Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACACA_chr17_37079992_37411836	37260278	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	299	0.0033	-19	c.133 others(36): Show c.1330-767_1330-749delATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260280	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	299	0.0033	-19	c.133 others(36): Show c.1330-769_1330-751delAAATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260282	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01346.hp2 others(14): Show HG00621.hp1 HG00738.hp1 HG01346.hp2 HG01891.hp1 HG02071.hp2 HG02622.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp2 NA18972.hp1 NA19003.hp1 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19076.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027	a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0217 others(14): Show a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0004g0115 a0001c0001t0004g0169 a0001c0001t0004g0174 a0001c0001t0006g0189 a0001c0001t0016g0204 a0001c0001t0016g0235 a0001c0001t0018g0002 a0001c0001t0027g0291	17	299	0.0569	-19	c.133 others(36): Show c.1330-771_1330-753delAAAAATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260284	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp2 others(42): Show HG00099.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02683.hp1 HG03239.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp1 NA18747.hp2 NA18964.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19056.hp2 NA19068.hp1 NA19083.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0136 others(42): Show a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0136 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0002g0020 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0181 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0006g0207 a0001c0001t0012g0048 a0001c0001t0012g0095	45	299	0.1505	-19	c.133 others(36): Show c.1330-773_1330-755delAAAAAAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260286	ATATATAT others(12): Show ATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 NA19030.hp1 HG02258.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0047 a0001c0001t0002g0025 a0001c0001t0007g0073 a0001c0001t0001g0047 a0001c0001t0002g0025 a0001c0001t0007g0073	3	299	0.0100	-19	c.133 others(36): Show c.1330-775_1330-757delAAAAAAAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260288	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	299	0.0033	-19	c.133 others(36): Show c.1330-777_1330-759delAAAAAAAAAAATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37342419	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0020 a0001c0011t0020	a0001c0011t0020g0033 a0001c0011t0020g0033	1	299	0.0033	-19	c.39- others(34): Show c.39-2588_39-2570delATTTTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACADSB_chr10_123004006_123063290	123045150	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	374	0.0027	-19	c.900 others(34): Show c.900+666_900+684delATATATATATATATATATA	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10			chr10	TogoVar
ACAP2_chr3_195269745_195448020	195290830	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0307 a0001c0001t0007g0307	1	324	0.0031	-19	c.206 others(36): Show c.2063+857_2063+875delATTTATTTATTTATTTATT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	20/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195320454	CTCCTTGC others(12): Show CTCCTTGCTTCCTTATTTAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02647.hp1 HG02055.hp2 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209 a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209	3	324	0.0093	-19	c.857 others(34): Show c.857+228_857+246delTTAAATAAGGAAGCAAGGA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	10/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1298522	ACCCCCGC others(12): Show ACCCCCGCCTAAGGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	295	0.0034	-19	c.863 others(32): Show c.863+26_863+44delCGGGGTCCTTAGGCGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	11/23			chr1	TogoVar
ACAT1_chr11_108116567_108152603	108151631	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	386	0.0026	-19	c.42 others(30): Show c.4242_*4260delAAAAAAAAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACBD3_chr1_226139679_226191741	226172180	ATTTTCAG others(12): Show ATTTTCAGTGCTAGTCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04199.hp2 HG00597.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0317 a0001c0001t0002g0284 a0001c0001t0002g0317	2	396	0.0051	-19	c.287 others(36): Show c.287-6199_287-6181delCCAGGACTAGCACTGAAAA	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180296402	GAGGATGG others(12): Show GAGGATGGCTATACTACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(27): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01261.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp1 HG03471.hp2 HG03710.hp1 NA18945.hp1 NA18951.hp1 NA18982.hp1 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA19002.hp2 NA19072.hp2 NA19084.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0002g0324 a0001c0001t0006g0002	30	334	0.0898	-19	c.695 others(36): Show c.695-7904_695-7886delTGTGTAGTATAGCCATCCT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	7/7			chr1	TogoVar
ACER2_chr9_19404009_19457505	19427989	CTTTCCTT others(12): Show CTTTCCTTTCCTTTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp1 others(7): Show HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0003t0005 a0003c0004t0004	a0001c0001t0001g0095 a0001c0001t0006g0328 a0001c0001t0009g0119 others(7): Show a0001c0001t0001g0095 a0001c0001t0006g0328 a0001c0001t0009g0119 a0001c0001t0011g0114 a0001c0003t0005g0079 a0001c0003t0005g0080 a0003c0004t0004g0123 a0003c0004t0004g0124 a0003c0004t0004g0131 a0003c0004t0004g0297	10	358	0.0279	-19	c.365 others(36): Show c.365+3162_365+3180delTTCCTTTTTCCTTTCCTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76950392	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG06807.hp1 NA18968.hp2 others(3): Show HG00099.hp2 HG06807.hp1 NA18968.hp2 NA18990.hp2 NA19003.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0005t0047	a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0004g0073 others(3): Show a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0004g0073 a0001c0001t0008g0057 a0001c0001t0008g0062 a0001c0005t0047g0005	6	346	0.0173	-19	c.215 others(36): Show c.215-8584_215-8566delATATATATATATATATAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76992116	GCAGGAGG others(12): Show GCAGGAGGATCCCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02622.hp1 others(13): Show HG01884.hp1 HG02055.hp2 HG02622.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 others(13): Show a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0003t0134 a0001c0003t0135 a0001c0003t0136 a0001c0003t0141 a0001c0003t0142 a0001c0003t0143 a0001c0003t0144 a0001c0003t0147 a0001c0003t0148 a0001c0003t0149 a0001c0003t0152 a0001c0003t0153	a0001c0003t0130g0346 a0001c0003t0131g0342 a0001c0003t0132g0343 others(13): Show a0001c0003t0130g0346 a0001c0003t0131g0342 a0001c0003t0132g0343 a0001c0003t0133g0340 a0001c0003t0134g0345 a0001c0003t0135g0344 a0001c0003t0136g0341 a0001c0003t0141g0332 a0001c0003t0142g0335 a0001c0003t0143g0334 a0001c0003t0144g0338 a0001c0003t0147g0336 a0001c0003t0148g0014 a0001c0003t0149g0337 a0001c0003t0152g0333 a0001c0003t0153g0125	16	346	0.0462	-19	c.438 others(36): Show c.438+1568_438+1586delGATCCCTTGAGCCCAGGAG	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACLY_chr17_41861918_41923951	41879647	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA20129.hp1 NA19081.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0003 a0001c0003t0004 a0002c0002t0003	a0001c0003t0004g0250 a0002c0002t0003g0277 a0001c0003t0004g0250 a0002c0002t0003g0277	2	294	0.0068	-19	c.226 others(36): Show c.2266-742_2266-724delTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41903755	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0240 a0001c0003t0005g0240	1	294	0.0034	-19	c.106 others(36): Show c.1065+955_1065+973delTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	10/28			chr17	TogoVar
ACO1_chr9_32379643_32459769	32454457	ATAACAAG others(12): Show ATAACAAGGTGGTAGTTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02886.hp2 others(4): Show HG02451.hp2 HG02572.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0002c0007	a0001c0001t0069 a0001c0001t0080 a0001c0001t0113 others(3): Show a0001c0001t0069 a0001c0001t0080 a0001c0001t0113 a0001c0002t0038 a0001c0019t0112 a0002c0007t0044	a0001c0001t0069g0059 a0001c0001t0080g0323 a0001c0001t0113g0062 others(4): Show a0001c0001t0069g0059 a0001c0001t0080g0323 a0001c0001t0113g0062 a0001c0002t0038g0301 a0001c0002t0038g0328 a0001c0019t0112g0138 a0002c0007t0044g0095	7	382	0.0183	-19	c.43 others(30): Show c.4352_*4370delAGGTGGTAGTTGTGTAACA	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	21/21	4352	INFO_REALIGN_3_PRIME	chr9	TogoVar
ACO2_chr22_41464117_41533974	41511167	TTATTTTA others(12): Show TTATTTTATTCTTATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	334	0.0030	-19	c.433 others(34): Show c.433-707_433-689delATTTTATTCTTATTTTTAT	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
ACOT11_chr1_54543228_54615329	54599164	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0369 a0003c0003t0005g0369	1	388	0.0026	-19	c.765 others(34): Show c.765-130_765-112delAAAAAAAAAAAAAAAAATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599168	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0142 a0003c0003t0005g0142	1	388	0.0026	-19	c.765 others(34): Show c.765-126_765-108delAAAAAAAAAAAAATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599172	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18951.hp2 NA18906.hp1 NA18951.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0002 a0005c0011t0003 a0001c0001t0002 a0005c0011t0003	a0001c0001t0002g0268 a0005c0011t0003g0057 a0001c0001t0002g0268 a0005c0011t0003g0057	2	388	0.0052	-19	c.765 others(34): Show c.765-122_765-104delAAAAAAAAATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599174	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0005 a0005	a0005c0005 a0005c0011 a0005c0005 a0005c0011	a0005c0005t0003 a0005c0011t0003 a0005c0005t0003 a0005c0011t0003	a0005c0005t0003g0166 a0005c0011t0003g0059 a0005c0005t0003g0166 a0005c0011t0003g0059	2	388	0.0052	-19	c.765 others(34): Show c.765-120_765-102delAAAAAAATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599176	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0007 a0002c0030t0007	a0002c0030t0007g0065 a0002c0030t0007g0065	1	388	0.0026	-19	c.765 others(34): Show c.765-118_765-100delAAAAATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599178	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0107 a0002c0009t0007g0107	1	388	0.0026	-19	c.765 others(33): Show c.765-116_765-98delAAATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6308622	CACAACAG others(12): Show CACAACAGGCAGAAGGAACA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp1 others(43): Show HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG02074.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp2 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03834.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19066.hp2 NA19079.hp1 NA19090.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0002t0002 a0001c0003t0004	a0001c0001t0002g0001 a0001c0001t0002g0098 a0001c0001t0002g0099 others(42): Show a0001c0001t0002g0001 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0004g0202 a0001c0001t0004g0208 a0001c0001t0004g0232 a0001c0001t0006g0201 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0013g0039 a0001c0001t0016g0233 a0001c0002t0002g0121 a0001c0003t0004g0205	46	240	0.1917	-19	c.712 others(36): Show c.712+9851_712+9869delTGTTCCTTCTGCCTGTTGT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6308623	ACAACAGG others(12): Show ACAACAGGCAGAAGGAACAG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	240	0.0042	-19	c.712 others(36): Show c.712+9850_712+9868delCTGTTCCTTCTGCCTGTTG	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOX2_chr3_58500136_58542190	58510648	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	364	0.0028	-19	c.185 others(38): Show c.1851-1642_1851-1624delATATTTTTTTTTTTTTTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510652	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0258 a0003c0010t0001g0258	1	364	0.0028	-19	c.185 others(38): Show c.1851-1646_1851-1628delATATATATTTTTTTTTTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACP1_chr2_259947_283283	271195	TCATCCTT others(12): Show TCATCCTTATGTGTGATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 HG02258.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0003 a0005c0007t0003 a0001c0001t0003 a0005c0007t0003	a0001c0001t0003g0027 a0005c0007t0003g0027 a0001c0001t0003g0027 a0005c0007t0003g0027	2	390	0.0051	-19	c.44- others(32): Show c.44-669_44-651delATCCTTATGTGTGATATAC	ACP1	ENSG00000143727.16	transcript	ENST00000272065.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP6_chr1_147637230_147675524	147645194	ATATAATA others(12): Show ATATAATAATTTTATAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0055 a0001c0003t0031g0055	1	404	0.0025	-19	c.22 others(30): Show c.2210_*2228delATTTTATAAAATTATTATA	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	10/10	2210		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6184832	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp1 HG02055.hp2 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0009 a0003c0004t0002g0013 a0003c0004t0002g0009 a0003c0004t0002g0013	2	262	0.0076	-19	c.132 others(36): Show c.1323-582_1323-564delAAAAAAAAAAAAAAAAAAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF3_chr16_89088852_89161233	89147181	GGAGGGAG others(12): Show GGAGGGAGGGTCCACAGAGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0090 a0002c0003t0005g0091 a0002c0003t0005g0090 a0002c0003t0005g0091	2	368	0.0054	-19	c.161 others(38): Show c.1613+1136_1613+1154delGGAGGGTCCACAGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147505	GGAGGGGT others(12): Show GGAGGGGTCACAGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01952.hp2 HG01069.hp2 HG01099.hp2 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0023 a0001c0005t0011 a0002c0003t0005 a0001c0001t0023 a0001c0005t0011 a0002c0003t0005	a0001c0001t0023g0274 a0001c0005t0011g0312 a0002c0003t0005g0077 a0001c0001t0023g0274 a0001c0005t0011g0312 a0002c0003t0005g0077	3	368	0.0082	-19	c.161 others(38): Show c.1613+1458_1613+1476delAGGGGTCACAGAGTGAGCG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112378895	TTGGAAGG others(12): Show TTGGAAGGTCAGACAGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01074.hp1 others(28): Show HG00323.hp2 HG00544.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01928.hp2 HG02055.hp2 HG02129.hp2 HG02293.hp2 HG02809.hp1 HG02895.hp2 NA18939.hp1 NA18948.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18981.hp2 NA18985.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19066.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 a0002c0002t0001g0041 a0002c0002t0003g0002 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061	31	364	0.0852	-19	c.-30 others(36): Show c.-30+4629_-30+4647delGAAGGTCAGACAGCCCGTG	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112401829	TTTCTTTC others(12): Show TTTCTTTCTTTCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	364	0.0028	-19	c.266 others(36): Show c.266-2678_266-2660delTTTCTTTCTTCCTTCCTTC	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423212	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp1 NA19240.hp1 HG03225.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0265 a0001c0003t0002g0266 a0001c0003t0002g0268 a0001c0003t0002g0265 a0001c0003t0002g0266 a0001c0003t0002g0268	3	364	0.0082	-19	c.159 others(36): Show c.1593+773_1593+791delAAAAAAAAATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL6_chr5_131944973_132016658	132001178	AGGAAATC others(12): Show AGGAAATCCAGTGGTCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	326	0.0031	-19	c.50- others(34): Show c.50-6946_50-6928delCACAGACCACTGGATTTCC	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	1/20			chr5	TogoVar
ACSM6_chr10_95189238_95233929	95225234	AGGAAGAG others(12): Show AGGAAGAGCACAAGTGGTTT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	314	0.0032	-19	c.120 others(34): Show c.1201-54_1201-36delGAAGAGCACAAGTGGTTTG	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS2_chr20_34871612_34932959	34874149	CAGGGATG others(12): Show CAGGGATGGCCTGAAGTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0076 a0001c0002t0004g0076	1	312	0.0032	-19	c.-24 others(30): Show c.-2496_-2478delAGGGATGGCCTGAAGTGCT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding		2462		chr20	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG04184.hp1 HG04184.hp2 HG01884.hp1 HG04184.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0179 a0001c0001t0001g0209 a0001c0001t0001g0087 a0001c0001t0001g0179 a0001c0001t0001g0209	3	360	0.0083	-19	c.369 others(36): Show c.369+2001_369+2019delTTTTTTTTTTTTTTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTN1_chr14_68869128_68984302	68929634	CCCAGGAA others(12): Show CCCAGGAAAAGTCCTTGGGA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp1 HG01943.hp1 others(31): Show HG01255.hp2 HG01496.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp2 HG03540.hp2 HG03688.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18942.hp1 NA18948.hp2 NA18969.hp2 NA18970.hp2 NA19066.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0001g0190 others(31): Show a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0126 a0001c0002t0002g0088 a0001c0002t0002g0122 a0001c0002t0003g0129 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0156 a0001c0002t0003g0175 a0001c0002t0003g0234 a0001c0002t0003g0270 a0001c0003t0001g0184 a0001c0003t0001g0254	34	284	0.1197	-19	c.106 others(36): Show c.106-3981_106-3963delTCCCAAGGACTTTTCCTGG	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN4_chr19_38642649_38736589	38735698	GGGGGTTC others(12): Show GGGGGTTCTGGGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	314	0.0032	-19	c.62 others(30): Show c.6267_*6285delGGGGTTCTGGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4110		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735738	GGGGGTTC others(12): Show GGGGGTTCTGGGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	314	0.0032	-19	c.63 others(30): Show c.6307_*6325delGGGGTTCTGGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4150		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735808	GGGGGTTC others(12): Show GGGGGTTCTGGGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	314	0.0032	-19	c.63 others(30): Show c.6377_*6395delGGGGTTCTGGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4220		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736014	CGGGGGTC others(12): Show CGGGGGTCTCGGGGGTCTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0184 a0001c0003t0003g0184	1	314	0.0032	-19	c.65 others(30): Show c.6583_*6601delGGGGGTCTCGGGGGTCTCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4426		chr19	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02723.hp1 HG02976.hp1 others(1): Show HG00735.hp1 HG02723.hp1 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0269 a0001c0001t0005g0290	4	310	0.0129	-19	c.45- others(34): Show c.45-4220_45-4202delAAAAAAAAAAAAAAAAAAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR5_chr20_38743460_38777520	38776912	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	366	0.0027	-19	c.50 others(30): Show c.5097_*5115delGTGTGTGTGTGTGTGTGTG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		4393		chr20	TogoVar

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Search Results (Total: 7091 hits)