Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABLIM1_chr10_114426112_114663275	114601049	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 homoSapiens_chm13v2.hp1 HG01433.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0057 a0001c0001t0004 a0001c0001t0057	a0001c0001t0004g0136 a0001c0001t0057g0085 a0001c0001t0004g0136 a0001c0001t0057g0085	2	256	0.0078	-18	c.379 others(33): Show c.379+760_379+777delGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114638622	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0110 a0001c0002t0110	a0001c0002t0110g0157 a0001c0002t0110g0157	1	256	0.0039	-18	c.244 others(37): Show c.244+19317_244+19334delGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8091544	AATATTTA others(11): Show AATATTTATAATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00639.hp1 others(60): Show HG00408.hp1 HG00544.hp1 HG00639.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18986.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009 a0001c0004t0001 a0001c0004t0007	a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0095 others(60): Show a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0225 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0288 a0001c0001t0001g0318 a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0213 a0001c0001t0002g0222 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0246 a0001c0001t0002g0284 a0001c0001t0003g0244 a0001c0001t0003g0301 a0001c0001t0004g0204 a0001c0001t0004g0224 a0001c0001t0005g0019 a0001c0001t0005g0294 a0001c0001t0006g0210 a0001c0001t0006g0272 a0001c0001t0007g0112 a0001c0001t0007g0308 a0001c0001t0009g0212 a0001c0001t0010g0033 a0001c0001t0010g0302 a0001c0001t0011g0271 a0001c0001t0014g0038 a0001c0001t0016g0111 a0001c0001t0017g0203 a0001c0001t0020g0002 a0001c0001t0026g0285 a0001c0001t0028g0062 a0001c0001t0029g0022 a0001c0001t0032g0320 a0001c0002t0001g0120 a0001c0002t0001g0139 a0001c0002t0002g0055 a0001c0002t0002g0290 a0001c0002t0002g0296 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0003g0049 a0001c0002t0003g0200 a0001c0002t0005g0107 a0001c0003t0001g0015 a0001c0003t0001g0241 a0001c0003t0004g0036 a0001c0003t0007g0218 a0001c0003t0009g0221 a0001c0004t0001g0069 a0001c0004t0007g0131	63	322	0.1957	-18	c.339 others(35): Show c.339-3278_339-3261delATATATAATTATAAATAT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8093199	GAATAATC others(11): Show GAATAATCAATATTTTGTA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0198 a0001c0001t0025g0198	1	322	0.0031	-18	c.338 others(35): Show c.338+3882_338+3899delTACAAAATATTGATTATT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149208378	CTCTCTCT others(11): Show CTCTCTCTCAATTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02615.hp2 others(7): Show HG01884.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(1): Show a0001c0001 a0001c0006 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0006t0017 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0017 a0002c0004t0004 a0002c0005t0013	a0001c0001t0001g0019 a0001c0001t0004g0078 a0001c0001t0004g0092 others(7): Show a0001c0001t0001g0019 a0001c0001t0004g0078 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0182 a0001c0006t0017g0071 a0002c0004t0004g0014 a0002c0004t0004g0090 a0002c0004t0004g0091 a0002c0005t0013g0020	10	258	0.0388	-18	c.575 others(35): Show c.575+1253_575+1270delAATTTCTCTTTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225976	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02615.hp1 HG02723.hp1 HG01071.hp1 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0109 a0001c0001t0003g0213 a0001c0001t0003g0004 a0001c0001t0003g0109 a0001c0001t0003g0213	3	258	0.0116	-18	c.758 others(35): Show c.758-4671_758-4654delGTGTGTATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225982	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	258	0.0039	-18	c.758 others(35): Show c.758-4639_758-4622delATATATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	999323	CTATATAT others(11): Show CTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01123.hp1 HG01934.hp2 others(1): Show HG00544.hp1 HG01123.hp1 HG01934.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0003g0129 a0001c0001t0007g0317 a0001c0001t0007g0326 others(1): Show a0001c0001t0003g0129 a0001c0001t0007g0317 a0001c0001t0007g0326 a0001c0001t0008g0042	4	337	0.0119	-18	c.67 others(29): Show c.6739_*6756delTATATATATATATATATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4195		chr17	TogoVar
ABR_chr17_998519_1184981	1057305	GGTTTGTG others(11): Show GGTTTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00609.hp1 others(98): Show HG00140.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01081.hp1 HG01167.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18971.hp2 NA18999.hp2 NA19002.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0061 a0001c0001t0064 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0077 a0001c0001t0078 a0001c0001t0087 a0001c0001t0091 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025 a0001c0003t0051 a0001c0003t0054 a0001c0007t0003 a0001c0009t0018 a0002c0005t0001 a0004c0011t0009	a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0069 others(98): Show a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0219 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0223 a0001c0001t0003g0068 a0001c0001t0003g0092 a0001c0001t0003g0112 a0001c0001t0003g0217 a0001c0001t0003g0237 a0001c0001t0004g0250 a0001c0001t0004g0256 a0001c0001t0004g0290 a0001c0001t0004g0313 a0001c0001t0004g0329 a0001c0001t0005g0266 a0001c0001t0005g0269 a0001c0001t0005g0271 a0001c0001t0005g0279 a0001c0001t0005g0283 a0001c0001t0005g0291 a0001c0001t0005g0304 a0001c0001t0005g0320 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0090 a0001c0001t0006g0094 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0206 a0001c0001t0006g0208 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0007g0317 a0001c0001t0007g0326 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0009g0046 a0001c0001t0009g0050 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0274 a0001c0001t0010g0298 a0001c0001t0011g0246 a0001c0001t0014g0243 a0001c0001t0015g0265 a0001c0001t0015g0292 a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0018g0111 a0001c0001t0020g0136 a0001c0001t0021g0284 a0001c0001t0022g0031 a0001c0001t0026g0027 a0001c0001t0027g0038 a0001c0001t0027g0039 a0001c0001t0028g0122 a0001c0001t0028g0123 a0001c0001t0029g0116 a0001c0001t0030g0107 a0001c0001t0033g0327 a0001c0001t0039g0010 a0001c0001t0040g0002 a0001c0001t0041g0015 a0001c0001t0043g0008 a0001c0001t0044g0021 a0001c0001t0046g0154 a0001c0001t0061g0149 a0001c0001t0064g0239 a0001c0001t0067g0091 a0001c0001t0069g0153 a0001c0001t0070g0213 a0001c0001t0072g0175 a0001c0001t0077g0067 a0001c0001t0078g0289 a0001c0001t0087g0311 a0001c0001t0091g0286 a0001c0003t0023g0005 a0001c0003t0024g0040 a0001c0003t0025g0006 a0001c0003t0051g0106 a0001c0003t0054g0231 a0001c0007t0003g0140 a0001c0009t0018g0102 a0002c0005t0001g0186 a0004c0011t0009g0029	101	337	0.2997	-18	c.138 others(35): Show c.1382-221_1382-204delACACACACACACACAAAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1057308	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 NA19043.hp1 others(1): Show HG02486.hp2 HG02647.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0008 a0001c0002t0011 a0001c0004t0048 others(1): Show a0001c0002t0008 a0001c0002t0011 a0001c0004t0048 a0001c0013t0018	a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0004t0048g0198 others(1): Show a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0004t0048g0198 a0001c0013t0018g0108	4	337	0.0119	-18	c.138 others(35): Show c.1382-224_1382-207delCACACACACACACACACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1057649	ATGTGTGT others(11): Show ATGTGTGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp2 HG02486.hp1 HG01952.hp1 HG02109.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0068 a0001c0001t0008 a0001c0001t0014 a0001c0001t0068	a0001c0001t0008g0011 a0001c0001t0014g0097 a0001c0001t0068g0160 a0001c0001t0008g0011 a0001c0001t0014g0097 a0001c0001t0068g0160	3	337	0.0089	-18	c.138 others(35): Show c.1381+303_1381+320delCACACACACATACACACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1142942	CAGCTCAC others(11): Show CAGCTCACTCCTGGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0137 a0001c0001t0065g0137	1	337	0.0030	-18	c.62- others(35): Show c.62-17593_62-17576delTCCTCCCAGGAGTGAGCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143038	TTCCTGGG others(11): Show TTCCTGGGGGGCAGCTCGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18962.hp1 HG02647.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0006 a0001c0013t0018 a0001c0001t0006 a0001c0013t0018	a0001c0001t0006g0233 a0001c0013t0018g0108 a0001c0001t0006g0233 a0001c0013t0018g0108	2	337	0.0059	-18	c.62- others(35): Show c.62-17689_62-17672delGCGAGCTGCCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143146	TTCCTGGG others(11): Show TTCCTGGGGGACAGCTCGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(170): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0002c0005 a0003c0015 a0004c0011 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(71): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0084 a0001c0001t0086 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0038 a0001c0002t0042 a0001c0002t0053 a0001c0002t0060 a0001c0002t0085 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0024 a0001c0003t0051 a0001c0003t0052 a0001c0003t0054 a0001c0004t0024 a0001c0004t0037 a0001c0004t0048 a0001c0006t0047 a0001c0007t0003 a0001c0012t0055 a0002c0005t0001 a0003c0015t0062 a0004c0011t0009 a0005c0008t0020	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0069 others(170): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0190 a0001c0001t0002g0223 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0080 a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0207 a0001c0001t0003g0217 a0001c0001t0003g0237 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0263 a0001c0001t0004g0268 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0316 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0283 a0001c0001t0005g0309 a0001c0001t0005g0320 a0001c0001t0006g0075 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0006g0142 a0001c0001t0006g0162 a0001c0001t0006g0204 a0001c0001t0006g0206 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0007g0251 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0007g0317 a0001c0001t0007g0326 a0001c0001t0008g0012 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0009g0018 a0001c0001t0009g0022 a0001c0001t0009g0032 a0001c0001t0009g0034 a0001c0001t0009g0036 a0001c0001t0009g0045 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0298 a0001c0001t0010g0300 a0001c0001t0010g0310 a0001c0001t0011g0125 a0001c0001t0011g0167 a0001c0001t0011g0238 a0001c0001t0012g0183 a0001c0001t0013g0028 a0001c0001t0014g0097 a0001c0001t0014g0243 a0001c0001t0015g0262 a0001c0001t0017g0113 a0001c0001t0018g0111 a0001c0001t0020g0136 a0001c0001t0020g0161 a0001c0001t0021g0284 a0001c0001t0022g0031 a0001c0001t0023g0035 a0001c0001t0026g0030 a0001c0001t0027g0039 a0001c0001t0028g0122 a0001c0001t0028g0123 a0001c0001t0029g0177 a0001c0001t0032g0259 a0001c0001t0034g0003 a0001c0001t0035g0014 a0001c0001t0039g0010 a0001c0001t0040g0002 a0001c0001t0043g0008 a0001c0001t0045g0247 a0001c0001t0046g0154 a0001c0001t0050g0134 a0001c0001t0061g0149 a0001c0001t0064g0239 a0001c0001t0065g0137 a0001c0001t0066g0236 a0001c0001t0070g0213 a0001c0001t0071g0185 a0001c0001t0073g0245 a0001c0001t0084g0330 a0001c0001t0086g0294 a0001c0001t0088g0299 a0001c0001t0090g0301 a0001c0001t0091g0286 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0110 a0001c0002t0002g0066 a0001c0002t0005g0305 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0038g0013 a0001c0002t0042g0016 a0001c0002t0053g0070 a0001c0002t0060g0234 a0001c0002t0085g0328 a0001c0003t0012g0119 a0001c0003t0016g0163 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0024g0040 a0001c0003t0051g0106 a0001c0003t0052g0220 a0001c0003t0054g0231 a0001c0004t0024g0041 a0001c0004t0037g0017 a0001c0004t0048g0198 a0001c0006t0047g0227 a0001c0007t0003g0140 a0001c0012t0055g0235 a0002c0005t0001g0186 a0002c0005t0001g0197 a0003c0015t0062g0212 a0004c0011t0009g0029 a0005c0008t0020g0132	173	337	0.5134	-18	c.62- others(35): Show c.62-17797_62-17780delGCGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143182	CTCCTGGG others(11): Show CTCCTGGGGGACAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0108 a0001c0013t0018g0108	1	337	0.0030	-18	c.62- others(35): Show c.62-17833_62-17816delATGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143200	TTCCTGGG others(11): Show TTCCTGGGGGACAGCTCGC	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0094 a0001c0001t0006g0094	1	337	0.0030	-18	c.62- others(35): Show c.62-17851_62-17834delGCGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143210	ACAGCTCG others(11): Show ACAGCTCGCTCCTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01070.hp2 others(5): Show HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01358.hp1 HG02074.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0001t0064 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0002g0085 a0001c0001t0006g0142 others(5): Show a0001c0001t0001g0071 a0001c0001t0002g0085 a0001c0001t0006g0142 a0001c0001t0006g0215 a0001c0001t0020g0161 a0001c0001t0064g0239 a0001c0002t0001g0051 a0001c0002t0001g0052	8	337	0.0237	-18	c.62- others(35): Show c.62-17861_62-17844delCCCCCCAGGAGCGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143254	TTCCTGGG others(11): Show TTCCTGGGGGACAGCTCGC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0233 a0001c0001t0006g0233	1	337	0.0030	-18	c.62- others(35): Show c.62-17905_62-17888delGCGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143362	CTCCTGGG others(11): Show CTCCTGGGGGACAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01169.hp1 others(12): Show HG00438.hp1 HG00741.hp2 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG02280.hp1 HG02622.hp2 HG02683.hp2 HG03041.hp1 HG03669.hp2 NA18522.hp1 NA18955.hp2 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0034 a0001c0001t0045 a0001c0001t0084 a0001c0002t0038 a0001c0003t0052	a0001c0001t0001g0224 a0001c0001t0004g0308 a0001c0001t0006g0094 others(12): Show a0001c0001t0001g0224 a0001c0001t0004g0308 a0001c0001t0006g0094 a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0009g0036 a0001c0001t0010g0300 a0001c0001t0011g0167 a0001c0001t0034g0003 a0001c0001t0045g0247 a0001c0001t0084g0330 a0001c0002t0038g0013 a0001c0003t0052g0220	15	337	0.0445	-18	c.62- others(35): Show c.62-18013_62-17996delATGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143390	ACAGCTCG others(11): Show ACAGCTCGCTCCTGGGGGG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0233 a0001c0001t0006g0233	1	337	0.0030	-18	c.62- others(35): Show c.62-18041_62-18024delCCCCCCAGGAGCGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143452	CTCCTGGG others(11): Show CTCCTGGGGGGCAGCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0233 a0001c0001t0006g0233	1	337	0.0030	-18	c.62- others(35): Show c.62-18103_62-18086delATGAGCTGCCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143498	GCAGCTCG others(11): Show GCAGCTCGCTCCTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(90): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02273.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03516.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0002c0005 a0003c0015 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0046 a0001c0001t0050 a0001c0001t0061 a0001c0001t0064 a0001c0001t0070 a0001c0001t0073 a0001c0001t0086 a0001c0001t0088 a0001c0002t0001 a0001c0002t0053 a0001c0003t0016 a0001c0003t0024 a0001c0003t0051 a0001c0003t0080 a0001c0004t0024 a0001c0004t0037 a0001c0004t0048 a0001c0007t0003 a0001c0012t0055 a0002c0005t0001 a0003c0015t0062 a0004c0011t0009	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0069 others(90): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0190 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0080 a0001c0001t0003g0121 a0001c0001t0003g0143 a0001c0001t0003g0217 a0001c0001t0003g0237 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0004g0263 a0001c0001t0004g0308 a0001c0001t0004g0312 a0001c0001t0004g0316 a0001c0001t0004g0329 a0001c0001t0005g0270 a0001c0001t0005g0309 a0001c0001t0006g0094 a0001c0001t0006g0162 a0001c0001t0006g0204 a0001c0001t0006g0206 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0007g0251 a0001c0001t0007g0317 a0001c0001t0009g0022 a0001c0001t0009g0034 a0001c0001t0009g0045 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0298 a0001c0001t0011g0125 a0001c0001t0011g0232 a0001c0001t0011g0238 a0001c0001t0012g0183 a0001c0001t0015g0262 a0001c0001t0015g0265 a0001c0001t0020g0161 a0001c0001t0022g0031 a0001c0001t0023g0035 a0001c0001t0026g0030 a0001c0001t0027g0039 a0001c0001t0028g0123 a0001c0001t0032g0259 a0001c0001t0046g0154 a0001c0001t0050g0134 a0001c0001t0061g0149 a0001c0001t0064g0239 a0001c0001t0070g0213 a0001c0001t0073g0245 a0001c0001t0086g0294 a0001c0001t0088g0299 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0053g0070 a0001c0003t0016g0218 a0001c0003t0024g0040 a0001c0003t0051g0106 a0001c0003t0080g0287 a0001c0004t0024g0041 a0001c0004t0037g0017 a0001c0004t0048g0198 a0001c0007t0003g0140 a0001c0012t0055g0235 a0002c0005t0001g0186 a0002c0005t0001g0197 a0003c0015t0062g0212 a0004c0011t0009g0029	93	337	0.2760	-18	c.62- others(35): Show c.62-18149_62-18132delTCCCCCAGGAGCGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143524	CTCCTGGG others(11): Show CTCCTGGGGGACAGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp2 others(76): Show HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp1 HG02055.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA19007.hp2 NA19030.hp1 NA19081.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0066 a0001c0001t0071 a0001c0001t0084 a0001c0001t0090 a0001c0001t0091 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0038 a0001c0002t0042 a0001c0002t0060 a0001c0002t0085 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0052 a0001c0003t0054 a0001c0006t0047 a0005c0008t0020	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0098 others(76): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0002g0081 a0001c0001t0002g0138 a0001c0001t0002g0151 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0223 a0001c0001t0003g0129 a0001c0001t0003g0207 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0004g0268 a0001c0001t0004g0313 a0001c0001t0004g0332 a0001c0001t0005g0269 a0001c0001t0005g0283 a0001c0001t0005g0320 a0001c0001t0006g0075 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0006g0118 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0007g0326 a0001c0001t0008g0012 a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0009g0018 a0001c0001t0009g0032 a0001c0001t0009g0036 a0001c0001t0010g0300 a0001c0001t0010g0310 a0001c0001t0011g0167 a0001c0001t0013g0028 a0001c0001t0014g0097 a0001c0001t0017g0113 a0001c0001t0018g0111 a0001c0001t0020g0136 a0001c0001t0021g0284 a0001c0001t0028g0122 a0001c0001t0029g0177 a0001c0001t0034g0003 a0001c0001t0035g0014 a0001c0001t0039g0010 a0001c0001t0040g0002 a0001c0001t0043g0008 a0001c0001t0045g0247 a0001c0001t0066g0236 a0001c0001t0071g0185 a0001c0001t0084g0330 a0001c0001t0090g0301 a0001c0001t0091g0286 a0001c0002t0001g0110 a0001c0002t0002g0066 a0001c0002t0005g0305 a0001c0002t0038g0013 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0002t0085g0328 a0001c0003t0016g0163 a0001c0003t0016g0229 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0052g0220 a0001c0003t0054g0231 a0001c0006t0047g0227 a0005c0008t0020g0132	79	337	0.2344	-18	c.62- others(35): Show c.62-18175_62-18158delATGAGCTGTCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146710	CTGCCACT others(11): Show CTGCCACTACTGCCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	337	0.0030	-18	c.62- others(35): Show c.62-21361_62-21344delATGGTGGCAGTAGTGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34209743	GGGGGTAG others(11): Show GGGGGTAGGGGTGGGGGTA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19000.hp1 NA19002.hp1 others(1): Show NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19056.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0011 a0001c0001 a0002c0002 a0005c0011	a0001c0001t0001 a0002c0002t0002 a0005c0011t0001 a0001c0001t0001 a0002c0002t0002 a0005c0011t0001	a0001c0001t0001g0063 a0001c0001t0001g0103 a0002c0002t0002g0196 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0103 a0002c0002t0002g0196 a0005c0011t0001g0064	4	246	0.0163	-18	c.884 others(35): Show c.884-5071_884-5054delTACCCCCACCCCTACCCC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107389834	ATGTGTGT others(11): Show ATGTGTGTGTGTTTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp1 HG02615.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0014 a0003c0008t0011 a0001c0001t0014 a0003c0008t0011	a0001c0001t0014g0154 a0003c0008t0011g0153 a0001c0001t0014g0154 a0003c0008t0011g0153	2	186	0.0108	-18	c.113 others(39): Show c.1135+69771_1135+69788delTTGTGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107464206	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03579.hp2 HG02109.hp2 HG03579.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0025 a0001c0001 a0012c0025	a0001c0001t0002 a0012c0025t0002 a0001c0001t0002 a0012c0025t0002	a0001c0001t0002g0083 a0012c0025t0002g0079 a0001c0001t0002g0083 a0012c0025t0002g0079	2	186	0.0108	-18	c.113 others(39): Show c.1136-56244_1136-56227delGTGTGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01361.hp2 others(10): Show HG00423.hp1 HG00621.hp1 HG01361.hp2 HG02015.hp2 HG02738.hp2 HG03492.hp2 HG03942.hp1 NA18747.hp2 NA18942.hp2 NA18981.hp2 NA18989.hp2 NA19087.hp1 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0016	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0003c0006 a0008c0013 a0016c0019	a0001c0001t0001 a0002c0002t0004 a0003c0004t0003 others(6): Show a0001c0001t0001 a0002c0002t0004 a0003c0004t0003 a0003c0004t0004 a0003c0004t0022 a0003c0006t0002 a0003c0006t0005 a0008c0013t0008 a0016c0019t0008	a0001c0001t0001g0037 a0002c0002t0004g0061 a0003c0004t0003g0035 others(10): Show a0001c0001t0001g0037 a0002c0002t0004g0061 a0003c0004t0003g0035 a0003c0004t0003g0038 a0003c0004t0003g0165 a0003c0004t0004g0003 a0003c0004t0022g0041 a0003c0006t0002g0129 a0003c0006t0005g0132 a0003c0006t0005g0144 a0003c0006t0005g0149 a0008c0013t0008g0073 a0016c0019t0008g0020	13	186	0.0699	-18	c.113 others(39): Show c.1136-38576_1136-38559delCTCTCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107528825	CATGGTGA others(11): Show CATGGTGATGATGATGGTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	186	0.0054	-18	c.128 others(37): Show c.1285+8205_1285+8222delGTGATGGTGATGATGATG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107637786	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20905.hp2 HG02735.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0033 a0001c0003 a0002c0033	a0001c0003t0002 a0002c0033t0001 a0001c0003t0002 a0002c0033t0001	a0001c0003t0002g0146 a0002c0033t0001g0068 a0001c0003t0002g0146 a0002c0033t0001g0068	2	186	0.0108	-18	c.273 others(37): Show c.2737+2427_2737+2444delTGTGTGTGTGTGTGTGTG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp2 HG02647.hp2 others(2): Show HG00733.hp1 HG01358.hp2 HG02647.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0031 a0001c0004t0033 a0001c0004t0005 a0001c0004t0031 a0001c0004t0033	a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 others(2): Show a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 a0001c0004t0031g0129 a0001c0004t0033g0298	5	299	0.0167	-18	c.627 others(37): Show c.6274+1748_6274+1765delGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp2 HG04204.hp1 HG01891.hp1 HG03041.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0001t0018 a0001c0015t0001 a0001c0001t0003 a0001c0001t0018 a0001c0015t0001	a0001c0001t0003g0052 a0001c0001t0018g0002 a0001c0015t0001g0148 a0001c0001t0003g0052 a0001c0001t0018g0002 a0001c0015t0001g0148	3	299	0.0100	-18	c.507 others(37): Show c.5079+5260_5079+5277delTATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202698	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0297 a0001c0002t0034g0297	1	299	0.0033	-18	c.405 others(37): Show c.4057-2233_4057-2216delGTGTATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260284	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0230 a0001c0001t0026g0230	1	299	0.0033	-18	c.133 others(35): Show c.1330-772_1330-755delAAAAAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268725	CTATCTAT others(11): Show CTATCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp1 others(61): Show HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18969.hp2 NA18972.hp1 NA18977.hp2 NA18984.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19083.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0009t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(61): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0006g0189 a0001c0001t0007g0073 a0001c0001t0007g0093 a0001c0001t0007g0140 a0001c0001t0009g0031 a0001c0001t0015g0226 a0001c0001t0015g0271 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0009t0001g0261	64	299	0.2141	-18	c.111 others(37): Show c.1119+2008_1119+2025delTAGATAGATAGATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268729	CTATCTAT others(11): Show CTATCTATCTATCTATATA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19085.hp2 HG04228.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0207 a0001c0001t0017g0001 a0001c0001t0006g0207 a0001c0001t0017g0001	2	299	0.0067	-18	c.111 others(37): Show c.1119+2004_1119+2021delTATATAGATAGATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02976.hp1 others(3): Show HG01891.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0009 a0034	a0001c0105 a0001c0106 a0002c0006 others(3): Show a0001c0105 a0001c0106 a0002c0006 a0007c0104 a0009c0103 a0034c0102	a0001c0105t0004 a0001c0106t0001 a0002c0006t0005 others(3): Show a0001c0105t0004 a0001c0106t0001 a0002c0006t0005 a0007c0104t0004 a0009c0103t0004 a0034c0102t0018	a0001c0105t0004g0296 a0001c0106t0001g0293 a0002c0006t0005g0294 others(3): Show a0001c0105t0004g0296 a0001c0106t0001g0293 a0002c0006t0005g0294 a0007c0104t0004g0183 a0009c0103t0004g0165 a0034c0102t0018g0195	6	308	0.0195	-18	c.787 others(33): Show c.787-259_787-242delATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132641590	AGAAGAAG others(11): Show AGAAGAAGAAGAAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0153 a0002c0005t0001g0153	1	316	0.0032	-18	c.537 others(33): Show c.537+364_537+381delCTCCTCTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACADL_chr2_210182923_210230447	210184989	GACACACA others(11): Show GACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG01884.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0040 a0001c0001t0001g0041	2	274	0.0073	-18	c.39 others(29): Show c.3954_*3971delGTGTGTGTGTGTGTGTGT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding		2933		chr2	TogoVar
ACADM_chr1_75719709_75768679	75737279	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	364	0.0028	-18	c.468 others(35): Show c.468+2439_468+2456delATATATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02897.hp1 others(6): Show HG02055.hp2 HG02895.hp1 HG02897.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0292 a0001c0004t0005g0293 a0001c0004t0005g0294 others(6): Show a0001c0004t0005g0292 a0001c0004t0005g0293 a0001c0004t0005g0294 a0001c0004t0005g0295 a0001c0004t0005g0296 a0001c0004t0005g0297 a0001c0004t0005g0298 a0001c0004t0005g0299 a0001c0004t0005g0300	9	364	0.0247	-18	c.946 others(33): Show c.946-559_946-542delAAAAAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045131	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02738.hp2 HG02145.hp2 HG02738.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0006 a0001c0001t0001 a0003c0004t0006	a0001c0001t0001g0232 a0003c0004t0006g0186 a0001c0001t0001g0232 a0003c0004t0006g0186	2	374	0.0054	-18	c.900 others(33): Show c.900+670_900+687delATATATATATATATATAT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACADS_chr12_120720826_120745008	120733590	AAATGGTG others(11): Show AAATGGTGCCTGCTGAAAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0214 a0002c0004t0002g0214	1	426	0.0024	-18	c.211 others(35): Show c.211-3395_211-3378delAATGGTGCCTGCTGAAAT	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	2/9			chr12	TogoVar
ACADS_chr12_120720826_120745008	120735995	ATCCCTGT others(11): Show ATCCCTGTCCCCGTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01884.hp2 others(9): Show HG01168.hp2 HG01169.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0006 a0005c0008 a0007c0020 a0001c0006 a0005c0008 a0007c0020	a0001c0006t0005 a0001c0006t0009 a0001c0006t0011 others(2): Show a0001c0006t0005 a0001c0006t0009 a0001c0006t0011 a0005c0008t0005 a0007c0020t0005	a0001c0006t0005g0176 a0001c0006t0005g0178 a0001c0006t0005g0189 others(9): Show a0001c0006t0005g0176 a0001c0006t0005g0178 a0001c0006t0005g0189 a0001c0006t0005g0194 a0001c0006t0005g0195 a0001c0006t0005g0197 a0001c0006t0009g0172 a0001c0006t0009g0173 a0001c0006t0011g0232 a0005c0008t0005g0175 a0005c0008t0005g0177 a0007c0020t0005g0188	12	426	0.0282	-18	c.211 others(33): Show c.211-962_211-945delCGTCCCTGTCCCTGTCCC	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP2_chr3_195269745_195448020	195424281	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01928.hp2 HG01934.hp2 others(4): Show HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0015 a0001c0002t0004 a0001c0002t0015	a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 others(4): Show a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0015g0029	7	324	0.0216	-18	c.53+ others(35): Show c.53+18496_53+18513delAAAAAAAAAAAAAAAATA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195424283	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00673.hp1 others(22): Show HG00438.hp2 HG00558.hp2 HG00673.hp1 HG01358.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG04184.hp1 NA18747.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0025	a0001c0002t0001g0043 a0001c0002t0004g0030 a0001c0002t0004g0034 others(22): Show a0001c0002t0001g0043 a0001c0002t0004g0030 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0205 a0001c0002t0004g0319 a0001c0002t0015g0038 a0001c0002t0015g0039 a0001c0002t0025g0037	25	324	0.0772	-18	c.53+ others(35): Show c.53+18494_53+18511delAAAAAAAAAAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288204	TGTGTCTC others(11): Show TGTGTCTCTGCTCCGTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	295	0.0034	-18	c.53 others(29): Show c.5342_*5359delGGGACGGAGCAGAGACAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4186		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288275	CCCCGAGT others(11): Show CCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	295	0.0034	-18	c.52 others(29): Show c.5271_*5288delACGGAGCAGAGACTCGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288356	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	295	0.0034	-18	c.51 others(29): Show c.5190_*5207delGGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4034		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288507	CCCGTCCC others(11): Show CCCGTCCCGTGTCCCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	295	0.0034	-18	c.50 others(29): Show c.5039_*5056delAGCAGGGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3883		chr1	TogoVar

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