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 per page.

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
ATP11A_chr13_112685038_112892168	112815252	TCACCCTT others(33): Show TCACCCTTCAGACACACAGTCCAGATCTGCGATACCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0049 a0001c0009t0004 a0001c0009t0049	a0001c0009t0004g0140 a0001c0009t0049g0141 a0001c0009t0004g0140 a0001c0009t0049g0141	2	254	0.0079	-40	c.442 others(55): Show c.442-767_442-728delATCTGCGATACCTTCCACACCCTTCAGACA CACAGTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B4_chr1_203621832_203749081	203624245	GGAAGGAA others(33): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	318	0.0031	-40	c.-34 others(51): Show c.-3438_-3399delGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		2586		chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203678061	AGTGCTGC others(33): Show AGTGCTGCAGCAGCCTGAAGCCCTAGCCCCGGGCCCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0011 a0001c0001t0029g0011	1	318	0.0031	-40	c.-46 others(59): Show c.-464-4678_-464-4639delGCTGCAGCAGCCTGAAGCCCTAGCCC CGGGCCCCTCCTGT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130986893	GTTTAGTT others(33): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTAGTTTAGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	382	0.0026	-40	c.184 others(59): Show c.1840-6055_1840-6016delTAGTTTAGTTTAGTTTAGTTTAGTTT AGTTAGTTTAGTTT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784235	CGTATATA others(33): Show CGTATATATATATATATACATATATATATATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0014	a0001c0001 a0001c0005 a0001c0007 others(19): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0014 a0001c0030 a0002c0002 a0002c0003 a0002c0016 a0002c0019 a0002c0025 a0002c0046 a0003c0004 a0003c0022 a0004c0011 a0004c0018 a0005c0006 a0006c0009 a0007c0017 a0008c0024 a0011c0028 a0014c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0001c0030t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0016t0001 a0002c0019t0001 a0002c0019t0003 a0002c0025t0001 a0002c0046t0001 a0003c0004t0001 a0003c0022t0001 a0004c0011t0001 a0004c0018t0001 a0005c0006t0001 a0006c0009t0001 a0007c0017t0001 a0007c0017t0002 a0008c0024t0002 a0011c0028t0001 a0014c0047t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0051 others(136): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0106 a0001c0001t0001g0184 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0368 a0001c0001t0002g0200 a0001c0001t0002g0241 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0003g0327 a0001c0001t0003g0343 a0001c0001t0007g0375 a0001c0001t0013g0372 a0001c0005t0001g0032 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0232 a0001c0005t0001g0313 a0001c0007t0001g0055 a0001c0007t0001g0310 a0001c0007t0001g0318 a0001c0007t0001g0321 a0001c0007t0001g0333 a0001c0008t0001g0234 a0001c0008t0001g0235 a0001c0014t0001g0267 a0001c0030t0001g0204 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0227 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0247 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0307 a0002c0002t0001g0340 a0002c0002t0001g0369 a0002c0002t0003g0239 a0002c0003t0001g0240 a0002c0003t0001g0287 a0002c0003t0001g0316 a0002c0003t0001g0329 a0002c0016t0001g0284 a0002c0019t0001g0236 a0002c0019t0003g0279 a0002c0025t0001g0205 a0002c0025t0001g0286 a0002c0046t0001g0367 a0003c0004t0001g0105 a0003c0004t0001g0207 a0003c0004t0001g0212 a0003c0004t0001g0226 a0003c0004t0001g0298 a0003c0004t0001g0341 a0003c0022t0001g0289 a0004c0011t0001g0060 a0004c0011t0001g0266 a0004c0011t0001g0273 a0004c0018t0001g0026 a0004c0018t0001g0280 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0268 a0005c0006t0001g0276 a0005c0006t0001g0332 a0006c0009t0001g0202 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0224 a0006c0009t0001g0258 a0006c0009t0001g0281 a0007c0017t0001g0353 a0007c0017t0002g0323 a0008c0024t0002g0324 a0008c0024t0002g0325 a0011c0028t0001g0059 a0014c0047t0001g0257	139	376	0.3697	-40	c.-18 others(57): Show c.-18+1883_-18+1922delATATATATGTATATATATATATGTATAT ATATATATATAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546472	ATGTGTAT others(33): Show ATGTGTATATATATATATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00741.hp1 others(14): Show HG00544.hp2 HG00621.hp2 HG00741.hp1 HG01928.hp1 HG02004.hp1 HG02027.hp1 HG02293.hp1 HG02717.hp2 HG02886.hp1 HG03579.hp1 HG04184.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18957.hp1 NA18983.hp2 NA19000.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0005c0009t0001 a0001c0001t0001 a0001c0001t0002 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0235 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0262 a0005c0009t0001g0218	17	410	0.0415	-40	c.-46 others(51): Show c.-4669_-4630delCATATATATATATATATATATATATATATATATA TACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3896		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53819618	ATATATAC others(33): Show ATATATACATATGTATATACAAATGTATATATGTATATACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	286	0.0070	-40	c.307 others(57): Show c.307-2128_307-2089delCGTATATACATATATACATTTGTATATA CATATGTATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25513396	GGATGGCG others(33): Show GGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01070.hp1 others(2): Show HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0001 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0036 a0001c0001t0011g0061 a0001c0001t0011g0062 others(2): Show a0001c0001t0001g0036 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005	5	122	0.0410	-40	c.222 others(59): Show c.222-16570_222-16531delCTAGATGTGATGGCGGCCGGGAAGAG GCGCTCCTCACTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(92): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0005 a0001c0018 others(3): Show a0001c0001 a0001c0005 a0001c0018 a0002c0002 a0004c0008 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0005t0016 a0001c0018t0007 a0002c0002t0014 a0002c0002t0019 a0004c0008t0004 a0008c0013t0017	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 others(92): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0002g0202 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0276 a0001c0001t0002g0292 a0001c0001t0003g0194 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0269 a0001c0001t0004g0022 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0126 a0001c0001t0004g0138 a0001c0001t0005g0011 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0039 a0001c0001t0005g0085 a0001c0001t0005g0136 a0001c0001t0006g0074 a0001c0001t0006g0110 a0001c0001t0007g0206 a0001c0001t0007g0210 a0001c0001t0007g0219 a0001c0001t0007g0226 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0007g0263 a0001c0001t0007g0270 a0001c0001t0007g0283 a0001c0001t0007g0300 a0001c0001t0008g0020 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0037 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0060 a0001c0001t0008g0079 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0009g0232 a0001c0001t0009g0235 a0001c0001t0009g0249 a0001c0001t0009g0262 a0001c0001t0009g0288 a0001c0001t0010g0152 a0001c0001t0010g0164 a0001c0001t0011g0174 a0001c0001t0011g0191 a0001c0001t0012g0178 a0001c0001t0012g0183 a0001c0001t0013g0216 a0001c0001t0013g0223 a0001c0001t0015g0156 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0016g0021 a0001c0001t0016g0040 a0001c0001t0017g0217 a0001c0001t0017g0248 a0001c0001t0027g0307 a0001c0001t0028g0308 a0001c0001t0038g0190 a0001c0001t0044g0197 a0001c0001t0048g0312 a0001c0001t0049g0309 a0001c0005t0016g0056 a0001c0018t0007g0234 a0002c0002t0014g0274 a0002c0002t0019g0038 a0002c0002t0019g0137 a0004c0008t0004g0004 a0008c0013t0017g0260	95	314	0.3026	-40	c.181 others(55): Show c.181+279_181+318delATATATATATATATATATATATATATATAT ATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57807048	CACTGGAA others(33): Show CACTGGAAGTGTCTCACATGCAACAATTTTAAAATGCATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	314	0.0032	-40	c.-41 others(51): Show c.-4116_-4077delAGATGCATTTTAAAATTGTTGCATGTGAGACACT TCCAGT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3734		chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154348694	AGAGGCCT others(33): Show AGAGGCCTCTGCGTCAGCCTGGTCCCAGGTGCTGTGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02257.hp1 others(9): Show HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0004 a0001c0004t0028 a0001c0010t0001 a0001c0004t0004 a0001c0004t0028 a0001c0010t0001	a0001c0004t0004g0012 a0001c0004t0004g0137 a0001c0004t0004g0146 others(2): Show a0001c0004t0004g0012 a0001c0004t0004g0137 a0001c0004t0004g0146 a0001c0004t0028g0147 a0001c0010t0001g0023	12	382	0.0314	-40	c.329 others(56): Show c.3295-135_3295-96delCGTCAGCCTGGTCCCAGGTGCTGTGGGTC GGAGGCCTCTG	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP8B2_chr1_154320525_154356304	154348720	AGGTGCTG others(33): Show AGGTGCTGTGGGTCGGAGGCCTCTGTGTCAGCCTGGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01943.hp2 HG01981.hp1 others(9): Show HG00597.hp1 HG01943.hp2 HG01981.hp1 NA18942.hp1 NA18954.hp1 NA18965.hp2 NA18968.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA19012.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0044 a0001c0002t0003g0122 others(3): Show a0001c0002t0003g0011 a0001c0002t0003g0044 a0001c0002t0003g0122 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128	12	382	0.0314	-40	c.329 others(56): Show c.3295-106_3295-67delGGAGGCCTCTGTGTCAGCCTGGTCCCGGG TGCTGTGGGTC	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP8B3_chr19_1777075_1817276	1808521	ACCAGCAT others(33): Show ACCAGCATTTACTGAGCACCTGCTGAATGCAAGGCCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02559.hp1 others(4): Show HG01109.hp2 HG01891.hp2 HG02559.hp1 HG02723.hp2 HG03471.hp2 NA18522.hp2 NA20300.hp1	a0000 a0002 a0000 a0002	a0000c0027 a0000c0040 a0000c0050 others(2): Show a0000c0027 a0000c0040 a0000c0050 a0002c0003 a0002c0007	a0000c0027t0008 a0000c0040t0008 a0000c0050t0008 others(2): Show a0000c0027t0008 a0000c0040t0008 a0000c0050t0008 a0002c0003t0005 a0002c0007t0004	a0000c0027t0008g0263 a0000c0040t0008g0265 a0000c0050t0008g0236 others(3): Show a0000c0027t0008g0263 a0000c0040t0008g0265 a0000c0050t0008g0236 a0002c0003t0005g0262 a0002c0003t0005g0264 a0002c0007t0004g0002	7	390	0.0180	-40	c.403 others(55): Show c.403-226_403-187delCCTGAGGCCTTGCATTCAGCAGGTGCTCAG TAAATGCTGG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	4/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50072956	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	254	0.0039	-40	c.87+ others(55): Show c.87+1131_87+1170delTATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0236 a0001c0003t0008g0236	1	312	0.0032	-40	c.166 others(59): Show c.1668+1234_1668+1273delTATATATATATATATATATATATATA TATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79072702	CCCCCCCA others(33): Show CCCCCCCACCTCCCAGACCAGGCGGCTGCTGGGCGGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(104): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA18992.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0002 a0005 a0006 others(5): Show a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0002c0002 a0002c0005 a0002c0032 others(9): Show a0002c0002 a0002c0005 a0002c0032 a0002c0033 a0005c0009 a0005c0016 a0006c0012 a0007c0031 a0008c0030 a0009c0034 a0010c0029 a0011c0035	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0032t0005 a0002c0033t0002 a0005c0009t0005 a0005c0016t0001 a0006c0012t0003 a0007c0031t0002 a0008c0030t0001 a0009c0034t0002 a0010c0029t0004 a0011c0035t0002	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(104): Show a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0002c0032t0005g0195 a0002c0033t0002g0214 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170 a0005c0016t0001g0169 a0005c0016t0001g0171 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0007c0031t0002g0251 a0008c0030t0001g0254 a0009c0034t0002g0186 a0010c0029t0004g0220 a0011c0035t0002g0201	107	298	0.3591	-40	c.119 others(57): Show c.119+3191_119+3230delCAGGCGGCTGCTGGGCGGGGGCGCCCCC CACCTCCCAGAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79072965	CAGAGACG others(33): Show CAGAGACGCTCCTCACTTCCTAGACGGGATGACGGCCAGGA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	298	0.0034	-40	c.119 others(57): Show c.119+3441_119+3480delACGCTCCTCACTTCCTAGACGGGATGAC GGCCAGGAAGAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79365732	CCCATGCG others(33): Show CCCATGCGTGATGGAAGGACATCTCCGTGGACAGGGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0204 a0002c0002t0003g0204	1	298	0.0034	-40	c.301 others(59): Show c.3012+6280_3012+6319delATGGAAGGACATCTCCGTGGACAGGG ACAGTCCATGCGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79365885	GGGGACAG others(33): Show GGGGACAGCCTGTGTGTGATGGAAGGACATCTCCGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0285 a0001c0006t0007g0286	2	298	0.0067	-40	c.301 others(59): Show c.3012+6454_3012+6493delTCCGTGGACAGGGACAGCCTGTGTGT GATGGAAGGACATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AUTS2_chr7_69593475_70798506	69665772	TGTACAGG others(33): Show TGTACAGGTTGCCATATTTGCCAGAAATCAGCTTTACACAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	76	0.0132	-40	c.309 others(59): Show c.309+65813_309+65852delACAGGTTGCCATATTTGCCAGAAATC AGCTTTACACAAGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02135.hp2 NA20129.hp1 HG01361.hp2 HG02135.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0169 a0002c0002t0002g0149 a0003c0003t0001g0227 a0001c0001t0001g0169 a0002c0002t0002g0149 a0003c0003t0001g0227	3	446	0.0067	-40	c.287 others(55): Show c.287+699_287+738delACACACACACACACACACACACACACACAC ACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXIN1_chr16_282440_357723	285966	TCCCAACC others(33): Show TCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	378	0.0027	-40	c.21 others(51): Show c.2116_*2155delGTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGG GTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1473		chr16	TogoVar
AZU1_chr19_822837_837018	831990	TGTAATAA others(33): Show TGTAATAAAGAAGCCGATCTCTCCTCTGCTCCTGGTTTCTG	T T	splice_region_variant splice_region_variant	LOW	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	391	0.0026	-40	c.11 others(49): Show c.114_*153delGTAATAAAGAAGCCGATCTCTCCTCTGCTCCTGGTT TCTG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	5/5			chr19	TogoVar
AZU1_chr19_822837_837018	832124	TCAGATGT others(33): Show TCAGATGTTCAGAGATTCCCTCAAAGCCCGGGAAGCAGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	-40	c.24 others(49): Show c.248_*287delCAGATGTTCAGAGATTCCCTCAAAGCCCGGGAAGCA GGGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		107		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167588826	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0063 a0001c0001t0020g0063	1	118	0.0085	-40	c.-40 others(61): Show c.-409-58063_-409-58024delTTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876057	ATATATAT others(33): Show ATATATATATGTATATATATATATACGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0041 a0001c0001t0035g0041	1	118	0.0085	-40	c.60 others(51): Show c.6038_*6077delTATATATATGTATATATATATATACGTATATATA TATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2013		chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39623217	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02976.hp2 HG02145.hp1 HG02572.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0026 a0001c0001t0002 a0001c0003t0026	a0001c0001t0002g0138 a0001c0003t0026g0134 a0001c0003t0026g0135 a0001c0001t0002g0138 a0001c0003t0026g0134 a0001c0003t0026g0135	3	336	0.0089	-40	c.-39 others(61): Show c.-392+10154_-392+10193delCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GNT5_chr3_183248253_183278385	183262122	ATCGTTTT others(33): Show ATCGTTTTATGATACTTTATTATATACACTAAGGGTTAGTC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0022 a0001c0001t0001g0189 a0001c0001t0008g0022 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0189 a0001c0001t0008g0022 a0001c0001t0008g0181	5	390	0.0128	-40	c.-30 others(59): Show c.-301-7374_-301-7335delCGTTTTATGATACTTTATTATATACA CTAAGGGTTAGTCT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT5_chr3_183248253_183278385	183262124	CGTTTTAT others(33): Show CGTTTTATGATACTTTATTATATACACTAAGGGTTAGTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00735.hp1 others(81): Show HG00438.hp1 HG00597.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18974.hp1 NA18984.hp1 NA18987.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19070.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 a0005c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(65): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0002g0036 a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0004g0021 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0014g0020 a0001c0001t0016g0017 a0005c0005t0001g0017	84	390	0.2154	-40	c.-30 others(59): Show c.-301-7277_-301-7238delTTATATACACTAAGGGTTAGTCTTGT TTTATGATACTTTA	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77032668	TATATATA others(33): Show TATATATATATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00741.hp1 others(15): Show HG00280.hp2 HG00735.hp2 HG00741.hp1 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02055.hp2 HG02486.hp2 HG02622.hp2 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0002c0003t0001	a0001c0001t0007g0008 a0001c0002t0003g0021 a0001c0002t0005g0005 others(3): Show a0001c0001t0007g0008 a0001c0002t0003g0021 a0001c0002t0005g0005 a0001c0002t0005g0054 a0001c0002t0012g0018 a0002c0003t0001g0004	18	442	0.0407	-40	c.-18 others(51): Show c.-1810_-1771delATATATATATACACATACATACATACATATATAT ATATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1729		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82972643	CCACCACA others(33): Show CCACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp2 HG03453.hp2 others(2): Show HG02886.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0016 a0001c0011t0001 a0001c0011t0010 others(1): Show a0001c0002t0016 a0001c0011t0001 a0001c0011t0010 a0001c0011t0011	a0001c0002t0016g0135 a0001c0011t0001g0144 a0001c0011t0010g0146 others(2): Show a0001c0002t0016g0135 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0011g0139	5	266	0.0188	-40	c.460 others(57): Show c.460-6937_460-6898delAGTACCGGGTCCTTCTGGCCCCTATGAG TGTGGTGTGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83017921	AAACACGG others(33): Show AAACACGGTGCGCCTGTATCAGGTACCACACGTGCTCCGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03453.hp1 others(2): Show HG01891.hp2 HG02451.hp2 HG03453.hp1 HG03486.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0017 a0001c0011 a0004c0017	a0001c0011t0011 a0001c0011t0012 a0004c0017t0002 a0001c0011t0011 a0001c0011t0012 a0004c0017t0002	a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 others(2): Show a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0004c0017t0002g0136 a0004c0017t0002g0137	5	266	0.0188	-40	c.298 others(57): Show c.298-3442_298-3403delCACGGAGCACGTGTGGTACCTGATACAG GCGCACCGTGTT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83017927	GGTGCGCC others(33): Show GGTGCGCCTGTATCAGGTACCACACGTGCTCCGTGAACACC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(7): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02055.hp2 HG02572.hp2 HG03041.hp1 HG03130.hp1 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0001c0013 a0001c0014 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0011t0030 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0030 a0001c0013t0012 a0001c0014t0002 a0001c0029t0001	a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 others(6): Show a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0011t0030g0143 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0002g0011 a0001c0029t0001g0141	10	266	0.0376	-40	c.298 others(57): Show c.298-3448_298-3409delGGTGTTCACGGAGCACGTGTGGTACCTG ATACAGGCGCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411490	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0013 a0013	a0013c0097 a0013c0097	a0013c0097t0001 a0013c0097t0001	a0013c0097t0001g0235 a0013c0097t0001g0235	1	332	0.0030	-40	c.178 others(59): Show c.178+11577_178+11616delGCCTGCCTGCCTGCCTGCCTGCCTTC CTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411494	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0014 a0001c0007t0009g0014	1	332	0.0030	-40	c.178 others(59): Show c.178+11581_178+11620delGCCTGCCTGCCTGCCTGCCTTCCTTC CTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	101986833	GTATATAT others(33): Show GTATATATATGTGTATATATATGTATATATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	284	0.0035	-40	c.120 others(61): Show c.1207-34679_1207-34640delATATATATGTGTATATATATGTAT ATATATATGTGTGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BATF2_chr11_64982945_65001971	64983532	TTTTATAT others(33): Show TTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	404	0.0025	-40	c.55 others(51): Show c.5557_*5596delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4412		chr11	TogoVar
BATF2_chr11_64982945_65001971	64983537	TATTTTAT others(33): Show TATTTTATTTTATATTTTATTTTATATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(15): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG02698.hp2 HG02895.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 NA18954.hp1 NA18971.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0001t0012g0069	18	404	0.0446	-40	c.55 others(51): Show c.5552_*5591delTAAAATAAAATAAAATATAAAATAAAATATAAAA TAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4407		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04184.hp2 NA18941.hp1 others(4): Show HG02135.hp2 HG04184.hp2 NA18941.hp1 NA18961.hp2 NA18983.hp2 NA19070.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0120 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0162 a0001c0001t0002g0207 a0001c0001t0002g0209	7	216	0.0324	-40	c.635 others(57): Show c.6353+146_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBS7_chr4_121819329_121875474	121855851	CACATGTA others(33): Show CACATGTATGTGTATATATGTATATGTACATATATGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(35): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG02015.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03831.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp2 NA18986.hp1 NA18998.hp2 NA19001.hp1 NA19009.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0007g0211 a0001c0002t0001g0022 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091	38	374	0.1016	-40	c.529 others(55): Show c.529-330_529-291delATGTACATATATGTACATATACATATATAC ACATACATGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	5/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33294330	TATCTATC others(33): Show TATCTATCTATCTATCTATCTATCTCTTTGTCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0043 a0002c0002t0019g0043	1	268	0.0037	-40	c.101 others(61): Show c.1016+20378_1016+20417delTATCTATCTATCTATCTATCTCTT TGTCCATCCATCCATC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33304351	GTCTGGGA others(33): Show GTCTGGGAGGTGAGGAGCACCTCTGCCCGGCCGCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02257.hp2 others(8): Show HG00642.hp1 HG01884.hp2 HG02257.hp2 HG02572.hp2 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 others(8): Show a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0007g0228 a0001c0001t0017g0226 a0001c0009t0001g0240 a0001c0009t0001g0241 a0002c0002t0001g0219	11	268	0.0410	-40	c.101 others(61): Show c.1016+30412_1016+30451delCACCTCTGCCCGGCCGCCACCCCA TCTGGGAGGTGAGGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107638778	TATACACA others(33): Show TATACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp1 others(10): Show HG00140.hp2 HG00639.hp2 HG01081.hp1 HG01168.hp1 HG01346.hp1 HG01433.hp2 HG01981.hp2 HG02145.hp1 HG03017.hp2 HG03239.hp1 HG03704.hp1 HG06807.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 a0001c0001t0001 a0001c0001t0004 a0001c0001t0035	a0001c0001t0001g0104 a0001c0001t0004g0099 a0001c0001t0004g0105 others(10): Show a0001c0001t0001g0104 a0001c0001t0004g0099 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0004g0155 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0198 a0001c0001t0035g0107	13	222	0.0586	-40	c.-83 others(57): Show c.-83-7056_-83-7017delTACACACACACACACACACACACACACA CACACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAS1_chr20_53938541_54075594	53974008	GTCAGCAC others(33): Show GTCAGCACTTTGTGTCTAGCTTAAGGATGTAAATGCACCAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01516.hp2 HG00738.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0045 a0003c0003t0013 a0003c0003t0045	a0003c0003t0013g0048 a0003c0003t0045g0011 a0003c0003t0013g0048 a0003c0003t0045g0011	2	364	0.0055	-40	c.131 others(59): Show c.1317+1341_1317+1380delTTGGTGCATTTACATCCTTAAGCTAG ACACAAAGTGCTGA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	9/12			chr20	TogoVar
BCL11B_chr14_99164287_99277197	99199673	TGTGTGTG others(33): Show TGTGTGTGTGTGCGCGCGCGCGCGCACGTGCACGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0010 a0001c0001t0037g0010	1	350	0.0029	-40	c.641 others(59): Show c.641-23518_641-23479delGCACACACGTGCACGTGCGCGCGCGC GCGCACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229003	AATGGATG others(33): Show AATGGATGGATGGATGGATGGATGGATGGATGGATGGATGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0057 a0001c0002t0049g0057	1	350	0.0029	-40	c.640 others(57): Show c.640+2302_640+2341delGCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(33): Show TTATATATATAAATATATATATATATATGTATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp2 NA18906.hp1 others(1): Show HG02258.hp1 HG03195.hp2 NA18906.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0236 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0236 a0001c0001t0002g0024 a0001c0001t0002g0031	4	257	0.0156	-40	c.55 others(51): Show c.5547_*5586delTATATATATATACATATATATATATATATTTATA TATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4728		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(33): Show GTATGTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00621.hp2 others(50): Show HG00099.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18957.hp2 NA18978.hp2 NA18986.hp2 NA19084.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0045 a0001c0001t0063 a0001c0002t0001 a0001c0002t0042 a0001c0004t0016 a0001c0005t0007 a0001c0014t0032	a0001c0001t0002g0001 a0001c0001t0002g0114 a0001c0001t0002g0121 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0246 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0291 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0004g0282 a0001c0001t0004g0302 a0001c0001t0005g0029 a0001c0001t0005g0098 a0001c0001t0005g0131 a0001c0001t0005g0134 a0001c0001t0005g0257 a0001c0001t0005g0341 a0001c0001t0008g0311 a0001c0001t0010g0124 a0001c0001t0011g0354 a0001c0001t0018g0242 a0001c0001t0018g0259 a0001c0001t0018g0266 a0001c0001t0018g0342 a0001c0001t0020g0169 a0001c0001t0026g0289 a0001c0001t0026g0293 a0001c0001t0045g0288 a0001c0001t0063g0362 a0001c0002t0001g0196 a0001c0002t0042g0159 a0001c0004t0016g0066 a0001c0004t0016g0093 a0001c0004t0016g0303 a0001c0005t0007g0061 a0001c0014t0032g0217	53	368	0.1440	-40	c.241 others(57): Show c.241-2287_241-2248delTATATATATATATATATATATATATATA TATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEST3_chr12_69648609_69704303	69700888	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02809.hp2 others(2): Show HG02055.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0011 a0001c0004t0001 a0001c0004t0011	a0001c0004t0001g0015 a0001c0004t0001g0062 a0001c0004t0011g0060 others(1): Show a0001c0004t0001g0015 a0001c0004t0001g0062 a0001c0004t0011g0060 a0001c0004t0011g0061	5	366	0.0137	-40	c.-17 others(51): Show c.-1739_-1700delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1586		chr12	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG01258.hp1 others(5): Show HG00735.hp2 HG01255.hp2 HG01258.hp1 HG02976.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0002t0001g0067 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0203 a0001c0004t0001g0033	8	276	0.0290	-40	c.490 others(55): Show c.490-716_490-677delTATATATATATATATATATATATATATATA TATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar

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