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
A2M_chr12_9062708_9120919	9094340	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	332	0.0030	-18	c.212 others(35): Show c.2125+615_2125+632delATATATATATATATATAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35			chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308034	ACCCCCAC others(11): Show ACCCCCACCGCAACCTTAC	A A	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0057 a0001c0001t0000g0057	1	418	0.0024	-18	c.336 others(33): Show c.336-599_336-582delGTAAGGTTGCGGTGGGGG	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
AAAS_chr12_53302460_53326610	53318227	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02698.hp2 others(3): Show HG02258.hp2 HG02451.hp2 HG02698.hp2 HG03579.hp2 HG03942.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0007t0001g0053 a0001c0007t0001g0054	6	330	0.0182	-18	c.251 others(35): Show c.251+2320_251+2337delGCACACACACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125094978	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01928.hp1 others(19): Show HG01099.hp1 HG01123.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 NA18612.hp2 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA18979.hp1 NA19009.hp1 NA19055.hp2 NA19066.hp1 NA19067.hp1 NA19080.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0315 a0001c0001t0001g0327 a0001c0001t0003g0041 others(19): Show a0001c0001t0001g0315 a0001c0001t0001g0327 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0005g0346 a0001c0001t0008g0208	22	364	0.0604	-18	c.570 others(35): Show c.570+3484_570+3501delGTGTGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp2 HG02132.hp2 others(10): Show HG00597.hp2 HG02040.hp2 HG02132.hp2 HG02451.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 NA18955.hp1 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0005 a0001c0003t0001 a0001c0004t0004 a0001c0001t0005 a0001c0003t0001 a0001c0004t0004	a0001c0001t0005g0072 a0001c0001t0005g0103 a0001c0001t0005g0104 others(10): Show a0001c0001t0005g0072 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0003t0001g0262 a0001c0004t0004g0098 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0246 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341	13	364	0.0357	-18	c.915 others(35): Show c.915+2965_915+2982delGTGTGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151732179	TATATATA others(11): Show TATATATAATTATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	428	0.0023	-18	c.-18 others(29): Show c.-1856_-1839delATATATAATTATATATAC	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1747		chr3	TogoVar
AADACL2_chr3_151728927_151766339	151751144	GAAAGATC others(11): Show GAAAGATCTTACTGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0126 a0001c0001t0047g0126	1	428	0.0023	-18	c.603 others(35): Show c.603+5468_603+5485delGATCTTACTGGAGTAAAA	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151761131	TTATATAT others(11): Show TTATATATGGTGAGATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show HG01069.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0063 a0001c0001t0064 others(3): Show a0001c0001t0006 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0002c0002t0006	a0001c0001t0006g0016 a0001c0001t0006g0021 a0001c0001t0006g0050 others(13): Show a0001c0001t0006g0016 a0001c0001t0006g0021 a0001c0001t0006g0050 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0119 a0001c0001t0063g0058 a0001c0001t0064g0123 a0001c0001t0065g0094 a0001c0001t0066g0016 a0002c0002t0006g0085	21	428	0.0491	-18	c.35 others(29): Show c.3545_*3562delGGTGAGATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3545	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151761204	GATATATA others(11): Show GATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG02280.hp1 NA18747.hp2 others(1): Show HG00280.hp1 HG02280.hp1 NA18747.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0064 a0002c0002t0025 a0001c0001t0064 a0002c0002t0025	a0001c0001t0064g0123 a0002c0002t0025g0003 a0002c0002t0025g0004 a0001c0001t0064g0123 a0002c0002t0025g0003 a0002c0002t0025g0004	4	428	0.0094	-18	c.36 others(29): Show c.3631_*3648delATATATATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3631	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL4_chr1_12639085_12672076	12649778	GGAAGCTC others(11): Show GGAAGCTCAGAGACAAATT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18985.hp1 NA19066.hp2 NA18946.hp2 NA18985.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0014 a0001c0001t0001g0074	3	310	0.0097	-18	c.169 others(35): Show c.169-1330_169-1313delAATTGAAGCTCAGAGACA	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67242429	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp1 others(107): Show HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0002g0321 a0001c0001t0010g0241 a0001c0001t0010g0242 a0001c0001t0011g0012 a0001c0001t0016g0287 a0001c0001t0017g0258 a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0004t0001g0266 a0001c0004t0001g0318 a0001c0004t0001g0331 a0001c0004t0001g0332 a0002c0002t0001g0336 a0004c0006t0001g0022	110	380	0.2895	-18	c.74- others(33): Show c.74-5627_74-5610delTTTTTTTTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAR2_chr20_36231478_36261933	36237750	GTATTATT others(11): Show GTATTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02622.hp1 HG02809.hp1 others(5): Show HG01261.hp2 HG02622.hp1 HG02809.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0006 a0001c0002t0001g0178 a0001c0002t0001g0179	8	298	0.0269	-18	c.-49 others(35): Show c.-49+1279_-49+1296delATTATTATTATTATTATT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
AAR2_chr20_36231478_36261933	36242362	CTTTTGTT others(11): Show CTTTTGTTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02622.hp1 HG02809.hp1 others(5): Show HG01261.hp2 HG02622.hp1 HG02809.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0006 a0001c0002t0001g0178 a0001c0002t0001g0179	8	298	0.0269	-18	c.757 others(35): Show c.757+1739_757+1756delTTTGTTGTTGTTGTTGTT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0009 a0010	a0001c0001 a0001c0007 a0001c0013 others(5): Show a0001c0001 a0001c0007 a0001c0013 a0001c0016 a0006c0018 a0007c0015 a0009c0017 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0007t0001 a0001c0013t0001 a0001c0016t0001 a0006c0018t0001 a0007c0015t0001 a0009c0017t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(148): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0332 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0243 a0001c0001t0002g0264 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0330 a0001c0001t0006g0054 a0001c0001t0007g0334 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0013t0001g0086 a0001c0016t0001g0097 a0006c0018t0001g0016 a0007c0015t0001g0009 a0009c0017t0001g0026 a0010c0014t0001g0110	151	362	0.4171	-18	c.962 others(33): Show c.962+278_962+295delTTTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AATK_chr17_81112295_81171221	81170062	GTGTGTAT others(11): Show GTGTGTATGTGTGTGCATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	368	0.0027	-18	c.-40 others(29): Show c.-4088_-4071delTATGCACACACATACACA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding		3842		chr17	TogoVar
ABAT_chr16_8669617_8789570	8724731	GAAAAAAA others(11): Show GAAAAAAAAAAAAAACAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(72): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG02040.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18950.hp1 NA18957.hp1 NA18980.hp2 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19006.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(5): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0011t0001 a0001c0011t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0026 a0002c0002t0034 a0002c0002t0045 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0007 a0002c0004t0008 a0002c0005t0001 a0002c0005t0004 a0002c0005t0041 a0002c0006t0002 a0002c0006t0030 a0002c0007t0003 a0002c0007t0007 a0002c0007t0011 a0002c0007t0014 a0002c0007t0018	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0134 others(72): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0134 a0001c0001t0001g0227 a0001c0001t0001g0272 a0001c0001t0001g0287 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0361 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0137 a0001c0001t0002g0213 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0002g0354 a0001c0001t0003g0029 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0219 a0001c0001t0003g0329 a0001c0001t0004g0109 a0001c0001t0004g0330 a0001c0001t0011g0331 a0001c0001t0021g0327 a0001c0001t0023g0212 a0001c0001t0037g0289 a0001c0001t0040g0292 a0001c0001t0043g0056 a0001c0003t0002g0179 a0001c0003t0003g0175 a0001c0003t0003g0211 a0001c0003t0003g0221 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0359 a0001c0003t0004g0360 a0001c0011t0001g0206 a0001c0011t0002g0205 a0002c0002t0001g0270 a0002c0002t0001g0345 a0002c0002t0002g0358 a0002c0002t0003g0269 a0002c0002t0003g0309 a0002c0002t0005g0243 a0002c0002t0006g0043 a0002c0002t0006g0337 a0002c0002t0006g0351 a0002c0002t0006g0353 a0002c0002t0007g0009 a0002c0002t0007g0275 a0002c0002t0010g0308 a0002c0002t0026g0332 a0002c0002t0034g0046 a0002c0002t0045g0311 a0002c0004t0001g0288 a0002c0004t0002g0174 a0002c0004t0003g0172 a0002c0004t0007g0347 a0002c0004t0008g0176 a0002c0005t0001g0225 a0002c0005t0001g0298 a0002c0005t0004g0186 a0002c0005t0041g0319 a0002c0006t0002g0210 a0002c0006t0030g0008 a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0011g0004 a0002c0007t0014g0048 a0002c0007t0018g0317	75	362	0.2072	-18	c.-41 others(37): Show c.-41-10953_-41-10936delCAAAAAAAAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18948.hp1 NA19006.hp2 others(1): Show HG02523.hp2 NA18948.hp1 NA19006.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0003 a0001c0003t0003 a0002c0005t0003	a0001c0003t0003g0064 a0001c0003t0003g0135 a0001c0003t0003g0165 others(1): Show a0001c0003t0003g0064 a0001c0003t0003g0135 a0001c0003t0003g0165 a0002c0005t0003g0075	4	362	0.0111	-18	c.817 others(33): Show c.817-493_817-476delTGTGTGTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69211314	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG04199.hp1 HG03579.hp2 HG04199.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0193 a0004c0004t0003g0280 a0004c0004t0003g0193 a0004c0004t0003g0280	2	348	0.0058	-18	c.100 others(37): Show c.1006+3372_1006+3389delATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211344	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0332 a0001c0001t0017g0332	1	348	0.0029	-18	c.100 others(37): Show c.1006+3342_1006+3359delGTATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215134612	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0017 a0002c0007t0003g0017	1	198	0.0051	-18	c.69+ others(33): Show c.69+3510_69+3527delCTCTCTCTCTCTCTATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48172797	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp2 HG03098.hp2 others(1): Show HG02145.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1	a0014 a0028 a0029 a0014 a0028 a0029	a0014c0019 a0028c0015 a0029c0014 a0014c0019 a0028c0015 a0029c0014	a0014c0019t0002 a0028c0015t0004 a0029c0014t0010 a0014c0019t0002 a0028c0015t0004 a0029c0014t0010	a0014c0019t0002g0175 a0028c0015t0004g0173 a0028c0015t0004g0176 others(1): Show a0014c0019t0002g0175 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0010g0174	4	178	0.0225	-18	c.69+ others(33): Show c.69+1266_69+1283delAAAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48178975	CTAATAAT others(11): Show CTAATAATAATAATAATAA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0006 a0001c0103t0006	a0001c0103t0006g0059 a0001c0103t0006g0059	1	178	0.0056	-18	c.69+ others(33): Show c.69+7454_69+7471delTAATAATAATAATAATAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48219883	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0039 a0039	a0039c0110 a0039c0110	a0039c0110t0007 a0039c0110t0007	a0039c0110t0007g0126 a0039c0110t0007g0126	1	178	0.0056	-18	c.439 others(33): Show c.439+412_439+429delCACACACACACACACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411031	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0068 a0068	a0068c0067 a0068c0067	a0068c0067t0009 a0068c0067t0009	a0068c0067t0009g0142 a0068c0067t0009g0142	1	178	0.0056	-18	c.122 others(37): Show c.12228+374_12228+391delTTCTTTCTTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411053	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03492.hp1 others(3): Show HG03041.hp1 HG03098.hp2 HG03492.hp1 NA18959.hp1 NA18961.hp1 NA20300.hp1	a0011 a0014 a0037 others(2): Show a0011 a0014 a0037 a0038 a0078	a0011c0044 a0014c0019 a0037c0100 others(2): Show a0011c0044 a0014c0019 a0037c0100 a0038c0108 a0078c0084	a0011c0044t0001 a0014c0019t0002 a0037c0100t0001 others(2): Show a0011c0044t0001 a0014c0019t0002 a0037c0100t0001 a0038c0108t0001 a0078c0084t0002	a0011c0044t0001g0096 a0014c0019t0002g0136 a0014c0019t0002g0175 others(3): Show a0011c0044t0001g0096 a0014c0019t0002g0136 a0014c0019t0002g0175 a0037c0100t0001g0041 a0038c0108t0001g0113 a0078c0084t0002g0076	6	178	0.0337	-18	c.122 others(37): Show c.12228+390_12228+407delTTCTTTTTCTTTCTTTCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(11): Show CGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03927.hp1 HG04204.hp1 HG02698.hp2 HG03927.hp1 HG04204.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0076 a0005c0026 a0001c0001 a0003c0076 a0005c0026	a0001c0001t0004 a0003c0076t0002 a0005c0026t0004 a0001c0001t0004 a0003c0076t0002 a0005c0026t0004	a0001c0001t0004g0193 a0003c0076t0002g0130 a0005c0026t0004g0042 a0001c0001t0004g0193 a0003c0076t0002g0130 a0005c0026t0004g0042	3	318	0.0094	-18	c.422 others(33): Show c.422-862_422-845delCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862649	CGGGCCGG others(11): Show CGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03579.hp1 NA19007.hp2 others(1): Show HG00621.hp2 HG03579.hp1 NA19007.hp2 NA19010.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0011	a0001c0092 a0006c0004 a0007c0003 others(1): Show a0001c0092 a0006c0004 a0007c0003 a0011c0055	a0001c0092t0012 a0006c0004t0002 a0007c0003t0011 others(1): Show a0001c0092t0012 a0006c0004t0002 a0007c0003t0011 a0011c0055t0001	a0001c0092t0012g0220 a0006c0004t0002g0132 a0007c0003t0011g0072 others(1): Show a0001c0092t0012g0220 a0006c0004t0002g0132 a0007c0003t0011g0072 a0011c0055t0001g0259	4	318	0.0126	-18	c.422 others(33): Show c.422-867_422-850delCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862659	CGGGCCGG others(11): Show CGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0096 a0004c0096	a0004c0096t0007 a0004c0096t0007	a0004c0096t0007g0020 a0004c0096t0007g0020	1	318	0.0031	-18	c.422 others(33): Show c.422-877_422-860delCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862664	CGGGCCGG others(11): Show CGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0032 a0032	a0032c0104 a0032c0104	a0032c0104t0005 a0032c0104t0005	a0032c0104t0005g0168 a0032c0104t0005g0168	1	318	0.0031	-18	c.422 others(33): Show c.422-882_422-865delCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2316490	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	252	0.0040	-18	c.111 others(35): Show c.1111+775_1111+792delTTTTTTTTTTTTTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94116955	CCTTTCTT others(11): Show CCTTTCTTTCTTTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18953.hp2 HG02074.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0216 a0001c0004t0001g0217 a0001c0001t0001g0216 a0001c0004t0001g0217	2	306	0.0065	-18	c.67- others(33): Show c.67-3907_67-3890delAAAGAGAAAGAAAGAAAG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69293855	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01257.hp2 others(5): Show HG00099.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG02145.hp1 HG02647.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0016 a0001c0004t0005g0324 a0001c0004t0005g0325 others(5): Show a0001c0004t0005g0016 a0001c0004t0005g0324 a0001c0004t0005g0325 a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 a0001c0004t0005g0329 a0001c0004t0005g0330	8	350	0.0229	-18	c.149 others(35): Show c.1495+782_1495+799delGCACACACACACACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68904291	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0004 a0008 a0004 a0008	a0004c0008 a0008c0040 a0004c0008 a0008c0040	a0004c0008t0001 a0008c0040t0001 a0004c0008t0001 a0008c0040t0001	a0004c0008t0001g0125 a0008c0040t0001g0121 a0004c0008t0001g0125 a0008c0040t0001g0121	2	274	0.0073	-18	c.239 others(35): Show c.2399-810_2399-793delATTATTATTATTATTATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	19/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 NA18962.hp2 HG02055.hp1 HG03471.hp2 NA18962.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0004c0008t0005 a0001c0001t0001 a0004c0008t0001 a0004c0008t0005	a0001c0001t0001g0178 a0004c0008t0001g0153 a0004c0008t0005g0152 a0001c0001t0001g0178 a0004c0008t0001g0153 a0004c0008t0005g0152	3	274	0.0110	-18	c.150 others(33): Show c.1501+30_1501+47delAAAAAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp2 others(5): Show HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02717.hp1 HG02896.hp1 HG03516.hp1 NA19043.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0006 others(3): Show a0001c0001 a0001c0002 a0002c0006 a0008c0019 a0008c0039 a0008c0040	a0001c0001t0001 a0001c0002t0001 a0002c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0006t0001 a0008c0019t0001 a0008c0039t0001 a0008c0040t0001	a0001c0001t0001g0155 a0001c0002t0001g0120 a0002c0006t0001g0001 others(4): Show a0001c0001t0001g0155 a0001c0002t0001g0120 a0002c0006t0001g0001 a0002c0006t0001g0094 a0008c0019t0001g0156 a0008c0039t0001g0154 a0008c0040t0001g0121	8	274	0.0292	-18	c.-5- others(33): Show c.-5-2295_-5-2278delTATATATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA9_chr17_68969488_69065927	68971484	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0287 a0004c0005t0003g0287	1	312	0.0032	-18	c.44 others(29): Show c.4413_*4430delACACACACACACACACAC	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding		3003		chr17	TogoVar
ABCA9_chr17_68969488_69065927	69009403	CTTCCGTG others(11): Show CTTCCGTGGAAAGAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02572.hp1 HG02602.hp1 others(11): Show HG01175.hp2 HG02572.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp2 NA18946.hp1 NA18954.hp2 NA18962.hp1 NA19058.hp1 NA19066.hp2 NA19083.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0009 a0003c0003t0001 a0001c0001t0001 a0001c0001t0009 a0003c0003t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 others(10): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0257 a0001c0001t0009g0199 a0003c0003t0001g0004 a0003c0003t0001g0027 a0003c0003t0001g0028	14	312	0.0449	-18	c.314 others(37): Show c.3148-1186_3148-1169delCAGCCTCTTTCCACGGAA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	23/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69013689	AGACACTG others(11): Show AGACACTGGATGCCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0003 a0011c0015t0003	a0011c0015t0003g0049 a0011c0015t0003g0049	1	312	0.0032	-18	c.304 others(37): Show c.3040-1624_3040-1607delCAGGAGGCATCCAGTGTC	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	22/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69046875	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01167.hp2 others(31): Show HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01978.hp1 HG02004.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG06807.hp2 NA18974.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18993.hp1 NA19002.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0009 a0010 a0019	a0001c0001 a0004c0005 a0005c0006 others(3): Show a0001c0001 a0004c0005 a0005c0006 a0009c0011 a0010c0012 a0019c0023	a0001c0001t0001 a0004c0005t0003 a0005c0006t0001 others(3): Show a0001c0001t0001 a0004c0005t0003 a0005c0006t0001 a0009c0011t0003 a0010c0012t0001 a0019c0023t0003	a0001c0001t0001g0012 a0004c0005t0003g0001 a0004c0005t0003g0268 others(26): Show a0001c0001t0001g0012 a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 a0004c0005t0003g0270 a0004c0005t0003g0271 a0004c0005t0003g0272 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0003g0287 a0004c0005t0003g0288 a0004c0005t0003g0289 a0004c0005t0003g0290 a0004c0005t0003g0291 a0005c0006t0001g0009 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0278 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0281 a0005c0006t0001g0283 a0005c0006t0001g0284 a0005c0006t0001g0294 a0009c0011t0003g0047 a0010c0012t0001g0273 a0010c0012t0001g0282 a0019c0023t0003g0013	34	312	0.1090	-18	c.305 others(35): Show c.305-1557_305-1540delTATATATATATATATATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	3/38			chr17	TogoVar
ABCB5_chr7_20610667_20762008	20681002	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0047 a0007c0047	a0007c0047t0004 a0007c0047t0004	a0007c0047t0004g0063 a0007c0047t0004g0063	1	360	0.0028	-18	c.170 others(35): Show c.1708-501_1708-484delTTCTTTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711765	CCTTTCCT others(11): Show CCTTTCCTTCTTTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02622.hp2 others(1): Show HG01243.hp2 HG02109.hp2 HG02622.hp2 NA21309.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0025	a0001c0001 a0002c0003 a0011c0025 others(1): Show a0001c0001 a0002c0003 a0011c0025 a0025c0030	a0001c0001t0001 a0002c0003t0003 a0011c0025t0001 others(1): Show a0001c0001t0001 a0002c0003t0003 a0011c0025t0001 a0025c0030t0005	a0001c0001t0001g0346 a0002c0003t0003g0005 a0011c0025t0001g0094 others(1): Show a0001c0001t0001g0346 a0002c0003t0003g0005 a0011c0025t0001g0094 a0025c0030t0005g0159	4	360	0.0111	-18	c.242 others(37): Show c.2421+6964_2421+6981delCTTCTTTCTCTTTCTTTC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20755695	AGCTTTGA others(11): Show AGCTTTGATCTCTTTTATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0018 a0018	a0018c0072 a0018c0072	a0018c0072t0013 a0018c0072t0013	a0018c0072t0013g0056 a0018c0072t0013g0056	1	360	0.0028	-18	c.74 others(25): Show c.74_*91delTTTGATCTCTTTTATTGC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	28/28	74	INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75094036	ATATATAT others(11): Show ATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0002	1	232	0.0043	-18	c.453 others(35): Show c.453+4888_453+4905delGATATATATATATATATA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04228.hp1 HG02615.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0129 a0001c0001t0014g0160 a0001c0001t0001g0129 a0001c0001t0014g0160	2	232	0.0086	-18	c.334 others(35): Show c.334-5004_334-4987delAAAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC11_chr16_48160773_48252539	48164165	ACTCATGC others(11): Show ACTCATGCCTCTAGAACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	158	0.0063	-18	c.30 others(29): Show c.3091_*3108delAGGTTCTAGAGGCATGAG	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding		1607		chr16	TogoVar
ABCC1_chr16_15944616_16148053	16053774	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	249	0.0040	-18	c.147 others(35): Show c.1473+981_1473+998delAAAAAAAAAAAAAAAAAA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99814095	ATATATAC others(11): Show ATATATACACACATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	336	0.0030	-18	c.209 others(35): Show c.2094+971_2094+988delATATACACACATATGTGT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814140	TACACACA others(11): Show TACACACATGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03942.hp1 NA18940.hp1 others(8): Show HG02055.hp2 HG03942.hp1 NA18940.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18974.hp1 NA18992.hp1 NA19056.hp1 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0003 a0001c0005t0001 a0001c0001t0001 a0001c0002t0003 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0191 a0001c0001t0001g0203 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0002t0003g0202 a0001c0005t0001g0153 a0001c0005t0001g0154 a0001c0005t0001g0158 a0001c0005t0001g0170 a0001c0005t0001g0175 a0001c0005t0001g0176	11	336	0.0327	-18	c.209 others(37): Show c.2094+1001_2094+1018delACATGTATGTATACACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814183	GTATACAC others(11): Show GTATACACACATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG01433.hp1 others(5): Show HG00673.hp2 HG01255.hp2 HG01433.hp1 HG02132.hp2 HG03098.hp2 HG04184.hp1 NA18971.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0055 others(5): Show a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0003g0033 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119	8	336	0.0238	-18	c.209 others(37): Show c.2094+1079_2094+1096delACACACATGTGTATATAT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673974	TTCTTTCT others(11): Show TTCTTTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	342	0.0029	-18	c.259 others(35): Show c.2599+320_2599+337delTTCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar

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