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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASTN2_chr9_116418112_117420057	117225535	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02965.hp2 HG01496.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0002 a0001c0014t0017 a0001c0003t0002 a0001c0014t0017	a0001c0003t0002g0044 a0001c0014t0017g0050 a0001c0003t0002g0044 a0001c0014t0017g0050	2	102	0.0196	-12	c.631 others(31): Show c.631-10805_631-10794delTATATATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117244571	AAGGGAGG others(5): Show AAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0050 a0001c0014t0017g0050	1	102	0.0098	-12	c.631 others(31): Show c.631-29841_631-29830delCCCTCCCTCCCT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117308213	AAATCAAT others(5): Show AAATCAATCAATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01243.hp1 others(15): Show HG00099.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG02004.hp1 HG02698.hp1 HG03130.hp2 HG03239.hp1 NA18959.hp2 NA19012.hp1 NA19066.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0022 a0007c0018	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0003 a0001c0005t0005 a0001c0008t0005 a0001c0009t0008 a0001c0022t0001 a0007c0018t0003	a0001c0001t0003g0090 a0001c0002t0002g0023 a0001c0002t0002g0053 others(15): Show a0001c0001t0003g0090 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0041 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0003g0030 a0001c0005t0005g0076 a0001c0008t0005g0081 a0001c0009t0008g0088 a0001c0022t0001g0020 a0007c0018t0003g0031	18	102	0.1765	-12	c.443 others(31): Show c.443-16712_443-16701delGATTGATTGATT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117340331	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp1 HG01515.hp1 others(2): Show HG01258.hp2 HG01496.hp1 HG01515.hp1 HG02451.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0028 a0001c0002t0001g0058 a0001c0002t0001g0067 others(2): Show a0001c0001t0001g0028 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0003g0068 a0001c0003t0002g0044	5	102	0.0490	-12	c.443 others(31): Show c.443-48830_443-48819delTTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117364950	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	102	0.0098	-12	c.442 others(31): Show c.442+49535_442+49546delGTGTGTGTGTGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117364988	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0007 a0001c0001t0016 a0001c0003t0007	a0001c0001t0016g0075 a0001c0003t0007g0074 a0001c0001t0016g0075 a0001c0003t0007g0074	2	102	0.0196	-12	c.442 others(31): Show c.442+49497_442+49508delTTGTGTGTGTGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117406857	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0081 a0001c0008t0005g0081	1	102	0.0098	-12	c.442 others(29): Show c.442+7628_442+7639delGTGTGTGTGTGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32397250	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	282	0.0036	-12	c.252 others(31): Show c.252+28147_252+28158delTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32398591	TTTTTTTT others(5): Show TTTTTTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02109.hp2 others(6): Show HG00741.hp2 HG01109.hp2 HG02109.hp2 HG02145.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0004 a0001c0018t0001 a0001c0001t0001 a0001c0001t0004 a0001c0018t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0004g0066 a0001c0018t0001g0070	9	282	0.0319	-12	c.252 others(31): Show c.252+29476_252+29487delGTTTGTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32399745	CTCTTTTT others(5): Show CTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0257 a0001c0002t0005g0257	1	282	0.0036	-12	c.253 others(31): Show c.253-28381_253-28370delCTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32418809	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp2 others(19): Show HG00140.hp2 HG00639.hp2 HG00733.hp2 HG01361.hp2 HG01515.hp1 HG01934.hp2 HG02055.hp1 HG02135.hp2 HG02280.hp2 HG02647.hp1 HG02897.hp2 HG03209.hp2 HG03927.hp1 HG04199.hp2 HG06807.hp2 NA18940.hp1 NA18957.hp1 NA18968.hp1 NA18979.hp1 NA19082.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0002 a0001c0005 a0010c0013 others(1): Show a0001c0002 a0001c0005 a0010c0013 a0014c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0005t0001 a0010c0013t0002 a0014c0023t0002	a0001c0002t0001g0241 a0001c0002t0002g0023 a0001c0002t0002g0025 others(19): Show a0001c0002t0001g0241 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0196 a0001c0002t0002g0202 a0001c0002t0002g0207 a0001c0002t0002g0216 a0001c0002t0002g0223 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0254 a0001c0002t0007g0029 a0001c0002t0007g0261 a0001c0002t0007g0262 a0001c0002t0007g0263 a0001c0005t0001g0185 a0010c0013t0002g0205 a0014c0023t0002g0272	22	282	0.0780	-12	c.253 others(29): Show c.253-9289_253-9278delTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32426542	TTTTTTTT others(5): Show TTTTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0214 a0001c0002t0010g0214	1	282	0.0036	-12	c.253 others(29): Show c.253-1578_253-1567delCTTTCTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32428652	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	282	0.0036	-12	c.471 others(27): Show c.471+246_471+257delTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25784053	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(32): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02148.hp1 HG02523.hp1 HG02602.hp1 HG03491.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18941.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18972.hp1 NA18975.hp2 NA19011.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0049 a0001c0012t0032	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(32): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0009g0022 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0043 a0001c0001t0010g0198 a0001c0001t0014g0020 a0001c0001t0014g0048 a0001c0001t0014g0072 a0001c0001t0036g0040 a0001c0001t0037g0019 a0001c0001t0038g0041 a0001c0001t0049g0007 a0001c0012t0032g0016	35	222	0.1577	-12	c.404 others(31): Show c.404-12525_404-12514delTTTATTTATTTA		ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12						chr2	TogoVar
ASXL2_chr2_25728753_25883487	25811055	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0219 a0001c0001t0019g0219	1	222	0.0045	-12	c.144 others(29): Show c.144-4730_144-4719delGTGTGTGTGTGT		ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12						chr2	TogoVar
ASXL3_chr18_33573219_33756195	33578458	CCCGCCGC others(5): Show CCCGCCGCCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01109.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG01109.hp2 HG02976.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0015 a0002c0002t0030 a0004c0004t0032 a0001c0001t0015 a0002c0002t0030 a0004c0004t0032	a0001c0001t0015g0187 a0001c0001t0015g0189 a0002c0002t0030g0179 others(1): Show a0001c0001t0015g0187 a0001c0001t0015g0189 a0002c0002t0030g0179 a0004c0004t0032g0059	4	220	0.0182	-12	c.-14 others(21): Show c.-144_-133delGCCGCCGCCGCC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12				133	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33616398	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0199 a0001c0001t0014g0199	1	220	0.0046	-12	c.137 others(29): Show c.137+8742_137+8753delGTGTGTGTGTGT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33636305	TCAACAAC others(5): Show TCAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01433.hp2 HG01928.hp1 others(17): Show HG01071.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02602.hp1 HG02738.hp1 HG03017.hp2 HG03669.hp1 HG03831.hp1 HG04184.hp2 NA18948.hp2 NA18970.hp2 NA18975.hp1 NA18989.hp1 NA19057.hp2 NA19076.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0016 a0004c0004 a0001c0001 a0001c0016 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0060 a0001c0001t0068 a0001c0016t0062 a0004c0004t0013	a0001c0001t0001g0071 a0001c0001t0002g0207 a0001c0001t0002g0208 others(17): Show a0001c0001t0001g0071 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0004g0153 a0001c0001t0006g0090 a0001c0001t0006g0197 a0001c0001t0006g0203 a0001c0001t0006g0217 a0001c0001t0011g0211 a0001c0001t0014g0199 a0001c0001t0014g0201 a0001c0001t0014g0212 a0001c0001t0021g0198 a0001c0001t0021g0213 a0001c0001t0060g0193 a0001c0001t0068g0142 a0001c0016t0062g0200 a0004c0004t0013g0202	20	220	0.0909	-12	c.138 others(29): Show c.138-8571_138-8560delACAACAACAACA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33636337	AACAACAA others(5): Show AACAACAACAGCC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01358.hp1 others(16): Show HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01981.hp2 HG02273.hp2 HG02300.hp1 HG02647.hp2 HG02965.hp1 HG03471.hp2 NA18948.hp1 NA18959.hp2 NA18971.hp2 NA18982.hp1 NA18998.hp1 NA19030.hp1 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0018 a0002c0002 others(1): Show a0001c0001 a0001c0018 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0037 a0001c0001t0071 a0001c0018t0001 a0002c0002t0033 a0003c0003t0059 a0003c0003t0073 a0003c0003t0079	a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0083 others(16): Show a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0191 a0001c0001t0011g0081 a0001c0001t0011g0206 a0001c0001t0012g0016 a0001c0001t0016g0192 a0001c0001t0016g0204 a0001c0001t0037g0196 a0001c0001t0071g0118 a0001c0018t0001g0070 a0002c0002t0033g0194 a0003c0003t0059g0005 a0003c0003t0073g0009 a0003c0003t0079g0007	19	220	0.0864	-12	c.138 others(29): Show c.138-8529_138-8518delACAACAGCCACA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33713236	TTGTTTTG others(5): Show TTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0142 a0001c0001t0068g0142	1	220	0.0046	-12	c.880 others(31): Show c.880-18730_880-18719delGTTTTGTTTTGT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117370804	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	306	0.0033	-12	c.105 others(31): Show c.1056-2099_1056-2088delCACACACACACA		ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12						chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379158	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 HG02109.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0058 a0001c0001t0003g0059	2	306	0.0065	-12	c.105 others(29): Show c.1055+768_1055+779delGTATATATATAT		ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12						chr7	TogoVar
ASZ1_chr7_117358222_117432493	117387307	TCAACAAC others(5): Show TCAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG03041.hp2 others(3): Show HG01891.hp1 HG02145.hp2 HG03041.hp2 HG03209.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195	6	306	0.0196	-12	c.441 others(29): Show c.441-1510_441-1499delTTGTTGTTGTTG		ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	4/12						chr7	TogoVar
ASZ1_chr7_117358222_117432493	117412039	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04184.hp1 NA18940.hp1 others(4): Show HG02040.hp2 HG04184.hp1 NA18940.hp1 NA18963.hp1 NA18972.hp2 NA19054.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0209 a0001c0001t0001g0261 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0209 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264	7	306	0.0229	-12	c.440 others(29): Show c.440+8112_440+8123delACACACACACAC		ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	4/12						chr7	TogoVar
ATAD1_chr10_87746512_87823226	87791804	CATCCTCA others(5): Show CATCCTCAAAATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02622.hp1 others(8): Show HG00639.hp2 HG02257.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 others(8): Show a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316	11	360	0.0306	-12	c.261 others(27): Show c.261+841_261+852delTATTTTGAGGAT		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	3/9						chr10	TogoVar
ATAD1_chr10_87746512_87823226	87808293	AAAGTAAA others(5): Show AAAGTAAACAAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0027	1	360	0.0028	-12	c.162 others(29): Show c.162+6133_162+6144delCTTTGTTTACTT		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD1_chr10_87746512_87823226	87809641	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(95): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02083.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19006.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0003c0003t0002	a0001c0001t0001g0323 a0001c0001t0002g0038 a0001c0001t0002g0114 others(95): Show a0001c0001t0001g0323 a0001c0001t0002g0038 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0003g0031 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0008g0060 a0001c0001t0012g0317 a0001c0001t0019g0089 a0003c0003t0002g0116	98	360	0.2722	-12	c.162 others(29): Show c.162+4785_162+4796delTAAATAAATAAA		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23781333	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01358.hp1 others(28): Show HG01109.hp1 HG01167.hp1 HG01358.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 others(28): Show a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0219 a0001c0001t0003g0007 a0001c0004t0001g0166 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0192 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0003g0132 a0002c0003t0003g0138 a0002c0003t0006g0136 a0002c0003t0006g0137	31	246	0.1260	-12	c.313 others(31): Show c.3133+1524_3133+1535delATTTATTTATTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	22/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23811014	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp2 others(74): Show HG00099.hp2 HG00280.hp1 HG00544.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG02027.hp2 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18979.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0016 a0006c0011 a0008c0012	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0006t0001 a0001c0016t0001 a0006c0011t0001 a0008c0012t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(74): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0011g0212 a0001c0004t0001g0166 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0192 a0001c0004t0001g0220 a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0016t0001g0178 a0006c0011t0001g0189 a0008c0012t0001g0190	77	246	0.3130	-12	c.226 others(29): Show c.2268-524_2268-513delGTTTGTTTGTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	17/27						chr2	TogoVar
ATAD2_chr8_123314850_123401447	123369906	ATCTTCAT others(5): Show ATCTTCATCATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG01192.hp1 HG01168.hp2 HG01192.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0133 a0005c0010t0001g0135 a0005c0010t0001g0133 a0005c0010t0001g0135	2	278	0.0072	-12	c.834 others(19): Show c.834_845delAGATGATGAAGA	p.Glu others(13): Show p.Glu278_Glu281del	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	7/28	935/5547	834/4173	278/1390			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389976	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03704.hp1 HG03471.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0013 a0001c0001t0001 a0002c0008t0013	a0001c0001t0001g0203 a0002c0008t0013g0160 a0001c0001t0001g0203 a0002c0008t0013g0160	2	278	0.0072	-12	c.171 others(29): Show c.171+6199_171+6210delAAAATATATATA		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27						chr8	TogoVar
ATAD3A_chr1_1507162_1539685	1512495	GGCGCGGG others(5): Show GGCGCGGGCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp2 HG04184.hp1 others(5): Show HG02630.hp1 HG03041.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp1 NA21309.hp1	a0001 a0014 a0019 a0001 a0014 a0019	a0001c0003 a0014c0022 a0019c0039 a0001c0003 a0014c0022 a0019c0039	a0001c0003t0001 a0014c0022t0001 a0019c0039t0030 a0001c0003t0001 a0014c0022t0001 a0019c0039t0030	a0001c0003t0001g0017 a0001c0003t0001g0043 a0001c0003t0001g0310 others(3): Show a0001c0003t0001g0017 a0001c0003t0001g0043 a0001c0003t0001g0310 a0001c0003t0001g0311 a0014c0022t0001g0017 a0019c0039t0030g0312	8	420	0.0191	-12	c.205 others(25): Show c.205+24_205+35delCGCGGGCGGGCG		ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3A_chr1_1507162_1539685	1521298	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02809.hp2 others(6): Show HG02622.hp2 HG02630.hp1 HG02809.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2 HG06807.hp1 HG06807.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0014	a0001c0003 a0005c0009 a0006c0017 others(1): Show a0001c0003 a0005c0009 a0006c0017 a0014c0022	a0001c0003t0001 a0005c0009t0008 a0006c0017t0008 others(1): Show a0001c0003t0001 a0005c0009t0008 a0006c0017t0008 a0014c0022t0001	a0001c0003t0001g0017 a0001c0003t0001g0311 a0005c0009t0008g0045 others(4): Show a0001c0003t0001g0017 a0001c0003t0001g0311 a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 a0006c0017t0008g0018 a0014c0022t0001g0017	9	420	0.0214	-12	c.750 others(27): Show c.750+701_750+712delAAAAAAAAAAAA		ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3B_chr1_1466765_1502848	1469099	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0099 a0001c0008t0027g0099	1	276	0.0036	-12	c.-27 others(23): Show c.-2785_-2774delAAAAAAAAAAAA		ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding					2665		chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0021 a0021	a0021c0051 a0021c0051	a0021c0051t0065 a0021c0051t0065	a0021c0051t0065g0321 a0021c0051t0065g0321	1	410	0.0024	-12	c.59 others(21): Show c.595_*606delAAAAAAAAAAAA		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12				595	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1471853	CCGGCGGC others(5): Show CCGGCGGCGGTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0142 a0001c0004t0014g0142	1	410	0.0024	-12	c.33 others(23): Show c.3324_*3335delCGGCGGCGGTAG		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding					1691		chr1	TogoVar
ATAD5_chr17_30826966_30900869	30850821	ATTTATAT others(5): Show ATTTATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03209.hp1 HG02258.hp1 HG03139.hp2 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0066 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0066 a0005c0005t0001g0068 a0005c0005t0001g0069	3	286	0.0105	-12	c.245 others(31): Show c.2451-4320_2451-4309delTTATATATTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850831	TTTTATAT others(5): Show TTTTATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0123 a0006c0006t0001g0123	1	286	0.0035	-12	c.245 others(31): Show c.2451-4310_2451-4299delTTATATATATAT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850863	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0064 a0006c0009t0001g0064	1	286	0.0035	-12	c.245 others(31): Show c.2451-4278_2451-4267delATATATTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30872529	CTTTTTCT others(5): Show CTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0282 a0001c0007t0001g0282	1	286	0.0035	-12	c.360 others(31): Show c.3607+2896_3607+2907delTTTTTCTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30872547	CTTTTTTC others(5): Show CTTTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0089 a0006c0006t0001g0089	1	286	0.0035	-12	c.360 others(31): Show c.3607+2916_3607+2927delTTTTCTTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30878716	GTGTTTTT others(5): Show GTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp1 HG04115.hp1 others(6): Show HG00639.hp1 HG02056.hp1 HG04115.hp1 NA18948.hp1 NA19006.hp1 NA19056.hp2 NA19085.hp1 NA20300.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0002 a0002c0002t0009 a0002c0012t0002 a0002c0002t0002 a0002c0002t0009 a0002c0012t0002	a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0032 others(6): Show a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0032 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0009g0061 a0002c0012t0002g0012	9	286	0.0315	-12	c.401 others(29): Show c.4012+622_4012+633delGTTTTTTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30884424	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0062 a0003c0003t0004g0062	1	286	0.0035	-12	c.407 others(31): Show c.4078-2757_4078-2746delTTTTTTTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3879497	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01123.hp1 others(19): Show HG00738.hp1 HG01069.hp2 HG01123.hp1 HG01192.hp1 HG01928.hp1 HG01943.hp1 HG02040.hp2 HG02293.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA18952.hp1 NA18988.hp1 NA18989.hp2 NA19010.hp1 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0027	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0050 others(19): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0202 a0001c0001t0002g0012 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0089 a0001c0001t0002g0163 a0001c0001t0002g0383 a0001c0001t0003g0036 a0001c0001t0005g0064 a0001c0001t0005g0084 a0001c0001t0014g0161 a0001c0001t0027g0048	22	384	0.0573	-12	c.-15 others(23): Show c.-1552_-1541delAAAAAAAAAAAG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding					1187		chr19	TogoVar
ATCAY_chr19_3875685_3933082	3885618	GGGAGGGG others(5): Show GGGAGGGGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18988.hp2 NA18991.hp2 HG00438.hp1 NA18988.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0168 a0001c0001t0002g0169 a0001c0001t0005g0173 a0001c0001t0001g0168 a0001c0001t0002g0169 a0001c0001t0005g0173	3	384	0.0078	-12	c.-41 others(25): Show c.-41-98_-41-87delACGGAGGGGGAG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3923443	GATGGATG others(5): Show GATGGATGGATGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02615.hp1 others(8): Show HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03669.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 others(3): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0038	a0001c0001t0008g0001 a0001c0001t0008g0090 a0001c0001t0008g0098 others(8): Show a0001c0001t0008g0001 a0001c0001t0008g0090 a0001c0001t0008g0098 a0001c0001t0008g0261 a0001c0001t0015g0160 a0001c0001t0015g0256 a0001c0001t0018g0099 a0001c0001t0018g0122 a0001c0001t0022g0234 a0001c0001t0023g0339 a0001c0001t0038g0285	11	384	0.0287	-12	c.110 others(31): Show c.1107-1139_1107-1128delATGGATGGATGA		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12						chr19	TogoVar
ATCAY_chr19_3875685_3933082	3923968	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02615.hp1 others(8): Show HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03669.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 others(3): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0038	a0001c0001t0008g0001 a0001c0001t0008g0090 a0001c0001t0008g0098 others(8): Show a0001c0001t0008g0001 a0001c0001t0008g0090 a0001c0001t0008g0098 a0001c0001t0008g0261 a0001c0001t0015g0160 a0001c0001t0015g0256 a0001c0001t0018g0099 a0001c0001t0018g0122 a0001c0001t0022g0234 a0001c0001t0023g0339 a0001c0001t0038g0285	11	384	0.0287	-12	c.110 others(29): Show c.1107-590_1107-579delTGGATGGATGGA		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATE1_chr10_121735424_121933031	121791055	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG04184.hp2 HG03490.hp2 HG03492.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0050 a0001c0002t0012g0051 a0001c0002t0012g0064 a0001c0002t0012g0050 a0001c0002t0012g0051 a0001c0002t0012g0064	3	320	0.0094	-12	c.125 others(29): Show c.1258-778_1258-767delACACACACACAC		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	10/11						chr10	TogoVar
ATE1_chr10_121735424_121933031	121794610	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	320	0.0031	-12	c.125 others(31): Show c.1258-4333_1258-4322delTTTTTTTTTTTT		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	10/11						chr10	TogoVar
ATE1_chr10_121735424_121933031	121846700	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(166): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0002t0016 a0001c0002t0021 a0001c0002t0022 a0001c0005t0007 a0001c0005t0009 a0001c0009t0001 a0001c0009t0023	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(166): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0146 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0003g0082 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0206 a0001c0001t0005g0016 a0001c0001t0007g0145 a0001c0001t0007g0170 a0001c0001t0010g0157 a0001c0001t0013g0001 a0001c0001t0013g0002 a0001c0001t0015g0208 a0001c0001t0019g0143 a0001c0001t0020g0190 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0076 a0001c0002t0001g0092 a0001c0002t0001g0150 a0001c0002t0001g0158 a0001c0002t0001g0171 a0001c0002t0001g0175 a0001c0002t0001g0202 a0001c0002t0001g0244 a0001c0002t0001g0258 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0002g0041 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0147 a0001c0002t0002g0247 a0001c0002t0002g0253 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0282 a0001c0002t0003g0003 a0001c0002t0003g0037 a0001c0002t0003g0078 a0001c0002t0003g0173 a0001c0002t0003g0271 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0077 a0001c0002t0004g0093 a0001c0002t0005g0022 a0001c0002t0005g0079 a0001c0002t0005g0080 a0001c0002t0005g0207 a0001c0002t0006g0211 a0001c0002t0007g0246 a0001c0002t0010g0014 a0001c0002t0010g0094 a0001c0002t0012g0050 a0001c0002t0012g0051 a0001c0002t0012g0064 a0001c0002t0016g0156 a0001c0002t0021g0034 a0001c0002t0022g0243 a0001c0005t0007g0317 a0001c0005t0009g0314 a0001c0005t0009g0318 a0001c0005t0009g0319 a0001c0009t0001g0316 a0001c0009t0023g0315	169	320	0.5281	-12	c.976 others(29): Show c.976-5449_976-5438delTTTATTTATTTA		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11						chr10	TogoVar

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