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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
A1BG_chr19_58340183_58358492	58349732	AAGAAAAA others(16): Show AAGAAAAAAGAAGAAAGAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02717.hp1 others(2): Show HG02145.hp1 HG02615.hp1 HG02717.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0020 a0001c0001t0002g0086 a0001c0001t0018g0085 a0001c0001t0001g0020 a0001c0001t0002g0086 a0001c0001t0018g0085	5	386	0.0130	-23	c.119 others(40): Show c.1192+615_1192+637delCTCTTTTCTTTCTTCTTTTTTCT	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A2ML1_chr12_8817621_8881787	8845861	AAAATAAA others(16): Show AAAATAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(7): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01934.hp2 HG02572.hp1 HG02895.hp1 HG02895.hp2 NA20905.hp1	a0004 a0011 a0030 others(1): Show a0004 a0011 a0030 a0034	a0004c0029 a0004c0045 a0004c0053 others(3): Show a0004c0029 a0004c0045 a0004c0053 a0011c0016 a0030c0051 a0034c0052	a0004c0029t0004 a0004c0045t0004 a0004c0053t0004 others(3): Show a0004c0029t0004 a0004c0045t0004 a0004c0053t0004 a0011c0016t0006 a0030c0051t0005 a0034c0052t0005	a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0053t0004g0344 others(6): Show a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0053t0004g0344 a0011c0016t0006g0108 a0011c0016t0006g0341 a0011c0016t0006g0342 a0011c0016t0006g0343 a0030c0051t0005g0217 a0034c0052t0005g0360	10	368	0.0272	-23	c.153 others(40): Show c.1538-212_1538-190delTAAATAAAATAAAATAAAATAAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	13/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADAT_chr4_170055222_170094956	170070494	TCTGACTC others(16): Show TCTGACTCAGCAGTCAGCCTAATA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	378	0.0027	-23	c.720 others(36): Show c.720+70_720+92delTATTAGGCTGACTGCTGAGTCAG	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	6/12			chr4	TogoVar
AATK_chr17_81112295_81171221	81140833	CGTGGGGC others(16): Show CGTGGGGCCGTGAGCCGTGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01074.hp2 others(29): Show HG00621.hp2 HG00639.hp2 HG01074.hp2 HG02109.hp1 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03834.hp2 HG04199.hp1 NA18943.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18977.hp2 NA19002.hp1 NA19056.hp2 NA19066.hp1 NA19091.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0025	a0001c0001 a0001c0011 a0001c0066 others(13): Show a0001c0001 a0001c0011 a0001c0066 a0002c0064 a0003c0007 a0003c0027 a0004c0062 a0005c0006 a0006c0012 a0006c0069 a0007c0031 a0009c0019 a0009c0065 a0010c0014 a0010c0030 a0025c0070	a0001c0001t0001 a0001c0011t0001 a0001c0066t0001 others(13): Show a0001c0001t0001 a0001c0011t0001 a0001c0066t0001 a0002c0064t0001 a0003c0007t0001 a0003c0027t0001 a0004c0062t0001 a0005c0006t0003 a0006c0012t0001 a0006c0069t0001 a0007c0031t0001 a0009c0019t0004 a0009c0065t0004 a0010c0014t0001 a0010c0030t0001 a0025c0070t0004	a0001c0001t0001g0305 a0001c0011t0001g0267 a0001c0011t0001g0272 others(28): Show a0001c0001t0001g0305 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0001g0277 a0001c0066t0001g0188 a0002c0064t0001g0269 a0003c0007t0001g0235 a0003c0007t0001g0262 a0003c0007t0001g0268 a0003c0007t0001g0271 a0003c0007t0001g0276 a0003c0007t0001g0278 a0003c0007t0001g0280 a0003c0007t0001g0286 a0003c0007t0001g0311 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0027t0001g0281 a0003c0027t0001g0323 a0004c0062t0001g0200 a0005c0006t0003g0263 a0006c0012t0001g0146 a0006c0069t0001g0340 a0007c0031t0001g0261 a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0065t0004g0236 a0010c0014t0001g0020 a0010c0030t0001g0289 a0025c0070t0004g0183	32	368	0.0870	-23	c.56- others(38): Show c.56-6355_56-6333delAGCCCCACGGCTCACGGCCCCAC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211305	CATATATA others(16): Show CATATATATGATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp1 HG02922.hp1 others(12): Show HG00438.hp1 HG01433.hp1 HG02922.hp1 NA18956.hp1 NA18962.hp2 NA18981.hp2 NA19004.hp2 NA19060.hp1 NA19063.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp1 NA19089.hp2 NA20905.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0008 a0002c0002 a0003c0003 a0007c0008	a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 a0007c0008t0004	a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(12): Show a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0031 a0002c0002t0001g0047 a0002c0002t0001g0065 a0002c0002t0001g0100 a0002c0002t0001g0228 a0002c0002t0001g0279 a0002c0002t0005g0315 a0003c0003t0001g0013 a0003c0003t0001g0182 a0007c0008t0004g0196	15	348	0.0431	-23	c.100 others(42): Show c.1006+3376_1006+3398delATATATATATATATCATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48341812	GATATATA others(16): Show GATATATATATATATCTTTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(69): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04204.hp2 HG06807.hp2 NA18942.hp2 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19060.hp1 NA19074.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(40): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0020 a0021 a0023 a0024 a0028 a0030 a0032 a0034 a0049 a0052 a0053 a0054 a0055 a0056 a0060 a0061 a0062 a0063 a0064 a0066 a0068 a0069 a0070 a0071 a0073 a0081 a0084 a0085 a0086 a0087	a0001c0001 a0001c0010 a0002c0002 others(50): Show a0001c0001 a0001c0010 a0002c0002 a0002c0022 a0003c0003 a0003c0004 a0004c0008 a0004c0009 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0007c0101 a0008c0013 a0009c0012 a0009c0107 a0011c0017 a0012c0016 a0012c0045 a0014c0019 a0014c0047 a0015c0025 a0020c0034 a0020c0109 a0021c0028 a0023c0018 a0024c0027 a0028c0015 a0030c0042 a0032c0114 a0034c0105 a0049c0055 a0052c0052 a0053c0051 a0054c0048 a0055c0049 a0056c0050 a0060c0070 a0061c0074 a0062c0075 a0063c0071 a0064c0073 a0066c0062 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0073c0078 a0081c0086 a0084c0061 a0085c0060 a0086c0059 a0087c0039	a0001c0001t0001 a0001c0010t0002 a0002c0002t0004 others(57): Show a0001c0001t0001 a0001c0010t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0003c0003t0004 a0003c0004t0001 a0004c0008t0001 a0004c0008t0004 a0004c0009t0001 a0005c0005t0003 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0007c0101t0003 a0008c0013t0001 a0008c0013t0002 a0009c0012t0002 a0009c0107t0001 a0011c0017t0002 a0011c0017t0003 a0012c0016t0001 a0012c0045t0002 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0020c0034t0003 a0020c0109t0001 a0021c0028t0003 a0023c0018t0001 a0023c0018t0004 a0024c0027t0001 a0024c0027t0006 a0028c0015t0004 a0030c0042t0004 a0032c0114t0004 a0034c0105t0005 a0049c0055t0003 a0052c0052t0001 a0053c0051t0001 a0054c0048t0004 a0055c0049t0001 a0056c0050t0004 a0060c0070t0003 a0061c0074t0001 a0062c0075t0005 a0063c0071t0005 a0064c0073t0005 a0066c0062t0003 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0073c0078t0003 a0081c0086t0009 a0084c0061t0004 a0085c0060t0001 a0086c0059t0003 a0087c0039t0001	a0001c0001t0001g0081 a0001c0010t0002g0074 a0002c0002t0004g0106 others(69): Show a0001c0001t0001g0081 a0001c0010t0002g0074 a0002c0002t0004g0106 a0002c0022t0002g0124 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0009t0001g0116 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0137 a0006c0023t0003g0138 a0007c0101t0003g0139 a0008c0013t0001g0111 a0008c0013t0002g0088 a0009c0012t0002g0052 a0009c0012t0002g0072 a0009c0012t0002g0094 a0009c0107t0001g0112 a0011c0017t0002g0048 a0011c0017t0003g0067 a0012c0016t0001g0108 a0012c0045t0002g0075 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0020c0034t0003g0117 a0020c0109t0001g0120 a0021c0028t0003g0005 a0021c0028t0003g0011 a0023c0018t0001g0110 a0023c0018t0004g0091 a0024c0027t0001g0161 a0024c0027t0006g0162 a0028c0015t0004g0173 a0028c0015t0004g0176 a0030c0042t0004g0073 a0032c0114t0004g0082 a0034c0105t0005g0037 a0049c0055t0003g0125 a0052c0052t0001g0097 a0053c0051t0001g0026 a0054c0048t0004g0159 a0055c0049t0001g0086 a0056c0050t0004g0099 a0060c0070t0003g0014 a0061c0074t0001g0022 a0062c0075t0005g0023 a0063c0071t0005g0105 a0064c0073t0005g0047 a0066c0062t0003g0141 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0073c0078t0003g0170 a0081c0086t0009g0160 a0084c0061t0004g0013 a0085c0060t0001g0100 a0086c0059t0003g0172 a0087c0039t0001g0003	72	178	0.4045	-23	c.102 others(44): Show c.10204+3436_10204+3458delTATATCTTTCTGATATATATATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411064	TCTTTCTT others(16): Show TCTTTCTTTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19062.hp2 NA19091.hp2 others(1): Show HG01975.hp2 NA19062.hp2 NA19091.hp2 NA20805.hp2	a0010 a0012 a0016 others(1): Show a0010 a0012 a0016 a0018	a0010c0031 a0012c0043 a0016c0094 others(1): Show a0010c0031 a0012c0043 a0016c0094 a0018c0029	a0010c0031t0003 a0012c0043t0002 a0016c0094t0002 others(1): Show a0010c0031t0003 a0012c0043t0002 a0016c0094t0002 a0018c0029t0004	a0010c0031t0003g0118 a0012c0043t0002g0098 a0016c0094t0002g0078 others(1): Show a0010c0031t0003g0118 a0012c0043t0002g0098 a0016c0094t0002g0078 a0018c0029t0004g0070	4	178	0.0225	-23	c.122 others(42): Show c.12228+393_12228+415delTTTTTCTTTCTTTCTCTCCTTTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862639	CGGGCCGG others(16): Show CGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0066 a0004c0066	a0004c0066t0008 a0004c0066t0008	a0004c0066t0008g0007 a0004c0066t0008g0007	1	318	0.0031	-23	c.422 others(38): Show c.422-862_422-840delCCCGGCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862659	CGGGCCGG others(16): Show CGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0140 a0006c0012t0002g0140	1	318	0.0031	-23	c.422 others(38): Show c.422-882_422-860delCCCGGCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104893421	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01106.hp1 others(18): Show HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 HG01934.hp1 HG01993.hp1 HG02083.hp2 HG02155.hp2 HG02451.hp2 HG02738.hp1 HG02965.hp1 HG03831.hp2 HG03942.hp1 NA18944.hp1 NA18999.hp2 NA19001.hp1 NA19060.hp2 NA19068.hp2 NA19082.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0015 a0021	a0001c0001 a0001c0005 a0002c0011 others(11): Show a0001c0001 a0001c0005 a0002c0011 a0003c0002 a0004c0008 a0004c0096 a0005c0014 a0005c0084 a0007c0090 a0008c0047 a0009c0018 a0012c0065 a0015c0061 a0021c0060	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 a0001c0005t0001 a0001c0005t0002 a0002c0011t0004 a0003c0002t0003 a0004c0008t0001 a0004c0096t0007 a0005c0014t0005 a0005c0084t0014 a0007c0090t0007 a0008c0047t0002 a0009c0018t0003 a0009c0018t0004 a0012c0065t0007 a0015c0061t0001 a0021c0060t0001	a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 others(18): Show a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0054 a0001c0001t0043g0002 a0001c0005t0001g0050 a0001c0005t0002g0123 a0001c0005t0002g0129 a0002c0011t0004g0263 a0003c0002t0003g0127 a0004c0008t0001g0036 a0004c0096t0007g0020 a0005c0014t0005g0245 a0005c0084t0014g0215 a0007c0090t0007g0046 a0008c0047t0002g0244 a0009c0018t0003g0253 a0009c0018t0004g0292 a0012c0065t0007g0182 a0015c0061t0001g0080 a0021c0060t0001g0078	21	318	0.0660	-23	c.67- others(38): Show c.67-4249_67-4227delTTTTTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69303786	ATATATAT others(16): Show ATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0312 a0002c0001t0002g0312	1	350	0.0029	-23	c.930 others(38): Show c.930+860_931-881delGTATATATATATATATATATATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18964.hp1 NA18973.hp1 others(3): Show NA18953.hp2 NA18964.hp1 NA18973.hp1 NA19056.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0160 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0160 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0222 a0001c0001t0001g0237	6	274	0.0219	-23	c.150 others(38): Show c.1501+25_1501+47delAAAAAAAAAAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCB5_chr7_20610667_20762008	20681092	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02622.hp2 others(5): Show HG01109.hp2 HG02109.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp2 HG02970.hp2 HG03516.hp2 NA19002.hp2	a0002 a0006 a0007 others(3): Show a0002 a0006 a0007 a0010 a0011 a0034	a0002c0003 a0002c0014 a0006c0007 others(4): Show a0002c0003 a0002c0014 a0006c0007 a0007c0016 a0010c0031 a0011c0025 a0034c0105	a0002c0003t0009 a0002c0014t0011 a0006c0007t0001 others(5): Show a0002c0003t0009 a0002c0014t0011 a0006c0007t0001 a0007c0016t0001 a0007c0016t0003 a0010c0031t0009 a0011c0025t0001 a0034c0105t0001	a0002c0003t0009g0008 a0002c0014t0011g0007 a0006c0007t0001g0179 others(5): Show a0002c0003t0009g0008 a0002c0014t0011g0007 a0006c0007t0001g0179 a0007c0016t0001g0115 a0007c0016t0003g0010 a0010c0031t0009g0006 a0011c0025t0001g0094 a0034c0105t0001g0304	8	360	0.0222	-23	c.170 others(40): Show c.1708-412_1708-390delTTTCTTTCTTTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20717883	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02622.hp2 others(7): Show HG01243.hp2 HG02109.hp2 HG02622.hp2 HG02976.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0011 a0025 a0047 a0048 a0068 a0071	a0001c0001 a0002c0003 a0002c0048 others(7): Show a0001c0001 a0002c0003 a0002c0048 a0004c0008 a0011c0025 a0025c0030 a0047c0059 a0048c0078 a0068c0097 a0071c0044	a0001c0001t0001 a0002c0003t0003 a0002c0048t0012 others(7): Show a0001c0001t0001 a0002c0003t0003 a0002c0048t0012 a0004c0008t0005 a0011c0025t0001 a0025c0030t0005 a0047c0059t0003 a0048c0078t0004 a0068c0097t0004 a0071c0044t0001	a0001c0001t0001g0346 a0002c0003t0003g0005 a0002c0048t0012g0060 others(7): Show a0001c0001t0001g0346 a0002c0003t0003g0005 a0002c0048t0012g0060 a0004c0008t0005g0341 a0011c0025t0001g0094 a0025c0030t0005g0159 a0047c0059t0003g0012 a0048c0078t0004g0342 a0068c0097t0004g0098 a0071c0044t0001g0130	10	360	0.0278	-23	c.242 others(42): Show c.2422-5119_2422-5097delTTTTTTTTTTTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43424622	CCTCCCTC others(16): Show CCTCCCTCTCCCTCTCCCCACGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(278): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0011 a0013	a0000c0019 a0001c0001 a0001c0002 others(15): Show a0000c0019 a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0014 a0001c0015 a0001c0022 a0002c0003 a0002c0007 a0002c0017 a0003c0006 a0005c0008 a0006c0021 a0007c0016 a0009c0018 a0011c0020 a0013c0023	a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 others(17): Show a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0001c0012t0001 a0001c0014t0001 a0001c0015t0001 a0001c0022t0001 a0002c0003t0001 a0002c0003t0005 a0002c0007t0002 a0002c0017t0001 a0003c0006t0002 a0005c0008t0001 a0006c0021t0001 a0007c0016t0001 a0009c0018t0001 a0011c0020t0001 a0013c0023t0001	a0000c0019t0004g0092 a0001c0001t0001g0001 a0001c0001t0001g0005 others(188): Show a0000c0019t0004g0092 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0209 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0043 a0001c0002t0001g0072 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0009t0001g0003 a0001c0012t0001g0005 a0001c0014t0001g0052 a0001c0015t0001g0160 a0001c0022t0001g0184 a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0001g0024 a0002c0003t0001g0036 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0060 a0002c0003t0001g0082 a0002c0003t0001g0096 a0002c0003t0001g0100 a0002c0003t0001g0107 a0002c0003t0001g0115 a0002c0003t0001g0142 a0002c0003t0001g0157 a0002c0003t0001g0167 a0002c0003t0001g0171 a0002c0003t0001g0186 a0002c0003t0001g0193 a0002c0003t0005g0111 a0002c0007t0002g0112 a0002c0007t0002g0113 a0002c0007t0002g0118 a0002c0007t0002g0119 a0002c0017t0001g0087 a0003c0006t0002g0012 a0003c0006t0002g0081 a0003c0006t0002g0095 a0005c0008t0001g0020 a0005c0008t0001g0035 a0006c0021t0001g0201 a0007c0016t0001g0079 a0009c0018t0001g0007 a0011c0020t0001g0077 a0013c0023t0001g0152	281	342	0.8216	-23	c.-31 others(34): Show c.-3146_-3124delCTCCCTCTCCCTCTCCCCACGGT	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		2918		chr6	TogoVar
ABCC1_chr16_15944616_16148053	15962252	TTTAAATT others(16): Show TTTAAATTTTAAACATCTTTGGAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0140 a0001c0002t0008g0140	1	249	0.0040	-23	c.48+ others(40): Show c.48+12457_48+12479delAATTTTAAACATCTTTGGACTTA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16053774	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0073 a0001c0006t0002g0073	1	249	0.0040	-23	c.147 others(40): Show c.1473+976_1473+998delAAAAAAAAAAAAAAAAAAAAAAA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC3_chr17_50629881_50697253	50673980	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG02135.hp1 others(6): Show HG00558.hp2 HG01099.hp2 HG02135.hp1 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG03098.hp2 NA20129.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0005c0008 a0009c0019	a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0005c0008t0001 a0009c0019t0001	a0001c0001t0003g0314 a0001c0003t0001g0153 a0001c0003t0001g0158 others(6): Show a0001c0001t0003g0314 a0001c0003t0001g0153 a0001c0003t0001g0158 a0001c0003t0001g0176 a0001c0004t0001g0117 a0001c0009t0001g0102 a0005c0008t0001g0028 a0005c0008t0001g0030 a0009c0019t0001g0071	9	342	0.0263	-23	c.259 others(40): Show c.2599+323_2599+345delTCTCTCTCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673984	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0098 a0001c0013t0001g0098	1	342	0.0029	-23	c.259 others(40): Show c.2599+327_2599+349delTCTCTCTCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC4_chr13_95014835_95306451	95176269	CGAGACCA others(16): Show CGAGACCAGCCTGGGCAACATAGG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0099 a0003c0008t0001g0099	1	248	0.0040	-23	c.172 others(42): Show c.1727+1415_1727+1437delCCTATGTTGCCCAGGCTGGTCTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	13/30			chr13	TogoVar
ABCC9_chr12_21792389_21946426	21816036	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 NA19030.hp1 HG02109.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0023 a0001c0001t0005g0067 a0001c0001t0005g0175 a0001c0001t0004g0023 a0001c0001t0005g0067 a0001c0001t0005g0175	3	212	0.0142	-23	c.389 others(40): Show c.3893-166_3893-144delAAAAAAAAAAAAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	33/39			chr12	TogoVar
ABCG1_chr21_42214140_42302244	42295333	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02615.hp2 HG02895.hp2 HG02897.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0004 a0001c0002t0016 a0001c0012t0004 a0001c0002t0004 a0001c0002t0016 a0001c0012t0004	a0001c0002t0004g0004 a0001c0002t0004g0274 a0001c0002t0016g0343 others(1): Show a0001c0002t0004g0004 a0001c0002t0004g0274 a0001c0002t0016g0343 a0001c0012t0004g0276	5	354	0.0141	-23	c.177 others(40): Show c.1772+695_1772+717delAAAAAAAAAAAAAAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABHD2_chr15_89083456_89207355	89115408	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	234	0.0043	-23	c.-6- others(36): Show c.-6-912_-6-890delGTGTGTGTGTGTGTGTGTGTGTT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABI1_chr10_26741596_26865958	26843468	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	358	0.0028	-23	c.117 others(42): Show c.117+17256_117+17278delATATATTTTTTTTTTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26843472	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp2 HG03927.hp1 HG02132.hp1 HG02135.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0127	3	358	0.0084	-23	c.117 others(42): Show c.117+17252_117+17274delATATATATATTTTTTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26843474	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01109.hp2 others(28): Show HG00558.hp1 HG00639.hp1 HG01109.hp2 HG02040.hp1 HG02523.hp2 HG02698.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG04184.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp2 NA18946.hp2 NA18964.hp1 NA18977.hp1 NA18978.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 others(28): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0318	31	358	0.0866	-23	c.117 others(42): Show c.117+17250_117+17272delATATATATATATTTTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26843476	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00544.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0105 a0001c0001t0001g0121	2	358	0.0056	-23	c.117 others(42): Show c.117+17248_117+17270delATATATATATATATTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203364318	TCCTGACC others(16): Show TCCTGACCTCAAATGATCTGCCCG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0064 a0001c0001t0035g0064	1	320	0.0031	-23	c.118 others(40): Show c.118-2555_118-2533delGACCTCAAATGATCTGCCCGCCT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABL1_chr9_130830254_130892675	130840709	GGGTCTCA others(16): Show GGGTCTCACTATGTCGCCCAGGCT	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19091.hp1 HG03927.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0053 a0001c0002t0001g0052 a0001c0001t0001g0053 a0001c0002t0001g0052	2	278	0.0072	-23	c.79+ others(38): Show c.79+5192_79+5214delCTATGTCGCCCAGGCTGGTCTCA	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABLIM1_chr10_114426112_114663275	114644319	ATATATAT others(16): Show ATATATATATATGTGTATATATTG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0134 a0001c0003t0134	a0001c0003t0134g0098 a0001c0003t0134g0098	1	256	0.0039	-23	c.244 others(42): Show c.244+13615_244+13637delCAATATATACACATATATATATA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABR_chr17_998519_1184981	1053811	GGGAGGGG others(16): Show GGGAGGGGCGGCATCTGGGGACAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(50): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02080.hp2 HG02273.hp1 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0049 a0001c0001t0065 a0001c0001t0082 a0001c0001t0086 a0001c0001t0088 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0080 a0001c0003t0083 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0117 a0001c0001t0003g0168 a0001c0001t0003g0222 a0001c0001t0004g0258 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0042 a0001c0001t0011g0125 a0001c0001t0013g0028 a0001c0001t0019g0057 a0001c0001t0020g0161 a0001c0001t0022g0047 a0001c0001t0032g0259 a0001c0001t0049g0193 a0001c0001t0065g0137 a0001c0001t0082g0302 a0001c0001t0086g0294 a0001c0001t0088g0299 a0001c0003t0012g0105 a0001c0003t0012g0119 a0001c0003t0016g0163 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0080g0287 a0001c0003t0083g0285 a0001c0010t0001g0139	53	337	0.1573	-23	c.156 others(42): Show c.1561+2201_1561+2223delATGTCCCCAGATGCCGCCCCTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18967.hp1 NA18970.hp2 NA18947.hp1 NA18967.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0127 a0001c0001t0003g0059 a0001c0001t0003g0080 a0001c0001t0002g0127 a0001c0001t0003g0059 a0001c0001t0003g0080	3	337	0.0089	-23	c.640 others(38): Show c.640-421_640-399delTTTTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1091316	CGGAGCAC others(16): Show CGGAGCACCCTCCGGGAGGGAGAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(62): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02273.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03831.hp2 HG04199.hp2 HG04228.hp1 NA18944.hp2 NA18948.hp2 NA18954.hp2 NA18962.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0030 a0001c0001t0034 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0063 a0001c0001t0074 a0001c0001t0087 a0001c0001t0088 a0001c0002t0092 a0001c0003t0054 a0001c0004t0048 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0071 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0168 a0001c0001t0003g0222 a0001c0001t0003g0237 a0001c0001t0004g0252 a0001c0001t0004g0258 a0001c0001t0004g0293 a0001c0001t0004g0297 a0001c0001t0004g0312 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0006g0118 a0001c0001t0007g0281 a0001c0001t0007g0317 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0008g0042 a0001c0001t0009g0018 a0001c0001t0009g0045 a0001c0001t0009g0046 a0001c0001t0009g0050 a0001c0001t0010g0274 a0001c0001t0010g0314 a0001c0001t0011g0167 a0001c0001t0011g0238 a0001c0001t0015g0275 a0001c0001t0019g0057 a0001c0001t0020g0136 a0001c0001t0022g0031 a0001c0001t0030g0107 a0001c0001t0034g0003 a0001c0001t0045g0247 a0001c0001t0046g0154 a0001c0001t0049g0193 a0001c0001t0063g0189 a0001c0001t0074g0115 a0001c0001t0087g0311 a0001c0001t0088g0299 a0001c0002t0092g0336 a0001c0003t0054g0231 a0001c0004t0048g0198 a0002c0005t0001g0186 a0002c0005t0001g0197	65	337	0.1929	-23	c.531 others(38): Show c.531+326_531+348delTTCTCCCTCCCGGAGGGTGCTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	4/22			chr17	TogoVar
ABR_chr17_998519_1184981	1172956	CCCATCAC others(16): Show CCCATCACCTCAGCCCACCCAACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18971.hp1 NA18982.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0015 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0026 a0001c0001t0030 a0001c0001t0046 a0001c0001t0049 a0001c0001t0057 a0001c0001t0059 a0001c0001t0063 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0084 a0001c0001t0089 a0001c0002t0001 a0001c0002t0002 a0001c0002t0053 a0001c0002t0056 a0001c0002t0060 a0001c0003t0016 a0001c0004t0048 a0002c0005t0001 a0003c0015t0062 a0004c0011t0009	a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0056 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0002g0053 a0001c0001t0002g0081 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0145 a0001c0001t0002g0170 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0003g0060 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0117 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0004g0268 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0266 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0086 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0208 a0001c0001t0006g0215 a0001c0001t0006g0233 a0001c0001t0007g0249 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0009g0018 a0001c0001t0009g0032 a0001c0001t0011g0167 a0001c0001t0013g0028 a0001c0001t0015g0265 a0001c0001t0019g0057 a0001c0001t0026g0027 a0001c0001t0026g0030 a0001c0001t0030g0210 a0001c0001t0046g0154 a0001c0001t0049g0193 a0001c0001t0057g0174 a0001c0001t0059g0166 a0001c0001t0063g0189 a0001c0001t0068g0160 a0001c0001t0069g0153 a0001c0001t0070g0213 a0001c0001t0071g0185 a0001c0001t0072g0175 a0001c0001t0074g0115 a0001c0001t0076g0171 a0001c0001t0077g0067 a0001c0001t0079g0267 a0001c0001t0084g0330 a0001c0001t0089g0331 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0100 a0001c0002t0002g0172 a0001c0002t0053g0070 a0001c0002t0056g0155 a0001c0002t0060g0234 a0001c0003t0016g0218 a0001c0004t0048g0198 a0002c0005t0001g0197 a0003c0015t0062g0212 a0004c0011t0009g0029	108	337	0.3205	-23	c.61+ others(38): Show c.61+6688_61+6710delTGTTGGGTGGGCTGAGGTGATGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107335286	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0028 a0003c0020t0001g0028	1	186	0.0054	-23	c.113 others(44): Show c.1135+15229_1135+15251delAAAAAAAAAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608877	TTAAAATA others(16): Show TTAAAATAAAATAAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG02257.hp1 others(12): Show HG01081.hp1 HG01109.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0018	a0001c0012 a0002c0018 a0003c0008 others(3): Show a0001c0012 a0002c0018 a0003c0008 a0003c0021 a0007c0010 a0018c0027	a0001c0012t0001 a0001c0012t0004 a0001c0012t0027 others(8): Show a0001c0012t0001 a0001c0012t0004 a0001c0012t0027 a0002c0018t0020 a0003c0008t0001 a0003c0008t0002 a0003c0008t0011 a0003c0021t0006 a0007c0010t0003 a0007c0010t0005 a0018c0027t0001	a0001c0012t0001g0047 a0001c0012t0004g0039 a0001c0012t0027g0023 others(12): Show a0001c0012t0001g0047 a0001c0012t0004g0039 a0001c0012t0027g0023 a0002c0018t0020g0168 a0003c0008t0001g0021 a0003c0008t0001g0049 a0003c0008t0001g0052 a0003c0008t0002g0087 a0003c0008t0002g0092 a0003c0008t0011g0153 a0003c0021t0006g0151 a0007c0010t0003g0162 a0007c0010t0005g0090 a0007c0010t0005g0150 a0018c0027t0001g0045	15	186	0.0807	-23	c.164 others(42): Show c.1644-1312_1644-1290delTAAAATAAAATAAAATAAATAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16			chr12	TogoVar
ACACA_chr17_37079992_37411836	37173997	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02818.hp2 others(3): Show HG02257.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0001 a0001c0001t0002 a0001c0001t0028	a0001c0001t0001g0138 a0001c0001t0001g0259 a0001c0001t0001g0263 others(3): Show a0001c0001t0001g0138 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0028g0264	6	299	0.0201	-23	c.507 others(42): Show c.5079+5240_5079+5262delTATATATATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACAD11_chr3_132553141_132664809	132568726	AGGCACAA others(16): Show AGGCACAAAAACAATTCAATGGAG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	316	0.0032	-23	c.200 others(42): Show c.2001+7023_2001+7045delCTCCATTGAATTGTTTTTGTGCC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	17/19			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195424240	GTGTGGTG others(16): Show GTGTGGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02647.hp1 others(1): Show HG02055.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0013 a0001c0001t0007 a0001c0003t0013	a0001c0001t0007g0210 a0001c0003t0013g0206 a0001c0003t0013g0208 others(1): Show a0001c0001t0007g0210 a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209	4	324	0.0124	-23	c.53+ others(40): Show c.53+18532_53+18554delTACACACACACACACACACCACA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACER3_chr11_76855918_77031797	76950388	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02622.hp2 NA19058.hp1 others(1): Show HG02074.hp2 HG02622.hp2 NA19058.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 a0001c0001t0061	a0001c0001t0005g0183 a0001c0001t0008g0042 a0001c0001t0029g0202 others(1): Show a0001c0001t0005g0183 a0001c0001t0008g0042 a0001c0001t0029g0202 a0001c0001t0061g0187	4	346	0.0116	-23	c.215 others(40): Show c.215-8588_215-8566delATATATATATATATATATATAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACHE_chr7_100884994_100900888	100900348	GCTTAGTT others(16): Show GCTTAGTTTAGCCTCTTTTCTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	414	0.0024	-23	c.-45 others(34): Show c.-4590_-4568delGCCAGAAAAGAGGCTAAACTAAG	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding		4461		chr7	TogoVar
ACKR3_chr2_236564825_236587354	236575620	TGTCTGGG others(16): Show TGTCTGGGGTTGTGCTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp1 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0084 a0001c0002t0001g0088	2	394	0.0051	-23	c.-26 others(40): Show c.-26-4817_-26-4795delCTGGGGTTGTGCTGTGTGTGCGT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOT11_chr1_54543228_54615329	54599172	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0319	1	388	0.0026	-23	c.765 others(38): Show c.765-122_765-100delAAAAAAAAATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599176	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02056.hp2 NA18956.hp2 HG00544.hp2 HG02056.hp2 NA18956.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0013 a0001c0006t0008g0015 a0001c0006t0008g0147 a0001c0006t0008g0013 a0001c0006t0008g0015 a0001c0006t0008g0147	3	388	0.0077	-23	c.765 others(37): Show c.765-118_765-96delAAAAATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599178	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0148 a0001c0006t0008g0148	1	388	0.0026	-23	c.765 others(37): Show c.765-116_765-94delAAATATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT9_chrX_23696055_23748276	23697892	CAAAAAGA others(16): Show CAAAAAGAAAAAAAAAAAAAAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	309	0.0032	-23	c.59 others(34): Show c.5979_*6001delTTCTTTTTTTTTTTTTTCTTTTT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding		3162		chrX	TogoVar
ACOX3_chr4_8361282_8445723	8409917	AGCTGTCT others(16): Show AGCTGTCTGTGCACTGTGGGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG02809.hp2 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0249 a0001c0003t0001g0250	2	380	0.0053	-23	c.687 others(38): Show c.687+272_687+294delCGCGCCCACAGTGCACAGACAGC	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	6/17			chr4	TogoVar
ACSF3_chr16_89088852_89161233	89160341	CCCCGAAG others(16): Show CCCCGAAGACCCCCCGCTTCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG02129.hp1 others(26): Show HG00642.hp2 HG01074.hp1 HG02129.hp1 HG02523.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18961.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19011.hp1 NA19057.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0001c0001t0029 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0007c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0110 a0001c0001t0001g0196 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0110 a0001c0001t0001g0196 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0324 a0001c0001t0001g0356 a0001c0001t0029g0243 a0001c0001t0030g0357 a0001c0001t0036g0247 a0007c0013t0001g0280 a0007c0013t0001g0292	29	368	0.0788	-23	c.61 others(34): Show c.6135_*6157delCCCGAAGACCCCCCGCTTCCTCA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		4109		chr16	TogoVar
ACSF3_chr16_89088852_89161233	89160442	CCCCCCGC others(16): Show CCCCCCGCTTCCTTGCCCCGAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA18977.hp2 NA18980.hp2 HG02717.hp2 NA18977.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0008 a0002c0002t0042 a0002c0002t0006 a0002c0002t0008 a0002c0002t0042	a0002c0002t0006g0150 a0002c0002t0008g0236 a0002c0002t0042g0152 a0002c0002t0006g0150 a0002c0002t0008g0236 a0002c0002t0042g0152	3	368	0.0082	-23	c.62 others(34): Show c.6236_*6258delCCCCCGCTTCCTTGCCCCGAAGA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		4210		chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423208	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	364	0.0028	-23	c.159 others(40): Show c.1593+769_1593+791delAAAAAAAAAAAAATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)