593-615insTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19081.hp1 HG04228.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0079 a0002c0003t0001g0019 a0002c0002t0001g0079 a0002c0003t0001g0019	2	234	0.0086	20	c.365 others(39): Show c.3659+1351_3659+1370dupTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCCCCC others(13): Show TCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0005 a0013c0023t0005	a0013c0023t0005g0003 a0013c0023t0005g0003	1	234	0.0043	20	c.372 others(37): Show c.3721+745_3721+746insCCCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCTCTC others(13): Show TCCCTCTCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	234	0.0043	20	c.372 others(37): Show c.3721+734_3721+735insTCTCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCGTCCC others(13): Show TCCGTCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19055.hp2 HG00597.hp1 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0150 a0002c0002t0008g0148 a0002c0002t0001g0150 a0002c0002t0008g0148	2	234	0.0086	20	c.372 others(37): Show c.3721+733_3721+734insGTCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131206148	C C	CTTTTTTC others(13): Show CTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0088 a0001c0007t0001g0088	1	234	0.0043	20	c.559 others(39): Show c.5592+4437_5592+4438insCTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131206148	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG00741.hp2 others(20): Show HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01175.hp1 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02965.hp1 HG03492.hp2 NA18522.hp1 NA18944.hp1 NA18968.hp2 NA19011.hp1 NA19011.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0005c0008 a0006c0012	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0005c0008t0001 a0006c0012t0001	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0039 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0174 a0002c0002t0001g0116 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0158 a0002c0002t0001g0167 a0002c0002t0001g0175 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0193 a0002c0002t0001g0226 a0002c0003t0001g0042 a0005c0008t0001g0021 a0005c0008t0001g0109 a0006c0012t0001g0005	23	234	0.0983	20	c.559 others(39): Show c.5592+4445_5592+4446insTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223723	A A	ATTTATTT others(13): Show ATTTATTTTTTTTTTTATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0228 a0001c0010t0003g0228	1	234	0.0043	20	c.590 others(37): Show c.5902+808_5902+809insATTTTTTTATTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(13): Show ATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0214 a0001c0010t0003g0214	1	234	0.0043	20	c.590 others(37): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	402	0.0025	20	c.397 others(37): Show c.397+4647_397+4648insATATATATATATATATTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP54_chr4_76109664_76153397	76125752	G G	GGGAGAGG others(13): Show GGGAGAGGGGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	370	0.0027	20	c.105 others(37): Show c.1057-997_1057-996insTCCCTCTCTCCCCCCTCTCC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125756	A A	AGGGGGAG others(13): Show AGGGGGAGAGAGGGAGAGAGT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	370	0.0027	20	c.105 others(39): Show c.1057-1001_1057-1000insACTCTCTCCCTCTCTCCCCC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125789	G G	GAGAGGGA others(13): Show GAGAGGGAGATAGGTGAGGGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	370	0.0027	20	c.105 others(39): Show c.1057-1034_1057-1033insTCCCTCACCTATCTCCCTCT	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107189813	A A	AGAAGGAG others(13): Show AGAAGGAGGGAAGGAGGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	280	0.0036	20	c.-48 others(37): Show c.-48+3215_-48+3216insCTTCCCTCCTTCCCTCCTTC	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar

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