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
ACSF3_chr16_89088852_89161233	89148546	C C	CTGCTGTT others(23): Show CTGCTGTTGTGTGCCTGCAACTTTTCTAGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0246 a0001c0005t0009g0246	1	368	0.0027	30	c.161 others(49): Show c.1613+2498_1613+2527dupTGCTGTTGTGTGCCTGCAACTTTTCT AGGT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423217	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19085.hp1 HG00099.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0292 a0001c0001t0001g0225 a0001c0001t0001g0292	2	364	0.0055	30	c.159 others(47): Show c.1593+777_1593+778insTATATATATATATATATATATATATATA TA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	364	0.0028	30	c.159 others(47): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18972.hp2 NA19000.hp2 NA18940.hp2 NA18972.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0215 a0001c0001t0001g0290 a0001c0001t0001g0291	3	364	0.0082	30	c.159 others(47): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0226 a0001c0005t0001g0226	1	318	0.0031	30	c.612 others(45): Show c.612-801_612-800insATATATATATATTTTTTTTTTTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20458904	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0007 a0003c0026t0007	a0003c0026t0007g0170 a0003c0026t0007g0170	1	436	0.0023	30	c.-8- others(45): Show c.-8-1203_-8-1202insTATATATATATATATATATATATATGTATA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	1/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0144 a0003c0003t0003g0144	1	434	0.0023	30	c.130 others(47): Show c.1308+626_1308+627insTAATAATAATAATAATAATAATAATAAT AA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTCTT others(23): Show TTTCTCTTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 NA18939.hp2 others(4): Show HG03195.hp1 HG03486.hp1 NA18939.hp2 NA18940.hp2 NA18954.hp1 NA18974.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0284 others(4): Show a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0303	7	312	0.0224	30	c.375 others(49): Show c.375-13670_375-13669insTCTTTCTTTCCTTCCTTCCTTCCTTC CTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(23): Show TTTCTTTCTCTTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0145 a0002c0004t0001g0150 a0002c0004t0001g0145 a0002c0004t0001g0150	2	312	0.0064	30	c.375 others(49): Show c.375-13670_375-13669insTTTCTCTTTCTTTCCTTCCTTCCTTC CTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81213793	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	290	0.0035	30	c.135 others(49): Show c.1355-3086_1355-3057dupTCTCTTCTCTTCTCTTCTCTTCTCTT CTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(23): Show TCTCTTCTCTTCTCTTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp2 others(15): Show HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01261.hp2 HG01891.hp2 HG01993.hp2 HG02080.hp1 HG02109.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp1 NA18955.hp1 NA18981.hp2 NA19003.hp1 NA19080.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0005t0005 a0001c0006t0011 a0002c0003t0005	a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 others(15): Show a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0261 a0001c0001t0003g0265 a0001c0001t0003g0288 a0001c0001t0004g0192 a0001c0001t0004g0232 a0001c0001t0012g0165 a0001c0001t0012g0188 a0001c0001t0013g0173 a0001c0005t0005g0245 a0001c0006t0011g0234 a0001c0006t0011g0254 a0002c0003t0005g0152 a0002c0003t0005g0155 a0002c0003t0005g0273 a0002c0003t0005g0277	18	290	0.0621	30	c.135 others(49): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTCCTCTC CTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(23): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0287 a0002c0004t0003g0287	1	290	0.0035	30	c.135 others(49): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTTCTCTC CTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932031	G G	GGATGATG others(23): Show GGATGATGATGATGATGATGATGATGATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03041.hp2 HG02109.hp2 HG02965.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0103	3	402	0.0075	30	c.31 others(41): Show c.3191_*3192insATCATCATCATCATCATCATCATCATCATC	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3042		chr10	TogoVar
ACTBL2_chr5_57475018_57487811	57487572	A A	ACCAAGCC others(23): Show ACCAAGCCCTGAGCCCAATCTCTGCCCAACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	30	c.-48 others(41): Show c.-4866_-4865insCGTTGGGCAGAGATTGGGCTCAGGGCTTGG	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding		4762		chr5	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA19086.hp2 HG02572.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0038 a0001c0002t0004g0281 a0001c0001t0008g0038 a0001c0002t0004g0281	2	416	0.0048	30	c.40 others(41): Show c.4066_*4067insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL8_chr1_17750333_17832063	17798161	T T	TGCGAAGC others(23): Show TGCGAAGCCGTGAAATGTGCAGTGAAACTAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp1 others(115): Show HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0016 a0002c0002 a0002c0004 a0002c0011 a0003c0007 a0005c0012 a0006c0014	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0008t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0009 a0002c0004t0001 a0002c0004t0004 a0002c0011t0005 a0003c0007t0001 a0005c0012t0001 a0006c0014t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 others(114): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0234 a0001c0001t0001g0330 a0001c0001t0001g0343 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0005g0043 a0001c0001t0005g0327 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0034 a0001c0003t0001g0048 a0001c0003t0001g0056 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0074 a0001c0003t0001g0079 a0001c0003t0001g0087 a0001c0003t0001g0094 a0001c0003t0001g0099 a0001c0003t0001g0110 a0001c0003t0001g0130 a0001c0003t0001g0133 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0188 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0217 a0001c0003t0001g0220 a0001c0003t0001g0222 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0262 a0001c0003t0001g0311 a0001c0003t0001g0316 a0001c0003t0001g0318 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0353 a0001c0003t0002g0205 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0003g0357 a0001c0006t0001g0128 a0001c0006t0001g0204 a0001c0006t0001g0231 a0001c0006t0001g0315 a0001c0006t0001g0321 a0001c0008t0001g0039 a0001c0008t0001g0109 a0001c0008t0001g0352 a0001c0016t0001g0228 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0035 a0002c0002t0001g0054 a0002c0002t0001g0064 a0002c0002t0001g0073 a0002c0002t0001g0083 a0002c0002t0001g0114 a0002c0002t0001g0147 a0002c0002t0001g0155 a0002c0002t0001g0201 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0226 a0002c0002t0001g0248 a0002c0002t0001g0266 a0002c0002t0001g0337 a0002c0002t0009g0227 a0002c0004t0001g0028 a0002c0004t0001g0036 a0002c0004t0001g0052 a0002c0004t0001g0076 a0002c0004t0001g0092 a0002c0004t0001g0106 a0002c0004t0001g0169 a0002c0004t0001g0320 a0002c0004t0001g0336 a0002c0004t0004g0236 a0002c0004t0004g0239 a0002c0004t0004g0240 a0002c0004t0004g0243 a0002c0011t0005g0042 a0002c0011t0005g0338 a0003c0007t0001g0200 a0005c0012t0001g0342 a0006c0014t0001g0223	118	366	0.3224	30	c.-24 others(49): Show c.-24-24821_-24-24820insAAGCCGTGAAATGTGCAGTGAAACTA AGCG	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18948.hp2 HG01167.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0100 a0001c0001t0002g0045 a0001c0001t0002g0100	2	284	0.0070	30	c.195 others(47): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68929006	A A	ATTCGTGG others(23): Show ATTCGTGGGAGAGGGCTGGAACTGTGGCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0019 a0002c0006 a0004c0008 a0005c0015 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0007 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0010t0002 a0001c0011t0001 a0001c0013t0001 a0001c0017t0004 a0001c0018t0001 a0001c0019t0001 a0002c0006t0004 a0004c0008t0003 a0005c0015t0001 a0006c0014t0002	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(229): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0005g0003 a0001c0001t0006g0004 a0001c0002t0002g0088 a0001c0002t0002g0122 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0150 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0168 a0001c0002t0003g0175 a0001c0002t0003g0180 a0001c0002t0003g0188 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0203 a0001c0002t0003g0208 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0002t0003g0257 a0001c0002t0003g0267 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0004g0008 a0001c0002t0004g0014 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0063 a0001c0002t0004g0065 a0001c0002t0004g0069 a0001c0002t0004g0085 a0001c0002t0004g0089 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0108 a0001c0002t0004g0121 a0001c0002t0004g0124 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0008g0149 a0001c0003t0001g0184 a0001c0003t0001g0238 a0001c0003t0001g0254 a0001c0003t0007g0104 a0001c0004t0004g0110 a0001c0005t0001g0199 a0001c0005t0001g0200 a0001c0005t0002g0123 a0001c0010t0002g0060 a0001c0011t0001g0179 a0001c0013t0001g0183 a0001c0017t0004g0044 a0001c0018t0001g0259 a0001c0019t0001g0260 a0002c0006t0004g0038 a0002c0006t0004g0111 a0004c0008t0003g0212 a0004c0008t0003g0223 a0005c0015t0001g0277 a0006c0014t0002g0117	234	284	0.8239	30	c.106 others(47): Show c.106-3335_106-3334insCGCGCCACAGTTCCAGCCCTCTCCCACG AA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68929042	G G	GGGAGAGG others(23): Show GGGAGAGGGCTGGAACTGTGGCGGGTTCGTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	284	0.0035	30	c.106 others(47): Show c.106-3371_106-3370insTACGAACCCGCCACAGTTCCAGCCCTCT CC	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02647.hp2 others(1): Show HG02109.hp2 HG02451.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0001 a0001c0001t0002g0079 a0001c0001t0001g0201 a0001c0001t0002g0001 a0001c0001t0002g0079	4	284	0.0141	30	c.106 others(49): Show c.106-24791_106-24790insTATATATACACACACACACACACACA CACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(23): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp1 HG03831.hp2 others(1): Show HG01258.hp2 HG01496.hp1 HG03831.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0287 a0001c0001t0001g0330 a0001c0001t0001g0331 others(1): Show a0001c0001t0001g0287 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0002t0002g0283	4	344	0.0116	30	c.448 others(45): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01258.hp2 HG01943.hp1 others(5): Show HG00639.hp2 HG01258.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02273.hp1 HG03669.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 a0001c0003t0006 a0001c0006t0002	a0001c0001t0001g0287 a0001c0001t0001g0328 a0001c0002t0007g0298 others(5): Show a0001c0001t0001g0287 a0001c0001t0001g0328 a0001c0002t0007g0298 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0006g0126 a0001c0003t0006g0131 a0001c0006t0002g0150	8	344	0.0233	30	c.876 others(43): Show c.876+83_876+84insTATATATATATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735837	G G	GCGGGCGG others(23): Show GCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	314	0.0032	30	c.64 others(41): Show c.6405_*6406insCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4249		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735843	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	314	0.0032	30	c.64 others(41): Show c.6411_*6412insGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4255		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735967	C C	CGGGGCGG others(23): Show CGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0284 a0001c0001t0017g0284	1	314	0.0032	30	c.65 others(41): Show c.6535_*6536insGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4379		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735973	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGTGGTTCTGCGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG03492.hp1 HG01261.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0274 a0001c0002t0001g0027 a0001c0002t0001g0274	2	314	0.0064	30	c.65 others(41): Show c.6541_*6542insGGGCGGGGCGGGGCGGTGGTTCTGCGGGCA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4385		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770194	T T	TATATATT others(23): Show TATATATTTATATAAATATATATAAATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	30	c.-67 others(39): Show c.-675_-674insTTAAATTTATATATATTTATATAAATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		634		chr3	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(23): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	338	0.0030	30	c.-75 others(39): Show c.-753_-752insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		628		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(23): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0284 a0001c0001t0028g0284	1	338	0.0030	30	c.-74 others(39): Show c.-744_-743insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19000.hp1 HG01192.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0058 a0002c0003t0002g0008 a0001c0002t0002g0058 a0002c0003t0002g0008	2	272	0.0074	30	c.63- others(47): Show c.63-15926_63-15925insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTTTCT others(23): Show CTTTTTCTTTCTTTCTTTCTTTGTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	272	0.0037	30	c.404 others(49): Show c.404+62889_404+62890insTTTTCTTTCTTTCTTTCTTTGTTTCT TTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01192.hp2 others(12): Show HG00738.hp2 HG01099.hp1 HG01192.hp2 HG01884.hp1 HG01993.hp1 HG02717.hp2 HG02895.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp2 HG04204.hp2 NA18964.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0010 others(2): Show a0001c0005 a0001c0008 a0001c0010 a0002c0002 a0002c0006	a0001c0005t0002 a0001c0005t0004 a0001c0005t0039 others(5): Show a0001c0005t0002 a0001c0005t0004 a0001c0005t0039 a0001c0008t0002 a0001c0008t0006 a0001c0010t0002 a0002c0002t0003 a0002c0006t0003	a0001c0005t0002g0033 a0001c0005t0002g0174 a0001c0005t0002g0194 others(12): Show a0001c0005t0002g0033 a0001c0005t0002g0174 a0001c0005t0002g0194 a0001c0005t0002g0205 a0001c0005t0002g0210 a0001c0005t0004g0352 a0001c0005t0039g0298 a0001c0008t0002g0304 a0001c0008t0006g0349 a0001c0008t0006g0387 a0001c0010t0002g0136 a0002c0002t0003g0039 a0002c0002t0003g0301 a0002c0006t0003g0037 a0002c0006t0003g0087	15	408	0.0368	30	c.108 others(49): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0040 a0002c0002t0003g0041	2	408	0.0049	30	c.973 others(45): Show c.973-422_973-421insATATATATATATATATTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG02970.hp2 others(1): Show HG02572.hp2 HG02922.hp2 HG02970.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0006 a0001c0003 a0002c0002 a0002c0006	a0001c0003t0003 a0002c0002t0003 a0002c0006t0003 a0001c0003t0003 a0002c0002t0003 a0002c0006t0003	a0001c0003t0003g0105 a0002c0002t0003g0042 a0002c0002t0003g0044 others(1): Show a0001c0003t0003g0105 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0006t0003g0316	4	408	0.0098	30	c.973 others(45): Show c.973-422_973-421insATATATATATATATATATTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17208810	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0028 a0001c0005t0002g0028	1	408	0.0025	30	c.322 others(45): Show c.322+545_322+546insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	2/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122416690	A A	ATCACTGC others(23): Show ATCACTGCACTCCAGCCTGGGCAACAGAGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	376	0.0027	30	c.148 others(49): Show c.1487+1075_1487+1104dupTCACTGCACTCCAGCCTGGGCAACAG AGTG	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02145.hp2 HG02523.hp1 others(6): Show HG00609.hp1 HG02145.hp2 HG02523.hp1 HG03239.hp1 NA18951.hp1 NA18972.hp2 NA18980.hp1 NA19005.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0025 a0002c0004t0004 a0001c0002t0001 a0001c0002t0025 a0002c0004t0004	a0001c0002t0001g0029 a0001c0002t0001g0063 a0001c0002t0001g0064 others(5): Show a0001c0002t0001g0029 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0200 a0001c0002t0025g0055 a0002c0004t0004g0067	9	386	0.0233	30	c.-16 others(47): Show c.-163-310_-163-281dupATATATATATATATATATATATATATAT AT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0235	1	342	0.0029	30	c.207 others(47): Show c.207-6473_207-6472insGAGAGATATATATATATATATATATATA TA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(23): Show ATATATATATATATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0122 a0001c0001t0047 a0001c0001t0122	a0001c0001t0047g0091 a0001c0001t0122g0090 a0001c0001t0047g0091 a0001c0001t0122g0090	2	342	0.0059	30	c.207 others(47): Show c.207-6473_207-6472insGAGAGAGATATATATATATATATATATA TA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0150 a0001c0002t0019g0150	1	252	0.0040	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTTTT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0018 a0001c0019t0018	a0001c0019t0018g0203 a0001c0019t0018g0203	1	252	0.0040	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATATATTTTT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0172 a0001c0002t0006g0172	1	252	0.0040	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATATATATTT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0176 a0001c0003t0013g0176	1	252	0.0040	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126120925	T T	TTATATAT others(23): Show TTATATATTATATATTACATATGTAATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(107): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18946.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0011 a0014	a0001c0002 a0001c0003 a0001c0004 others(23): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0001c0026 a0001c0031 a0001c0032 a0001c0033 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0048 a0002c0049 a0004c0046 a0005c0025 a0011c0030 a0014c0040	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(63): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025 a0001c0002t0038 a0001c0002t0048 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0016 a0001c0003t0034 a0001c0003t0043 a0001c0004t0002 a0001c0004t0017 a0001c0004t0022 a0001c0008t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0015 a0001c0010t0001 a0001c0012t0014 a0001c0019t0018 a0001c0019t0044 a0001c0026t0001 a0001c0031t0002 a0001c0032t0008 a0001c0033t0001 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0031 a0002c0001t0037 a0002c0001t0049 a0002c0005t0003 a0002c0005t0007 a0002c0005t0009 a0002c0005t0010 a0002c0005t0012 a0002c0005t0030 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0006t0005 a0002c0006t0008 a0002c0006t0011 a0002c0007t0002 a0002c0007t0005 a0002c0011t0009 a0002c0011t0010 a0002c0011t0013 a0002c0011t0033 a0002c0015t0002 a0002c0015t0004 a0002c0017t0002 a0002c0017t0020 a0002c0024t0012 a0002c0048t0025 a0002c0049t0004 a0004c0046t0010 a0005c0025t0002 a0005c0025t0024 a0011c0030t0001 a0014c0040t0001	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0101 others(107): Show a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0101 a0001c0002t0001g0143 a0001c0002t0001g0185 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0220 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0186 a0001c0002t0005g0210 a0001c0002t0005g0251 a0001c0002t0006g0132 a0001c0002t0006g0172 a0001c0002t0006g0208 a0001c0002t0006g0213 a0001c0002t0006g0252 a0001c0002t0025g0206 a0001c0002t0038g0159 a0001c0002t0048g0035 a0001c0003t0003g0041 a0001c0003t0003g0133 a0001c0003t0003g0151 a0001c0003t0003g0195 a0001c0003t0007g0028 a0001c0003t0007g0033 a0001c0003t0007g0087 a0001c0003t0007g0148 a0001c0003t0009g0032 a0001c0003t0010g0140 a0001c0003t0012g0134 a0001c0003t0016g0048 a0001c0003t0034g0127 a0001c0003t0043g0068 a0001c0004t0002g0029 a0001c0004t0002g0069 a0001c0004t0017g0131 a0001c0004t0022g0189 a0001c0008t0002g0047 a0001c0008t0002g0153 a0001c0009t0007g0138 a0001c0009t0010g0096 a0001c0009t0015g0207 a0001c0010t0001g0216 a0001c0012t0014g0085 a0001c0019t0018g0203 a0001c0019t0044g0182 a0001c0026t0001g0075 a0001c0031t0002g0181 a0001c0032t0008g0184 a0001c0033t0001g0162 a0002c0001t0001g0050 a0002c0001t0001g0057 a0002c0001t0001g0062 a0002c0001t0001g0074 a0002c0001t0001g0107 a0002c0001t0001g0115 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0136 a0002c0001t0001g0144 a0002c0001t0001g0196 a0002c0001t0001g0223 a0002c0001t0001g0226 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0005g0053 a0002c0001t0005g0080 a0002c0001t0005g0145 a0002c0001t0005g0232 a0002c0001t0006g0194 a0002c0001t0031g0005 a0002c0001t0037g0081 a0002c0001t0049g0141 a0002c0005t0003g0106 a0002c0005t0003g0113 a0002c0005t0007g0105 a0002c0005t0007g0111 a0002c0005t0007g0199 a0002c0005t0009g0103 a0002c0005t0009g0224 a0002c0005t0010g0059 a0002c0005t0012g0058 a0002c0005t0030g0006 a0002c0006t0001g0165 a0002c0006t0002g0060 a0002c0006t0004g0234 a0002c0006t0005g0241 a0002c0006t0008g0155 a0002c0006t0011g0021 a0002c0007t0002g0112 a0002c0007t0005g0239 a0002c0011t0009g0054 a0002c0011t0010g0120 a0002c0011t0013g0072 a0002c0011t0033g0222 a0002c0015t0002g0024 a0002c0015t0004g0198 a0002c0017t0002g0245 a0002c0017t0020g0249 a0002c0024t0012g0121 a0002c0024t0012g0238 a0002c0048t0025g0110 a0002c0049t0004g0071 a0004c0046t0010g0228 a0005c0025t0002g0247 a0005c0025t0024g0230 a0011c0030t0001g0130 a0014c0040t0001g0063	110	252	0.4365	30	c.417 others(47): Show c.417-2731_417-2702dupTTATATTACATATGTAATATATAATATA TA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126193904	G G	GAAATAAA others(23): Show GAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0018 a0001c0003t0013 a0001c0002t0018 a0001c0003t0013	a0001c0002t0018g0135 a0001c0003t0013g0183 a0001c0002t0018g0135 a0001c0003t0013g0183	2	252	0.0079	30	c.261 others(49): Show c.261-38629_261-38600dupTATTTTATTTTATTTTATTTTATTTT ATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9489259	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0041 a0002c0003t0041	a0002c0003t0041g0059 a0002c0003t0041g0059	1	234	0.0043	30	c.91 others(39): Show c.917_*918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	19/19	917		chr2	TogoVar
ADAM22_chr7_87929251_88207889	88113703	A A	AATAAATA others(23): Show AATAAATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0180 a0002c0002t0003g0180	1	230	0.0044	30	c.474 others(45): Show c.474-878_474-877insAATAAATAAATATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88113709	T T	TATATATA others(23): Show TATATATATATAATATATATATTATAAATAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0230 a0001c0001t0011g0230	1	230	0.0044	30	c.474 others(45): Show c.474-864_474-863insATATATATATTATAAATAAATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM28_chr8_24289069_24364014	24306357	T T	TATATATA others(23): Show TATATATATATATATATATATATATATTTAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0226 a0002c0019t0006g0226	1	348	0.0029	30	c.151 others(47): Show c.151-3536_151-3535insTATATATATATATATATATATATATTTA AA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24325871	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0278 a0003c0006t0002g0278	1	348	0.0029	30	c.891 others(45): Show c.891-654_891-653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr8	TogoVar

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