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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AATK_chr17_81112295_81171221	81140924	ACCGTGGG others(40): Show ACCGTGGGACCATGGGGCCGTGAGCCGTGGGGACCGTGAGCCGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02809.hp1 HG02895.hp1 HG01255.hp2 HG02809.hp1 HG02895.hp1	a0012 a0015 a0012 a0015	a0012c0016 a0015c0022 a0012c0016 a0015c0022	a0012c0016t0001 a0015c0022t0012 a0012c0016t0001 a0015c0022t0012	a0012c0016t0001g0184 a0015c0022t0012g0246 a0015c0022t0012g0266 a0012c0016t0001g0184 a0015c0022t0012g0246 a0015c0022t0012g0266	3	368	0.0082	-47	c.56- others(62): Show c.56-6470_56-6424delCCCCACGGCTCACGGTCCCCACGGCTCACG GCCCCATGGTCCCACGG		AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13						chr17	TogoVar
AATK_chr17_81112295_81171221	81143478	CGCAGCCC others(40): Show CGCAGCCCCTGCCTCCCGTGTCCACGCAGCCTCACTTCCCCCAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00733.hp2 others(30): Show HG00280.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04184.hp1 NA18747.hp1 NA18945.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0016 a0018 a0037	a0001c0001 a0001c0011 a0002c0002 others(14): Show a0001c0001 a0001c0011 a0002c0002 a0002c0073 a0003c0003 a0003c0007 a0003c0009 a0003c0023 a0003c0044 a0004c0005 a0004c0029 a0004c0035 a0005c0021 a0006c0017 a0016c0026 a0018c0072 a0037c0036	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0002c0073t0007 a0003c0003t0002 a0003c0007t0001 a0003c0009t0001 a0003c0023t0001 a0003c0044t0002 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0005c0021t0001 a0006c0017t0002 a0016c0026t0001 a0018c0072t0001 a0037c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0011t0001g0198 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0011t0001g0198 a0002c0002t0001g0048 a0002c0002t0001g0128 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0073t0007g0196 a0003c0003t0002g0096 a0003c0003t0002g0197 a0003c0003t0002g0220 a0003c0003t0002g0307 a0003c0007t0001g0190 a0003c0009t0001g0245 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0044t0002g0252 a0004c0005t0001g0086 a0004c0005t0001g0113 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0005c0021t0001g0337 a0006c0017t0002g0124 a0006c0017t0002g0126 a0016c0026t0001g0011 a0018c0072t0001g0322 a0037c0036t0001g0079	33	368	0.0897	-47	c.56- others(62): Show c.56-9024_56-8978delATGGCTGGGGGAAGTGAGGCTGCGTGGACA CGGGAGGCAGGGGCTGC		AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13						chr17	TogoVar
AATK_chr17_81112295_81171221	81143512	CTTCCCCC others(40): Show CTTCCCCCAGCCATGCAGCCCCCACCCCCCGTGTCCACGCAGCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0206 a0005c0021t0001g0206	1	368	0.0027	-47	c.56- others(62): Show c.56-9058_56-9012delTTGGGGCTGCGTGGACACGGGGGGTGGGGG CTGCATGGCTGGGGGAA		AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13						chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146192	AATATATA others(40): Show AATATATATATACGGAATATATATATACGGAATATATATATACGGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0006 a0013c0021t0006	a0013c0021t0006g0305 a0013c0021t0006g0305	1	348	0.0029	-47	c.25 others(58): Show c.2588_*2634delATTCCGTATATATATATTCCGTATATATATATTC CGTATATATATAT		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding					1814		chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(40): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp1 HG02572.hp2 HG03139.hp1	a0012 a0019 a0012 a0019	a0012c0102 a0019c0086 a0012c0102 a0019c0086	a0012c0102t0007 a0019c0086t0003 a0012c0102t0007 a0019c0086t0003	a0012c0102t0007g0188 a0019c0086t0003g0100 a0012c0102t0007g0188 a0019c0086t0003g0100	2	318	0.0063	-47	c.422 others(62): Show c.422-891_422-845delCCGGCCCGGCCCGGCCCGGCCCGGCCCGGC CCGGCCCGGCCCGGCCC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862671	GGCCGGGC others(40): Show GGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCACCCCCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0004 a0009c0018t0004	a0009c0018t0004g0292 a0009c0018t0004g0292	1	318	0.0031	-47	c.422 others(62): Show c.422-918_422-872delGGGGGTGGGGGTGGGGGCCGGCCCGGCCCG GCCCGGCCCGGCCCGGC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA6_chr17_69073702_69146895	69146192	AATATATA others(40): Show AATATATATATACGGAATATATATATACGGAATATATATATACGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0169 a0003c0009t0001g0169	1	326	0.0031	-47	c.-45 others(58): Show c.-4540_-4494delATTCCGTATATATATATTCCGTATATATATATTC CGTATATATATAT		ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding					4298		chr17	TogoVar
ABCC10_chr6_43422541_43455427	43449682	TCCTTTAT others(40): Show TCCTTTATAGCACTGCCTAGGGCCCTTTATAGCACATTATCTGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02257.hp2 HG01891.hp1 HG02109.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150	3	342	0.0088	-47	c.431 others(64): Show c.4316+195_4317-154delCCCTTTATAGCACTGCCTAGGGCCCTTT ATAGCACATTATCTGAGGG		ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC2_chr10_99777640_99857594	99838689	CCCCCACC others(40): Show CCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0001 a0004c0029t0001	a0004c0029t0001g0331 a0004c0029t0001g0331	1	336	0.0030	-47	c.361 others(66): Show c.3614+2404_3614+2450delACCTCCCTCCCGGATGGCACGGCTGG CCGGGCGGGGGGGCTGACCCC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99839460	GGGGGGCT others(40): Show GGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	336	0.0030	-47	c.361 others(66): Show c.3615-2501_3615-2455delCTGACCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGG		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99839470	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG02622.hp2 others(5): Show HG01496.hp2 HG02109.hp1 HG02622.hp2 HG02896.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA18987.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0004c0006 a0013c0018 a0001c0001 a0004c0006 a0013c0018	a0001c0001t0001 a0004c0006t0001 a0013c0018t0001 a0001c0001t0001 a0004c0006t0001 a0013c0018t0001	a0001c0001t0001g0298 a0004c0006t0001g0020 a0004c0006t0001g0036 others(5): Show a0001c0001t0001g0298 a0004c0006t0001g0020 a0004c0006t0001g0036 a0004c0006t0001g0078 a0004c0006t0001g0079 a0004c0006t0001g0088 a0004c0006t0001g0138 a0013c0018t0001g0007	8	336	0.0238	-47	c.361 others(66): Show c.3615-2491_3615-2445delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99839518	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01516.hp1 HG04228.hp1 others(3): Show HG00609.hp1 HG01516.hp1 HG04228.hp1 NA18967.hp1 NA18995.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0259 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0294	6	336	0.0179	-47	c.361 others(66): Show c.3615-2443_3615-2397delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50674002	CTCTCTCT others(40): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0230 a0002c0036t0001g0230	1	342	0.0029	-47	c.259 others(64): Show c.2599+346_2599+392delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTTTCTTTCTTTCTT		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30					INFO_REALIGN_3_PRIME	chr17	TogoVar
ABHD10_chr3_111974026_111998368	111994647	AGAAAGCT others(40): Show AGAAAGCTGAAAGAATTACTTGCCACATAACTATTCCCAGGATAGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	424	0.0024	-47	c.29 others(58): Show c.2927_*2973delGAAAGCTGAAAGAATTACTTGCCACATAACTATT CCCAGGATAGTCC		ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding					1280		chr3	TogoVar
ABR_chr17_998519_1184981	1131219	TCCCCCCT others(40): Show TCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCACACAGCTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02132.hp1 others(10): Show HG02015.hp2 HG02040.hp2 HG02132.hp1 HG02523.hp1 HG02698.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA18962.hp1 NA18980.hp1 NA19063.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0078 a0001c0001t0090 a0005c0008t0020	a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 others(10): Show a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 a0001c0001t0006g0233 a0001c0001t0007g0288 a0001c0001t0009g0046 a0001c0001t0013g0043 a0001c0001t0026g0027 a0001c0001t0030g0107 a0001c0001t0033g0327 a0001c0001t0078g0289 a0001c0001t0090g0301 a0005c0008t0020g0132	13	337	0.0386	-47	c.62- others(62): Show c.62-5899_62-5853delGAGCTGTGTGCGTGGCAGGCACTGCATTTG GTGTGCAAAGAGGGGGG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ACAA2_chr18_49777164_49818533	49800129	TGGGGGTC others(40): Show TGGGGGTCAGCCCCCGGCCGGCCAGCCACCCCGTCTGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(263): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0003c0004 a0004c0005 others(2): Show a0001c0001 a0003c0004 a0004c0005 a0005c0007 a0006c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0003c0004t0010 a0004c0005t0008 a0005c0007t0009 a0006c0008t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(209): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0200 a0001c0001t0003g0258 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0279 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0044 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0260 a0001c0001t0005g0271 a0001c0001t0005g0278 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0323 a0001c0001t0006g0011 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0006g0211 a0001c0001t0006g0214 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0237 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0243 a0001c0001t0006g0245 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0339 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0191 a0001c0001t0007g0213 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0007g0272 a0001c0001t0007g0290 a0001c0001t0007g0315 a0001c0001t0008g0215 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0224 a0001c0001t0008g0230 a0001c0001t0008g0231 a0001c0001t0008g0233 a0001c0001t0008g0236 a0001c0001t0008g0241 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0009g0016 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0009g0056 a0001c0001t0009g0066 a0001c0001t0010g0010 a0001c0001t0010g0208 a0001c0001t0011g0164 a0001c0001t0011g0166 a0001c0001t0011g0168 a0001c0001t0011g0244 a0001c0001t0011g0251 a0001c0001t0013g0089 a0001c0001t0014g0026 a0001c0001t0014g0065 a0001c0001t0014g0088 a0001c0001t0015g0085 a0001c0001t0015g0207 a0001c0001t0015g0292 a0001c0001t0017g0216 a0001c0001t0017g0225 a0001c0001t0021g0282 a0001c0001t0021g0327 a0001c0001t0022g0229 a0001c0001t0023g0340 a0001c0001t0024g0238 a0001c0001t0025g0228 a0001c0001t0033g0276 a0001c0001t0034g0297 a0001c0001t0035g0302 a0001c0001t0036g0287 a0001c0001t0038g0212 a0003c0004t0010g0204 a0003c0004t0010g0205 a0003c0004t0010g0206 a0004c0005t0008g0232 a0005c0007t0009g0073 a0006c0008t0002g0084	266	434	0.6129	-47	c.183 others(64): Show c.183+2511_184-2536delCACCTCCCTCCCAGACGGGGTGGCTGGC CGGCCGGGGGCTGACCCCC		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ADAM12_chr10_126007391_126393477	126128645	ATGTGGGA others(40): Show ATGTGGGAATGTGTGCAAGTGGGCGCCTGTGCGAGTGTGTGGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02970.hp1 others(1): Show HG02451.hp2 HG02886.hp2 HG02970.hp1 NA18522.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0001c0004 a0013c0041 a0001c0002 a0001c0004 a0013c0041	a0001c0002t0001 a0001c0002t0020 a0001c0004t0011 others(1): Show a0001c0002t0001 a0001c0002t0020 a0001c0004t0011 a0013c0041t0004	a0001c0002t0001g0042 a0001c0002t0020g0018 a0001c0004t0011g0177 others(1): Show a0001c0002t0001g0042 a0001c0002t0020g0018 a0001c0004t0011g0177 a0013c0041t0004g0015	4	252	0.0159	-47	c.416 others(64): Show c.416+6892_416+6938delCACACACCACACACTCGCACAGGCGCCC ACTTGCACACATTCCCACA		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22						chr10	TogoVar
ADAMTS10_chr19_8575240_8615715	8611975	AACGCCCC others(40): Show AACGCCCCCCCCCAGGGAGCTGGCCAGAGCCTTGGCCTTGGCTTTGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	384	0.0026	-47	c.-15 others(58): Show c.-1593_-1547delGACAAAGCCAAGGCCAAGGCTCTGGCCAGCTCCC TGGGGGGGGGCGT		ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding					1261		chr19	TogoVar
ADAMTS2_chr5_179105853_179350461	179277671	GACACCCC others(40): Show GACACCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01167.hp1 others(16): Show HG00423.hp1 HG00597.hp2 HG01167.hp1 HG02083.hp1 HG02486.hp1 HG03491.hp1 HG03669.hp2 NA18612.hp1 NA18747.hp1 NA18969.hp2 NA18982.hp1 NA18995.hp1 NA18998.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0014 a0017 a0034	a0001c0001 a0001c0022 a0001c0064 others(11): Show a0001c0001 a0001c0022 a0001c0064 a0002c0002 a0002c0007 a0003c0003 a0004c0006 a0005c0077 a0007c0005 a0008c0010 a0011c0020 a0014c0038 a0017c0027 a0034c0066	a0001c0001t0006 a0001c0001t0024 a0001c0022t0002 others(13): Show a0001c0001t0006 a0001c0001t0024 a0001c0022t0002 a0001c0064t0001 a0002c0002t0001 a0002c0007t0002 a0003c0003t0001 a0003c0003t0002 a0004c0006t0004 a0005c0077t0017 a0007c0005t0003 a0008c0010t0003 a0011c0020t0003 a0014c0038t0019 a0017c0027t0004 a0034c0066t0004	a0001c0001t0006g0094 a0001c0001t0024g0055 a0001c0022t0002g0102 others(16): Show a0001c0001t0006g0094 a0001c0001t0024g0055 a0001c0022t0002g0102 a0001c0064t0001g0057 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0007t0002g0038 a0003c0003t0001g0224 a0003c0003t0001g0268 a0003c0003t0002g0237 a0004c0006t0004g0270 a0005c0077t0017g0135 a0007c0005t0003g0222 a0008c0010t0003g0241 a0011c0020t0003g0047 a0011c0020t0003g0124 a0014c0038t0019g0213 a0017c0027t0004g0098 a0034c0066t0004g0099	19	276	0.0688	-47	c.535 others(64): Show c.535-4654_535-4608delTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGGGGGTGT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277718	AACCCCCC others(40): Show AACCCCCCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGAC	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0245 a0008c0010t0003g0245	1	276	0.0036	-47	c.535 others(64): Show c.535-4701_535-4655delGTCAGCCTTTGGTCTCGGGGGGTGTCAG CCTTTGGTCTCGGGGGGGT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277911	CCCCGAGA others(40): Show CCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0077 a0005c0077	a0005c0077t0017 a0005c0077t0017	a0005c0077t0017g0135 a0005c0077t0017g0135	1	276	0.0036	-47	c.535 others(64): Show c.535-4894_535-4848delAGGGGGTCAGCCGTTGGTCTCGGGGGGG GTCAGCCTTTGGTCTCGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277929	ACCCCCCC others(40): Show ACCCCCCCCGAGACCAACGGCTGACCCCCTCCAAGACCAAAGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp2 NA18612.hp1 others(4): Show HG00597.hp2 HG01071.hp2 NA18612.hp1 NA18966.hp2 NA18969.hp2 NA18982.hp1 NA19066.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0011 a0014	a0001c0001 a0002c0002 a0002c0007 others(4): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003 a0008c0010 a0011c0020 a0014c0038	a0001c0001t0006 a0002c0002t0001 a0002c0007t0002 others(4): Show a0001c0001t0006 a0002c0002t0001 a0002c0007t0002 a0003c0003t0001 a0008c0010t0003 a0011c0020t0003 a0014c0038t0019	a0001c0001t0006g0094 a0002c0002t0001g0010 a0002c0007t0002g0038 others(4): Show a0001c0001t0006g0094 a0002c0002t0001g0010 a0002c0007t0002g0038 a0003c0003t0001g0224 a0008c0010t0003g0245 a0011c0020t0003g0124 a0014c0038t0019g0213	7	276	0.0254	-47	c.535 others(64): Show c.535-4912_535-4866delGTCAGCCTTTGGTCTTGGAGGGGGTCAG CCGTTGGTCTCGGGGGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAP1_chr7_892900_959680	924392	CTCCGGGT others(40): Show CTCCGGGTTACACTGCAGGTCCACGCTGCACCCCCCGCCCTCCGGGTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03654.hp1 HG04115.hp1 HG01993.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009	3	14	0.2143	-47	c.305 others(64): Show c.305+2114_305+2160delAACCCGGAGGGCGGGGGGTGCAGCGTGG ACCTGCAGTGTAACCCGGA		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10						chr7	TogoVar
ADARB2_chr10_1172313_1742525	1235765	CAAAGAGC others(40): Show CAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0106 a0002c0002t0053g0106	1	106	0.0094	-47	c.136 others(66): Show c.1362-1967_1362-1921delATGGTGGGGCCCAGTGTGGTGGCTCT CGCCTGTAATCCCAGCTCTTT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237068	CCGGTGGT others(40): Show CCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0002c0002t0005 a0001c0001t0022 a0002c0002t0005	a0001c0001t0022g0015 a0002c0002t0005g0022 a0001c0001t0022g0015 a0002c0002t0005g0022	2	106	0.0189	-47	c.136 others(66): Show c.1362-3270_1362-3224delAGGCAGGGGGGAGTTAACCACCGGAG GCAAGAGGGAATTAACCACCG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237297	CCCCTCTC others(40): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	106	0.0094	-47	c.136 others(66): Show c.1362-3499_1362-3453delAGTAAACACCGGGAGGCAGGGGGGAG TAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238890	TTACTCCC others(40): Show TTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01884.hp1 others(5): Show HG00639.hp2 HG01243.hp1 HG01884.hp1 HG02027.hp2 HG02083.hp2 HG02602.hp2 NA19011.hp1 NA19086.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0015 others(1): Show a0001c0001 a0002c0002 a0005c0015 a0006c0012	a0001c0001t0011 a0001c0001t0055 a0002c0002t0004 others(5): Show a0001c0001t0011 a0001c0001t0055 a0002c0002t0004 a0002c0002t0005 a0002c0002t0027 a0002c0002t0038 a0005c0015t0014 a0006c0012t0007	a0001c0001t0011g0026 a0001c0001t0055g0089 a0002c0002t0004g0101 others(5): Show a0001c0001t0011g0026 a0001c0001t0055g0089 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0027g0021 a0002c0002t0038g0048 a0005c0015t0014g0008 a0006c0012t0007g0006	8	106	0.0755	-47	c.136 others(66): Show c.1361+3194_1361+3240delTCGCCAGAGGGAGGGAGAGGGGAGTA AACACCGGGATGCAGGGAGTA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239645	CCCCTCTC others(40): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0099 a0001c0001t0058g0099	1	106	0.0094	-47	c.136 others(66): Show c.1361+2439_1361+2485delAGTAAGCACCGGGAGGCAGAGGGGAG TAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239693	CCCCTCTG others(40): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0041 a0001c0007t0033g0041	1	106	0.0094	-47	c.136 others(66): Show c.1361+2391_1361+2437delAGTGAACACCGGGAGGGAGGGGGGAG TAAACACCGGGAGGCAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239885	CCCCTCTC others(40): Show CCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18995.hp1 NA18984.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0057 a0001c0001t0003 a0001c0001t0057	a0001c0001t0003g0085 a0001c0001t0057g0103 a0001c0001t0003g0085 a0001c0001t0057g0103	2	106	0.0189	-47	c.136 others(66): Show c.1361+2199_1361+2245delAGTGAACACCGGGAGGGAGAGGGGAG TGAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADGRL4_chr1_78884764_79011730	79001164	AAGGAAGG others(40): Show AAGGAAGGGAGAGGGGGGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(93): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG01106.hp1 HG01175.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp1 NA18943.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0006c0010 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0003c0003t0005 a0006c0010t0003 a0011c0013t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(89): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0212 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0150 a0001c0001t0003g0197 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0008g0278 a0001c0001t0013g0026 a0002c0002t0001g0034 a0002c0002t0001g0181 a0002c0006t0001g0001 a0002c0006t0001g0180 a0003c0003t0001g0120 a0003c0003t0005g0375 a0003c0003t0005g0376 a0003c0003t0005g0377 a0003c0003t0005g0378 a0006c0010t0003g0182 a0006c0010t0003g0183 a0011c0013t0001g0211	96	390	0.2462	-47	c.172 others(64): Show c.172+3859_172+3905delCCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCCCCCCTCTCCCTTCCT		ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14						chr1	TogoVar
AFF3_chr2_99540419_100147590	99626308	GCCTCCCT others(40): Show GCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCTCTCTCTTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18906.hp2 NA19043.hp1 HG02055.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015	a0001c0001t0005g0075 a0001c0001t0010g0057 a0001c0001t0015g0002 a0001c0001t0005g0075 a0001c0001t0010g0057 a0001c0001t0015g0002	3	100	0.0300	-47	c.118 others(68): Show c.1184+23271_1184+23317delAAGGAAGGAAAGAGAGAGGAGGGA AGGAAGGAAGGAAGGGAGGGAGG		AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24						chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573007	TTCTTCTT others(40): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03516.hp2 HG02615.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0012 a0001c0019t0007 a0001c0001t0012 a0001c0019t0007	a0001c0001t0012g0071 a0001c0019t0007g0056 a0001c0001t0012g0071 a0001c0019t0007g0056	2	98	0.0204	-47	c.163 others(66): Show c.163+78160_163+78206delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86633833	GTATATAT others(40): Show GTATATATATATAATGTATATATATATATAATGTATATATATAATGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00735.hp2 others(33): Show HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01978.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18944.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0012 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0023 a0001c0042 a0002c0005 a0002c0021 a0003c0040 a0006c0014 a0007c0033 a0008c0030 a0009c0035 a0009c0037 a0012c0046 a0020c0061 a0021c0048	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(31): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0006 a0001c0003t0002 a0001c0003t0025 a0001c0003t0051 a0001c0004t0019 a0001c0004t0020 a0001c0004t0052 a0001c0006t0007 a0001c0006t0045 a0001c0007t0021 a0001c0010t0015 a0001c0012t0014 a0001c0013t0005 a0001c0013t0014 a0001c0015t0003 a0001c0015t0058 a0001c0023t0020 a0001c0042t0005 a0002c0005t0024 a0002c0005t0050 a0002c0021t0019 a0003c0040t0004 a0006c0014t0064 a0007c0033t0006 a0008c0030t0010 a0009c0035t0007 a0009c0037t0004 a0012c0046t0046 a0020c0061t0001 a0021c0048t0002	a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0005g0106 others(33): Show a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0005g0106 a0001c0001t0008g0102 a0001c0001t0009g0099 a0001c0002t0006g0003 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0025g0016 a0001c0003t0051g0024 a0001c0004t0019g0078 a0001c0004t0020g0080 a0001c0004t0052g0030 a0001c0006t0007g0018 a0001c0006t0045g0044 a0001c0007t0021g0096 a0001c0010t0015g0009 a0001c0012t0014g0056 a0001c0013t0005g0118 a0001c0013t0014g0122 a0001c0015t0003g0098 a0001c0015t0058g0027 a0001c0023t0020g0088 a0001c0042t0005g0092 a0002c0005t0024g0039 a0002c0005t0050g0036 a0002c0021t0019g0065 a0003c0040t0004g0089 a0006c0014t0064g0040 a0007c0033t0006g0112 a0008c0030t0010g0002 a0009c0035t0007g0045 a0009c0037t0004g0043 a0012c0046t0046g0032 a0020c0061t0001g0066 a0021c0048t0002g0029	36	132	0.2727	-47	c.299 others(68): Show c.2995-40427_2995-40381delATGTATATATATATATAATGTATA TATATAATGTATATATATATATA		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGGF1_chr5_77025404_77070234	77042767	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19065.hp2 NA18992.hp2 NA19065.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0016 a0002c0003t0002 a0002c0003t0016	a0002c0003t0002g0043 a0002c0003t0016g0086 a0002c0003t0002g0043 a0002c0003t0016g0086	2	438	0.0046	-47	c.870 others(64): Show c.870+3055_870+3101delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGCTGACCCCCC		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
AGR2_chr7_16786811_16809999	16789677	GGGGGCTG others(40): Show GGGGGCTGAGCCCCCCACCTCCCTCCCGGCGGAGCAGCTAGCCGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	460	0.0022	-47	c.31 others(58): Show c.3184_*3230delTGCCCGGCTAGCTGCTCCGCCGGGAGGGAGGTGG GGGGCTCAGCCCC		AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding					2133		chr7	TogoVar
AGR2_chr7_16786811_16809999	16789685	AGCCCCCC others(40): Show AGCCCCCCACCTCCCTCCCGGCGGAGCAGCTAGCCGGGCAGGGGGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	460	0.0022	-47	c.31 others(58): Show c.3176_*3222delCAGCCCCCTGCCCGGCTAGCTGCTCCGCCGGGAG GGAGGTGGGGGGC		AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding					2125		chr7	TogoVar
AGR2_chr7_16786811_16809999	16789686	GCCCCCCA others(40): Show GCCCCCCACCTCCCTCCCGGCGGAGCAGCTAGCCGGGCAGGGGGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00733.hp2 others(32): Show HG00280.hp1 HG00639.hp2 HG00733.hp2 HG01109.hp1 HG01243.hp2 HG02004.hp2 HG02165.hp1 HG02280.hp2 HG02630.hp2 HG02683.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 NA18522.hp2 NA18955.hp2 NA18959.hp1 NA18975.hp1 NA19004.hp1 NA19030.hp1 NA19078.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018	a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0053 others(25): Show a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0127 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0169 a0001c0001t0003g0184 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0225 a0001c0001t0003g0235 a0001c0001t0005g0083 a0001c0001t0014g0140 a0001c0001t0018g0089	35	460	0.0761	-47	c.31 others(58): Show c.3175_*3221delTCAGCCCCCTGCCCGGCTAGCTGCTCCGCCGGGA GGGAGGTGGGGGG		AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding					2124		chr7	TogoVar
AGRN_chr1_1015120_1061116	1041776	CCGGCCAG others(40): Show CCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(153): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(19): Show a0001 a0002 a0006 a0008 a0011 a0012 a0013 a0014 a0017 a0018 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0004 a0001c0006 others(37): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0015 a0001c0019 a0001c0023 a0001c0028 a0001c0042 a0001c0044 a0001c0047 a0001c0055 a0001c0059 a0001c0063 a0001c0064 a0002c0005 a0002c0062 a0006c0010 a0006c0030 a0008c0009 a0011c0020 a0012c0021 a0013c0029 a0014c0058 a0017c0033 a0018c0034 a0020c0038 a0021c0040 a0023c0043 a0024c0050 a0025c0041 a0026c0039 a0027c0046 a0028c0045 a0029c0061 a0030c0049 a0031c0060 a0032c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0004t0001 a0001c0006t0001 a0001c0007t0005 a0001c0007t0008 a0001c0011t0006 a0001c0011t0008 a0001c0013t0008 a0001c0013t0010 a0001c0015t0001 a0001c0019t0001 a0001c0023t0001 a0001c0028t0006 a0001c0042t0001 a0001c0044t0001 a0001c0047t0001 a0001c0055t0012 a0001c0059t0001 a0001c0063t0003 a0001c0064t0005 a0002c0005t0004 a0002c0062t0011 a0006c0010t0007 a0006c0030t0001 a0008c0009t0004 a0011c0020t0009 a0012c0021t0001 a0013c0029t0013 a0014c0058t0008 a0017c0033t0001 a0018c0034t0005 a0020c0038t0001 a0021c0040t0001 a0023c0043t0001 a0024c0050t0018 a0025c0041t0001 a0026c0039t0001 a0027c0046t0004 a0028c0045t0004 a0029c0061t0004 a0030c0049t0001 a0031c0060t0007 a0032c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(148): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0014g0002 a0001c0004t0001g0170 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0184 a0001c0004t0001g0193 a0001c0006t0001g0006 a0001c0006t0001g0017 a0001c0006t0001g0165 a0001c0007t0005g0167 a0001c0007t0005g0169 a0001c0007t0005g0180 a0001c0007t0008g0183 a0001c0011t0006g0010 a0001c0011t0008g0050 a0001c0013t0008g0025 a0001c0013t0010g0011 a0001c0013t0010g0020 a0001c0015t0001g0004 a0001c0015t0001g0196 a0001c0019t0001g0074 a0001c0019t0001g0076 a0001c0023t0001g0135 a0001c0023t0001g0136 a0001c0028t0006g0166 a0001c0028t0006g0168 a0001c0042t0001g0016 a0001c0044t0001g0008 a0001c0047t0001g0061 a0001c0055t0012g0162 a0001c0059t0001g0171 a0001c0063t0003g0189 a0001c0064t0005g0192 a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 a0002c0005t0004g0187 a0002c0005t0004g0188 a0002c0062t0011g0174 a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 a0006c0030t0001g0058 a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0011c0020t0009g0159 a0011c0020t0009g0160 a0012c0021t0001g0139 a0013c0029t0013g0200 a0014c0058t0008g0195 a0017c0033t0001g0105 a0018c0034t0005g0091 a0020c0038t0001g0148 a0021c0040t0001g0153 a0023c0043t0001g0066 a0024c0050t0018g0022 a0025c0041t0001g0005 a0026c0039t0001g0092 a0027c0046t0004g0062 a0028c0045t0004g0063 a0029c0061t0004g0175 a0030c0049t0001g0110 a0031c0060t0007g0194 a0032c0031t0001g0120	156	210	0.7429	-47	c.117 others(63): Show c.1177+109_1178-99delCGGGGGAGGGCTGCGGCCAGTGCCAGGGT CGAGGTGGGCGGCTCCCC		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	6/35					INFO_REALIGN_3_PRIME	chr1	TogoVar
AIRE_chr21_44280876_44303648	44293804	GCGCGTTG others(40): Show GCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACT	G G	frameshift_variant frameshift_variant	HIGH	HG01256.hp1 HG01256.hp1	a0008 a0008	a0008c0040 a0008c0040	a0008c0040t0001 a0008c0040t0001	a0008c0040t0001g0160 a0008c0040t0001g0160	1	426	0.0024	-47	c.129 others(56): Show c.1296_1342delGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCT GCGGTGTACTC	p.Arg others(5): Show p.Arg433fs	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	11/14	1427/2690	1296/1638	432/545		INFO_REALIGN_3_PRIME	chr21	TogoVar
AKAP10_chr17_19899302_19982828	19951143	GCAGCCCC others(40): Show GCAGCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp1 HG02970.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0057 a0001c0001t0009g0058	2	278	0.0072	-47	c.878 others(64): Show c.878-3685_878-3639delACCCCCCACCTCCCTCCCAGATGGGGCG GCTGGCCGGGCGGGGGCTG		AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/14						chr17	TogoVar
AKAP10_chr17_19899302_19982828	19951169	ATCTGGGA others(40): Show ATCTGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0056 a0001c0006t0028g0056	1	278	0.0036	-47	c.878 others(64): Show c.878-3711_878-3665delCGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCACCTCCCTCCCAGA		AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/14						chr17	TogoVar
AKAP10_chr17_19899302_19982828	19951172	TGGGAGGG others(40): Show TGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01070.hp1 others(40): Show HG00140.hp2 HG00438.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG03098.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp2 NA18968.hp1 NA18970.hp1 NA18977.hp2 NA18990.hp1 NA18998.hp1 NA19043.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19080.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0008t0002	a0001c0001t0001g0052 a0001c0001t0002g0010 a0001c0001t0002g0011 others(40): Show a0001c0001t0001g0052 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0011g0047 a0001c0001t0012g0003 a0001c0001t0012g0274 a0001c0001t0018g0029 a0001c0001t0019g0031 a0001c0008t0002g0048	43	278	0.1547	-47	c.878 others(64): Show c.878-3714_878-3668delGGACGGGGCGGCTGGCCGGGCGGGGGCT GACCCCCCACCTCCCTCCC		AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/14						chr17	TogoVar
AKAP17A_chrX_1586604_1607520	1596431	CTCCTCCT others(40): Show CTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(66): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01891.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0010 a0014 a0017	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0025 a0002c0003 a0003c0006 a0003c0022 a0004c0007 a0008c0009 a0010c0023 a0014c0021 a0017c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0004t0001 a0001c0004t0018 a0001c0005t0001 a0001c0005t0013 a0001c0025t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0021 a0003c0006t0003 a0003c0022t0003 a0004c0007t0001 a0008c0009t0001 a0010c0023t0001 a0014c0021t0001 a0017c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0008g0048 a0001c0001t0009g0010 a0001c0001t0015g0098 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0018g0015 a0001c0005t0001g0056 a0001c0005t0013g0058 a0001c0025t0001g0095 a0002c0003t0001g0121 a0002c0003t0002g0047 a0002c0003t0002g0054 a0002c0003t0002g0090 a0002c0003t0002g0102 a0002c0003t0004g0046 a0002c0003t0004g0070 a0002c0003t0004g0126 a0002c0003t0021g0017 a0003c0006t0003g0088 a0003c0022t0003g0110 a0004c0007t0001g0002 a0004c0007t0001g0082 a0008c0009t0001g0059 a0010c0023t0001g0087 a0014c0021t0001g0003 a0017c0008t0001g0050	69	151	0.4570	-47	c.911 others(62): Show c.911+942_911+988delTGGATTCCTCCTCCTCCTCCTCCATCCCTC CCACCCTCCTAGTGAGG		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
ALG10B_chr12_38311774_38334721	38330369	GCCCCCCA others(40): Show GCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGCTGGGGGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA18976.hp1 HG03927.hp2 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	-47	c.91 others(58): Show c.9157_*9203delCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGCTGGGGGCTGA		ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding					649		chr12	TogoVar
ALOX15B_chr17_8034059_8054134	8044762	GTGTCCCC others(40): Show GTGTCCCCCACCCCCTGCAAAGCACGCATTTGAGTGACCCCGTTCCCC	G G	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02738.hp1 HG03834.hp1 HG02738.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0229 a0001c0001t0001g0133 a0001c0001t0001g0229	2	470	0.0043	-47	c.677 others(59): Show c.677-48_677-2delAAGCACGCATTTGAGTGACCCCGTTCCCCTGTC CCCCACCCCCTGCA		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107918	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03209.hp1 HG01261.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0009 a0001c0002t0003g0366 a0001c0002t0002g0009 a0001c0002t0003g0366	2	422	0.0047	-47	c.168 others(64): Show c.1684+503_1684+549delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
AMPH_chr7_38378704_38636373	38610335	AAAGAAAA others(40): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0004 a0001c0001t0003 a0001c0005t0004	a0001c0001t0003g0158 a0001c0005t0004g0162 a0001c0001t0003g0158 a0001c0005t0004g0162	2	288	0.0069	-47	c.69+ others(64): Show c.69+20901_69+20947delCTTTCCTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
ANAPC1_chr2_111762640_111889193	111858482	CGGGCGCG others(40): Show CGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0255 a0001c0007t0007g0255	1	370	0.0027	-47	c.126 others(63): Show c.1263-128_1263-82delCTCGGCCTCCCAAAGTGTTGGGATTACAG GTGTGAGCCACCGCGCCC		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	10/47						chr2	TogoVar
ANKRA2_chr5_73547190_73570639	73561588	AAACCCCA others(40): Show AAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCTTGGTGGC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	392	0.0026	-47	c.290 others(62): Show c.290-347_290-301delGCCACCAAGCCCGGCTAATTTTTTGTATTT TTAGTAGAGATGGGGTT		ANKRA2	ENSG00000164331.10	transcript	ENST00000296785.8	protein_coding	2/8						chr5	TogoVar

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Search Results (Total: 916 hits)