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
BLOC1S2_chr10_100268293_100291680	100276470	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02083.hp2 HG03579.hp1 others(2): Show HG00423.hp2 HG02083.hp2 HG03579.hp1 NA18971.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0206 a0001c0001t0006g0209 a0001c0001t0006g0019 a0001c0001t0006g0206 a0001c0001t0006g0209	5	378	0.0132	-13	c.398 others(28): Show c.398-990_398-978delCGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S5_chr6_8008567_8069389	8057220	AAAAAAAA others(6): Show AAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02965.hp1 NA19043.hp2 HG01099.hp2 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205	3	364	0.0082	-13	c.195 others(30): Show c.195+5301_195+5313delCTTTTCTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122214616	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	336	0.0030	-13	c.224 others(32): Show c.2247+3535_2247+3547delTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	20/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321389	TAAGCATA others(6): Show TAAGCATATACATA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	336	0.0030	-13	c.109 others(34): Show c.10996-3035_10996-3023delGCATATACATAAA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP2_chr17_28609446_28650158	28615034	TCCTGTAC others(6): Show TCCTGTACTGCAGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0131 a0001c0016t0002g0131	1	310	0.0032	-13	c.17 others(20): Show c.17_*29delGCTGCAGTACAGG	BLTP2	ENSG00000007202.16	transcript	ENST00000528896.7	protein_coding	39/39	17		chr17	TogoVar
BLTP2_chr17_28609446_28650158	28634400	CCACCCAC others(6): Show CCACCCACCCAAAA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	310	0.0032	-13	c.307 others(30): Show c.3070+104_3070+116delTTTTGGGTGGGTG	BLTP2	ENSG00000007202.16	transcript	ENST00000528896.7	protein_coding	16/38			chr17	TogoVar
BLTP3A_chr6_34787083_34882514	34856663	GCTAGACA others(6): Show GCTAGACAGTGTTA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0296	1	312	0.0032	-13	c.129 others(30): Show c.1292-126_1292-114delCTAGACAGTGTTA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	10/20			chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34869640	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03831.hp2 NA18747.hp2 others(5): Show HG02015.hp1 HG03831.hp2 NA18747.hp2 NA18939.hp1 NA18952.hp1 NA18970.hp2 NA19060.hp1 NA19065.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0006 a0013c0020 a0001c0001 a0001c0006 a0013c0020	a0001c0001t0001 a0001c0006t0001 a0013c0020t0001 a0001c0001t0001 a0001c0006t0001 a0013c0020t0001	a0001c0001t0001g0221 a0001c0001t0001g0253 a0001c0006t0001g0190 others(5): Show a0001c0001t0001g0221 a0001c0001t0001g0253 a0001c0006t0001g0190 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0006t0001g0244 a0001c0006t0001g0278 a0013c0020t0001g0254	8	312	0.0256	-13	c.371 others(32): Show c.3719-1198_3719-1186delTTTTTTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100104884	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0006 a0017c0020t0001g0006	1	188	0.0053	-13	c.208 others(28): Show c.208-946_208-934delTTTTTTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	2/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140720	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG03195.hp2 HG02809.hp1 HG03098.hp1 HG03195.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180	3	188	0.0160	-13	c.44+ others(28): Show c.44+1859_44+1871delATATTTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140722	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0182 a0005c0006t0001g0182	1	188	0.0053	-13	c.44+ others(28): Show c.44+1857_44+1869delATATATTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43798949	AAAATATA others(6): Show AAAATATAACATGT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	414	0.0024	-13	c.353 others(30): Show c.353-1515_353-1503delAAATATAACATGT	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	5/7			chr7	TogoVar
BLVRB_chr19_40442768_40470745	40459327	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	362	0.0028	-13	c.80- others(26): Show c.80-795_80-783delTTTTTTTTTTTTT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40467801	ACAGCTGT others(6): Show ACAGCTGTAACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	362	0.0028	-13	c.-21 others(24): Show c.-2126_-2114delGTGGTTACAGCTG	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding		2057		chr19	TogoVar
BMAL1_chr11_13272790_13392266	13284258	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG02572.hp1 HG00741.hp2 HG02145.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0133 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0001g0133 a0001c0001t0004g0022 a0001c0001t0004g0023	3	314	0.0096	-13	c.-26 others(32): Show c.-263+6337_-263+6349delATATATATTTTTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15462137	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	291	0.0034	-13	c.106 others(32): Show c.106+27398_106+27410delTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591950	ATAGATAT others(6): Show ATAGATATATATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0162 a0001c0001t0010g0025 a0001c0001t0010g0162	2	291	0.0069	-13	c.51 others(24): Show c.5122_*5134delTAGATATATATCT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3692		chr16	TogoVar
BMP2K_chr4_78771350_78921365	78829780	CTTTTCTT others(6): Show CTTTTCTTTTCTCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	204	0.0049	-13	c.297 others(30): Show c.297+3627_297+3639delTTTCTTTTCTCTT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829835	CTCTTCTC others(6): Show CTCTTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	204	0.0049	-13	c.297 others(30): Show c.297+3685_297+3697delCTCTTCTCTTCTT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55759144	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG03139.hp1 HG01891.hp1 HG02647.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0034 a0001c0002t0008 a0001c0002t0034	a0001c0002t0008g0030 a0001c0002t0008g0040 a0001c0002t0034g0318 a0001c0002t0008g0030 a0001c0002t0008g0040 a0001c0002t0034g0318	3	320	0.0094	-13	c.110 others(28): Show c.1105-42_1105-30delTTTTTTTTTTTTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	5/6			chr6	TogoVar
BMP5_chr6_55748653_55880590	55759171	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02258.hp1 HG02896.hp1 HG02135.hp1 HG02258.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0005 a0001c0004t0001 a0001c0012t0016 a0001c0001t0005 a0001c0004t0001 a0001c0012t0016	a0001c0001t0005g0306 a0001c0004t0001g0133 a0001c0012t0016g0317 a0001c0001t0005g0306 a0001c0004t0001g0133 a0001c0012t0016g0317	3	320	0.0094	-13	c.110 others(28): Show c.1105-69_1105-57delGTTTTTTTTTTTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	5/6			chr6	TogoVar
BMP5_chr6_55748653_55880590	55819071	TCAGAGAA others(6): Show TCAGAGAAAATGAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG02922.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0205 a0001c0002t0001g0104 a0001c0001t0001g0152 a0001c0001t0001g0205 a0001c0002t0001g0104	3	320	0.0094	-13	c.683 others(28): Show c.683+571_683+583delGTCATTTTCTCTG	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	2/6			chr6	TogoVar
BMP6_chr6_7721099_7886728	7728487	ACCCAGTC others(6): Show ACCCAGTCACATCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG01081.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0074 a0001c0001t0005g0075 a0001c0001t0003g0074 a0001c0001t0005g0075	2	308	0.0065	-13	c.664 others(28): Show c.664+872_664+884delAGTCACATCGCCC	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813109	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0258	1	308	0.0033	-13	c.665 others(32): Show c.665-32030_665-32018delTATATATATATAT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6			chr6	TogoVar
BMP6_chr6_7721099_7886728	7834313	TATCATCA others(6): Show TATCATCAGAGTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(187): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0009 others(15): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018 a0001c0019 a0002c0003 a0002c0004 a0002c0015 a0003c0005 a0003c0006 a0004c0007 a0004c0021 a0006c0014 a0007c0017 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0026 a0001c0001t0033 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0002t0019 a0001c0002t0023 a0001c0009t0001 a0001c0010t0003 a0001c0011t0001 a0001c0011t0003 a0001c0012t0018 a0001c0018t0003 a0001c0019t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0012 a0002c0003t0021 a0002c0004t0001 a0002c0004t0002 a0002c0015t0003 a0003c0005t0004 a0003c0005t0006 a0003c0006t0006 a0004c0007t0003 a0004c0021t0001 a0006c0014t0001 a0007c0017t0006 a0008c0016t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(187): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0002g0087 a0001c0001t0002g0135 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0146 a0001c0001t0003g0163 a0001c0001t0003g0178 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0225 a0001c0001t0005g0075 a0001c0001t0009g0055 a0001c0001t0009g0059 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0011g0046 a0001c0001t0011g0048 a0001c0001t0011g0113 a0001c0001t0012g0034 a0001c0001t0012g0192 a0001c0001t0013g0305 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0015g0131 a0001c0001t0015g0201 a0001c0001t0016g0053 a0001c0001t0017g0081 a0001c0001t0020g0030 a0001c0001t0020g0032 a0001c0001t0026g0298 a0001c0001t0033g0128 a0001c0001t0036g0051 a0001c0001t0040g0085 a0001c0001t0041g0031 a0001c0002t0001g0145 a0001c0002t0001g0156 a0001c0002t0001g0184 a0001c0002t0001g0223 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0166 a0001c0002t0002g0191 a0001c0002t0002g0199 a0001c0002t0002g0215 a0001c0002t0005g0147 a0001c0002t0005g0150 a0001c0002t0017g0050 a0001c0002t0019g0068 a0001c0002t0023g0297 a0001c0009t0001g0133 a0001c0009t0001g0193 a0001c0010t0003g0089 a0001c0010t0003g0104 a0001c0010t0003g0106 a0001c0011t0001g0153 a0001c0011t0001g0186 a0001c0011t0003g0154 a0001c0012t0018g0066 a0001c0012t0018g0067 a0001c0018t0003g0224 a0001c0019t0037g0073 a0002c0003t0001g0227 a0002c0003t0001g0229 a0002c0003t0001g0231 a0002c0003t0001g0233 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0245 a0002c0003t0001g0251 a0002c0003t0001g0254 a0002c0003t0001g0258 a0002c0003t0001g0265 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0002g0252 a0002c0003t0003g0259 a0002c0003t0003g0260 a0002c0003t0003g0308 a0002c0003t0005g0250 a0002c0003t0005g0255 a0002c0003t0005g0282 a0002c0003t0005g0302 a0002c0003t0012g0232 a0002c0003t0021g0261 a0002c0004t0001g0289 a0002c0004t0002g0226 a0002c0004t0002g0253 a0002c0004t0002g0263 a0002c0004t0002g0271 a0002c0015t0003g0262 a0003c0005t0004g0007 a0003c0005t0004g0012 a0003c0005t0004g0015 a0003c0005t0004g0016 a0003c0005t0004g0017 a0003c0005t0004g0018 a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0024 a0003c0005t0004g0025 a0003c0005t0004g0027 a0003c0005t0004g0286 a0003c0005t0006g0023 a0003c0005t0006g0026 a0003c0006t0006g0001 a0004c0007t0003g0079 a0004c0021t0001g0058 a0006c0014t0001g0234 a0007c0017t0006g0022 a0008c0016t0001g0101	190	308	0.6169	-13	c.665 others(32): Show c.665-10813_665-10801delATCATCAGAGTGA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7853441	AACATTAC others(6): Show AACATTACCTATGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	308	0.0033	-13	c.858 others(30): Show c.858-8007_858-7995delATTACCTATGGAC	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57192998	CGGCCTAC others(6): Show CGGCCTACCTGACA	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	272	0.0037	-13	c.761 others(30): Show c.761-9092_761-9080delTGTCAGGTAGGCC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BMPER_chr7_33900539_34161427	34024385	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0200 a0001c0002t0021g0200	1	232	0.0043	-13	c.577 others(32): Show c.577-21920_577-21908delTATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14			chr7	TogoVar
BMPER_chr7_33900539_34161427	34028601	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02922.hp1 HG02523.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0157 a0001c0001t0001g0212 a0001c0001t0002g0157	2	232	0.0086	-13	c.577 others(32): Show c.577-17685_577-17673delTTTTTTTTTTTTT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86760244	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01175.hp1 others(4): Show HG00323.hp2 HG00738.hp1 HG01175.hp1 HG02451.hp1 HG03540.hp1 NA18747.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0001 a0001c0002 a0001c0006 a0002c0001	a0001c0002t0022 a0001c0002t0037 a0001c0006t0079 others(2): Show a0001c0002t0022 a0001c0002t0037 a0001c0006t0079 a0002c0001t0012 a0002c0001t0019	a0001c0002t0022g0265 a0001c0002t0022g0266 a0001c0002t0022g0267 others(4): Show a0001c0002t0022g0265 a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0037g0160 a0001c0006t0079g0161 a0002c0001t0012g0159 a0002c0001t0019g0138	7	278	0.0252	-13	c.-26 others(32): Show c.-268+3329_-268+3341delCTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86799498	CTTCCTTC others(6): Show CTTCCTTCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01255.hp1 others(22): Show HG00423.hp1 HG01074.hp2 HG01255.hp1 HG01952.hp1 HG01981.hp2 HG02129.hp1 HG02148.hp1 HG02258.hp1 HG02523.hp1 HG02922.hp1 HG02970.hp2 HG03239.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18955.hp1 NA18962.hp2 NA18965.hp1 NA18989.hp1 NA18994.hp1 NA19062.hp1 NA19074.hp2 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0008	a0001c0002t0030 a0001c0002t0051 a0001c0003t0020 others(10): Show a0001c0002t0030 a0001c0002t0051 a0001c0003t0020 a0001c0003t0059 a0002c0001t0002 a0002c0001t0008 a0002c0001t0009 a0002c0001t0015 a0002c0001t0038 a0002c0001t0043 a0002c0001t0044 a0002c0001t0067 a0003c0008t0013	a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0051g0136 others(21): Show a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0051g0136 a0001c0003t0020g0156 a0001c0003t0020g0157 a0001c0003t0020g0158 a0001c0003t0059g0210 a0002c0001t0002g0196 a0002c0001t0008g0043 a0002c0001t0009g0001 a0002c0001t0009g0041 a0002c0001t0009g0042 a0002c0001t0009g0045 a0002c0001t0009g0046 a0002c0001t0009g0047 a0002c0001t0015g0044 a0002c0001t0015g0050 a0002c0001t0015g0073 a0002c0001t0015g0123 a0002c0001t0038g0040 a0002c0001t0043g0052 a0002c0001t0044g0078 a0002c0001t0067g0165 a0003c0008t0013g0064	25	278	0.0899	-13	c.-26 others(34): Show c.-267-39364_-267-39352delCCTTCCTTTCTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86799501	CCTTCCTT others(6): Show CCTTCCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0160 a0001c0002t0037g0160	1	278	0.0036	-13	c.-26 others(34): Show c.-267-39360_-267-39348delCCTTTCTTTTCTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(63): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG00733.hp1 HG01071.hp2 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG03041.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0001 others(1): Show a0001c0002 a0001c0005 a0002c0001 a0003c0008	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(18): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0002t0017 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0005t0004 a0002c0001t0008 a0002c0001t0013 a0002c0001t0019 a0002c0001t0041 a0002c0001t0042 a0003c0008t0013	a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 others(63): Show a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0089 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0115 a0001c0002t0003g0121 a0001c0002t0003g0140 a0001c0002t0003g0143 a0001c0002t0003g0275 a0001c0002t0004g0051 a0001c0002t0004g0076 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0100 a0001c0002t0004g0105 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0277 a0001c0002t0006g0011 a0001c0002t0016g0094 a0001c0002t0016g0098 a0001c0002t0016g0099 a0001c0002t0016g0108 a0001c0002t0017g0039 a0001c0002t0027g0014 a0001c0002t0027g0015 a0001c0002t0028g0061 a0001c0002t0028g0145 a0001c0002t0029g0066 a0001c0002t0029g0124 a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0045g0111 a0001c0002t0046g0062 a0001c0002t0047g0106 a0001c0002t0048g0080 a0001c0002t0049g0085 a0001c0005t0004g0063 a0002c0001t0008g0043 a0002c0001t0008g0053 a0002c0001t0008g0054 a0002c0001t0008g0055 a0002c0001t0008g0056 a0002c0001t0008g0057 a0002c0001t0008g0060 a0002c0001t0013g0072 a0002c0001t0013g0082 a0002c0001t0019g0077 a0002c0001t0041g0058 a0002c0001t0042g0059 a0003c0008t0013g0064	66	278	0.2374	-13	c.-26 others(32): Show c.-267-3289_-267-3277delAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86866399	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02970.hp2 others(1): Show HG02451.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0058 a0001c0003t0059 others(1): Show a0001c0003t0056 a0001c0003t0058 a0001c0003t0059 a0001c0003t0060	a0001c0003t0056g0252 a0001c0003t0058g0276 a0001c0003t0059g0210 others(1): Show a0001c0003t0056g0252 a0001c0003t0058g0276 a0001c0003t0059g0210 a0001c0003t0060g0153	4	278	0.0144	-13	c.-15 others(32): Show c.-152-9453_-152-9441delTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86874709	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0112 a0001c0002t0004g0112	1	278	0.0036	-13	c.-15 others(32): Show c.-152-1144_-152-1132delTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86884394	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04184.hp1 HG02602.hp1 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0041 a0002c0001t0042 a0002c0001t0041 a0002c0001t0042	a0002c0001t0041g0058 a0002c0001t0042g0059 a0002c0001t0041g0058 a0002c0001t0042g0059	2	278	0.0072	-13	c.68- others(28): Show c.68-5643_68-5631delTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94869094	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	226	0.0044	-13	c.-18 others(32): Show c.-182-6735_-182-6723delACACACACACACA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94897941	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG03486.hp1 HG01884.hp1 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202	3	226	0.0133	-13	c.-11 others(34): Show c.-113+22053_-113+22065delTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94951869	TGTGAATT others(6): Show TGTGAATTCGTCTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02258.hp1 others(7): Show HG01884.hp1 HG01891.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 others(3): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046	a0001c0001t0011g0106 a0001c0001t0011g0191 a0001c0001t0011g0222 others(7): Show a0001c0001t0011g0106 a0001c0001t0011g0191 a0001c0001t0011g0222 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0015g0197 a0001c0001t0039g0223 a0001c0001t0045g0102 a0001c0001t0046g0204	10	226	0.0443	-13	c.-11 others(34): Show c.-112-44168_-112-44156delGAATTCGTCTGGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94957333	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0109 a0001c0001t0019g0109	1	226	0.0044	-13	c.-11 others(34): Show c.-112-38692_-112-38680delTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94987102	TATATGTA others(6): Show TATATGTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(196): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0002t0008 a0001c0002t0021 a0002c0003t0017 a0003c0004t0003 a0004c0005t0034	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0048 others(196): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0164 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0104 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0211 a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0005g0022 a0001c0001t0005g0056 a0001c0001t0005g0073 a0001c0001t0005g0096 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0006g0005 a0001c0001t0006g0010 a0001c0001t0006g0049 a0001c0001t0006g0075 a0001c0001t0006g0105 a0001c0001t0006g0115 a0001c0001t0006g0160 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0007g0019 a0001c0001t0007g0114 a0001c0001t0008g0041 a0001c0001t0008g0058 a0001c0001t0008g0207 a0001c0001t0008g0209 a0001c0001t0009g0179 a0001c0001t0010g0018 a0001c0001t0010g0046 a0001c0001t0010g0192 a0001c0001t0010g0208 a0001c0001t0010g0213 a0001c0001t0011g0012 a0001c0001t0011g0024 a0001c0001t0011g0106 a0001c0001t0011g0191 a0001c0001t0011g0222 a0001c0001t0012g0128 a0001c0001t0012g0166 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0014g0194 a0001c0001t0014g0212 a0001c0001t0014g0221 a0001c0001t0015g0023 a0001c0001t0015g0197 a0001c0001t0015g0203 a0001c0001t0016g0126 a0001c0001t0016g0178 a0001c0001t0016g0200 a0001c0001t0017g0039 a0001c0001t0017g0206 a0001c0001t0018g0030 a0001c0001t0018g0055 a0001c0001t0018g0226 a0001c0001t0019g0109 a0001c0001t0019g0165 a0001c0001t0020g0011 a0001c0001t0020g0130 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0023g0038 a0001c0001t0023g0216 a0001c0001t0024g0133 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0028g0127 a0001c0001t0030g0141 a0001c0001t0031g0121 a0001c0001t0032g0175 a0001c0001t0033g0205 a0001c0001t0035g0198 a0001c0001t0036g0021 a0001c0001t0037g0129 a0001c0001t0038g0051 a0001c0001t0040g0142 a0001c0001t0041g0118 a0001c0001t0042g0176 a0001c0001t0043g0193 a0001c0001t0044g0086 a0001c0001t0045g0102 a0001c0001t0046g0204 a0001c0001t0047g0001 a0001c0001t0048g0103 a0001c0001t0049g0085 a0001c0001t0050g0020 a0001c0001t0051g0135 a0001c0001t0052g0196 a0001c0001t0053g0137 a0001c0001t0054g0093 a0001c0001t0055g0134 a0001c0001t0056g0053 a0001c0001t0057g0008 a0001c0001t0058g0184 a0001c0001t0059g0124 a0001c0001t0060g0125 a0001c0001t0061g0100 a0001c0002t0008g0219 a0001c0002t0008g0220 a0001c0002t0021g0014 a0001c0002t0021g0217 a0002c0003t0017g0131 a0003c0004t0003g0029 a0004c0005t0034g0140	199	226	0.8805	-13	c.-11 others(32): Show c.-112-8925_-112-8913delAATATGTATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(12): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG02040.hp1 HG02109.hp1 HG02809.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp2 NA18952.hp2 NA18962.hp1 NA19043.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0038 a0001c0001t0043 a0001c0001t0056 a0001c0002t0008	a0001c0001t0002g0083 a0001c0001t0004g0045 a0001c0001t0004g0078 others(12): Show a0001c0001t0002g0083 a0001c0001t0004g0045 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0113 a0001c0001t0005g0056 a0001c0001t0006g0225 a0001c0001t0008g0041 a0001c0001t0010g0213 a0001c0001t0014g0221 a0001c0001t0020g0011 a0001c0001t0038g0051 a0001c0001t0043g0193 a0001c0001t0056g0053 a0001c0002t0008g0220	15	226	0.0664	-13	c.-18 others(32): Show c.-18+53324_-18+53336delTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95155475	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0014 a0001c0002t0021g0217 a0001c0002t0021g0014 a0001c0002t0021g0217	2	226	0.0089	-13	c.82 others(22): Show c.822_*834delTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	13/13	822	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03710.hp2 HG02055.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0049 a0001c0001t0007 a0001c0001t0049	a0001c0001t0007g0097 a0001c0001t0049g0016 a0001c0001t0007g0097 a0001c0001t0049g0016	2	224	0.0089	-13	c.-43 others(24): Show c.-4316_-4304delTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202407731	GGCGACGG others(6): Show GGCGACGGAGTTCC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0204 a0001c0001t0008g0204	1	224	0.0045	-13	c.76+ others(30): Show c.76+30183_76+30195delCGACGGAGTTCCG	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434899	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG03579.hp1 others(2): Show HG02895.hp2 HG03139.hp2 HG03579.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0152 a0001c0001t0005g0155 a0001c0001t0013g0149 others(2): Show a0001c0001t0005g0152 a0001c0001t0005g0155 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0013g0151	5	224	0.0223	-13	c.77- others(30): Show c.77-29908_77-29896delAAAAAAAAATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434901	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG03041.hp2 HG02572.hp2 HG02809.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0154 a0001c0001t0005g0157 a0001c0001t0011g0159 a0001c0001t0005g0154 a0001c0001t0005g0157 a0001c0001t0011g0159	3	224	0.0134	-13	c.77- others(30): Show c.77-29906_77-29894delAAAAAAATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202480953	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0216 a0001c0001t0034g0216	1	224	0.0045	-13	c.418 others(32): Show c.418+13279_418+13291delAAAAAAAAAAAAA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMT2_chr7_112814147_112944875	112890370	CACCTCTG others(6): Show CACCTCTGAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show HG01192.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 others(2): Show a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 a0001c0002t0008g0036 a0001c0002t0008g0037	6	206	0.0291	-13	c.473 others(30): Show c.473+5186_473+5198delTTTTTTCAGAGGT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112902426	AAACAAAA others(6): Show AAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG03927.hp1 HG02615.hp2 HG02717.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0189 a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0005g0189 a0001c0001t0006g0085 a0001c0001t0006g0087	3	206	0.0146	-13	c.303 others(30): Show c.303-6700_303-6688delGTTTTTTTTTGTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar

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