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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AQR_chr15_34846782_34974742	34946431	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 NA20129.hp2 HG02109.hp2 HG02451.hp2 NA20129.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0054 a0001c0011t0055 a0001c0011t0057 a0001c0011t0054 a0001c0011t0055 a0001c0011t0057	a0001c0011t0054g0161 a0001c0011t0055g0162 a0001c0011t0057g0160 a0001c0011t0054g0161 a0001c0011t0055g0162 a0001c0011t0057g0160	3	312	0.0096	-49	c.330 others(66): Show c.330+1784_330+1832delACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	5/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34947135	CATGGGAG others(42): Show CATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02922.hp1 HG03209.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0021 a0001c0008t0044 a0001c0008t0049 others(4): Show a0001c0008t0021 a0001c0008t0044 a0001c0008t0049 a0001c0008t0050 a0001c0011t0054 a0001c0011t0055 a0001c0011t0057	a0001c0008t0021g0176 a0001c0008t0021g0177 a0001c0008t0044g0175 others(5): Show a0001c0008t0021g0176 a0001c0008t0021g0177 a0001c0008t0044g0175 a0001c0008t0049g0173 a0001c0008t0050g0174 a0001c0011t0054g0161 a0001c0011t0055g0162 a0001c0011t0057g0160	8	312	0.0256	-49	c.330 others(66): Show c.330+1080_330+1128delAAGGCAGAAGAATTTTTCTTAGTACAGA ACAAAATGAAAAGTCTCCCAT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	5/34			chr15	TogoVar
ARC_chr8_142606049_142619479	142607151	GTGGAGGG others(42): Show GTGGAGGGGAGGGGAGGAGAGGGGAGGGGAAGGGAGGGAAGGGTGGGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(124): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01934.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0004c0009	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 others(10): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0002c0008t0003 a0004c0009t0003	a0001c0001t0002g0002 a0001c0002t0003g0003 a0001c0002t0004g0004 others(12): Show a0001c0001t0002g0002 a0001c0002t0003g0003 a0001c0002t0004g0004 a0001c0002t0004g0039 a0001c0002t0005g0005 a0001c0002t0005g0007 a0001c0002t0010g0016 a0001c0002t0013g0024 a0001c0002t0016g0026 a0001c0002t0017g0028 a0001c0002t0018g0029 a0001c0002t0019g0030 a0001c0002t0020g0031 a0002c0008t0003g0020 a0004c0009t0003g0027	127	420	0.3024	-49	c.54 others(60): Show c.5400_*5448delTTCCCCACCCTTCCCTCCCTTCCCCTCCCCTCTC CTCCCCTCCCCTCCA	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		3897		chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48936080	ACCCCCAC others(42): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0315 a0001c0002t0001g0316	2	352	0.0057	-49	c.122 others(66): Show c.122-5081_122-5033delGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138332286	GCTTTCTT others(42): Show GCTTTCTTTCTTCCACTTGGAGACTTACTGAATGCTACTCTCACCATTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01106.hp1 others(48): Show HG00140.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp2 NA18957.hp1 NA18968.hp2 NA19002.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19083.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0012 a0014 a0016 a0017	a0001c0005 a0001c0015 a0001c0033 others(16): Show a0001c0005 a0001c0015 a0001c0033 a0001c0034 a0002c0003 a0002c0006 a0002c0011 a0002c0027 a0002c0030 a0002c0041 a0003c0017 a0003c0018 a0005c0025 a0005c0026 a0006c0020 a0012c0036 a0014c0023 a0016c0016 a0017c0019	a0001c0005t0002 a0001c0005t0007 a0001c0005t0020 others(32): Show a0001c0005t0002 a0001c0005t0007 a0001c0005t0020 a0001c0005t0023 a0001c0005t0024 a0001c0005t0051 a0001c0015t0021 a0001c0015t0022 a0001c0033t0005 a0001c0034t0049 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0023 a0002c0003t0048 a0002c0003t0053 a0002c0006t0005 a0002c0006t0021 a0002c0006t0055 a0002c0006t0056 a0002c0011t0005 a0002c0011t0046 a0002c0011t0052 a0002c0027t0038 a0002c0030t0009 a0002c0041t0002 a0003c0017t0054 a0003c0018t0007 a0005c0025t0012 a0005c0026t0012 a0006c0020t0007 a0012c0036t0012 a0014c0023t0009 a0016c0016t0022 a0017c0019t0005	a0001c0005t0002g0117 a0001c0005t0007g0092 a0001c0005t0020g0005 others(48): Show a0001c0005t0002g0117 a0001c0005t0007g0092 a0001c0005t0020g0005 a0001c0005t0020g0189 a0001c0005t0023g0186 a0001c0005t0024g0102 a0001c0005t0024g0151 a0001c0005t0051g0148 a0001c0015t0021g0085 a0001c0015t0022g0116 a0001c0033t0005g0023 a0001c0034t0049g0071 a0002c0003t0002g0030 a0002c0003t0002g0034 a0002c0003t0002g0042 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0052 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0060 a0002c0003t0007g0078 a0002c0003t0007g0079 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0023g0150 a0002c0003t0048g0158 a0002c0003t0053g0041 a0002c0006t0005g0068 a0002c0006t0005g0069 a0002c0006t0005g0110 a0002c0006t0005g0160 a0002c0006t0021g0008 a0002c0006t0055g0065 a0002c0006t0056g0006 a0002c0011t0005g0013 a0002c0011t0046g0066 a0002c0011t0052g0112 a0002c0027t0038g0010 a0002c0030t0009g0024 a0002c0041t0002g0075 a0003c0017t0054g0083 a0003c0018t0007g0100 a0005c0025t0012g0074 a0005c0026t0012g0017 a0006c0020t0007g0084 a0012c0036t0012g0178 a0014c0023t0009g0020 a0016c0016t0022g0099 a0017c0019t0005g0082	51	190	0.2684	-49	c.512 others(68): Show c.5124-1633_5124-1585delTTTCTTTCTTCCACTTGGAGACTTAC TGAATGCTACTCTCACCATTTTC	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARHGAP21_chr10_24578614_24728887	24656661	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19240.hp2 NA19058.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0345 a0001c0001t0004g0296 a0001c0001t0002g0345 a0001c0001t0004g0296	2	352	0.0057	-49	c.268 others(68): Show c.268+10275_268+10323delGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144592243	TTGAGCCC others(42): Show TTGAGCCCAGACCCTCGGGAAACCTGAGGGCACCTCCTGGGGGACAGCAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp2 HG02809.hp2 others(13): Show HG02027.hp1 HG02055.hp2 HG02809.hp2 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18979.hp1 NA18999.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0002t0001 a0001c0017t0001	a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0004g0150 others(13): Show a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0021g0062 a0001c0002t0001g0007 a0001c0002t0001g0025 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0161 a0001c0017t0001g0064	16	246	0.0650	-49	c.81- others(66): Show c.81-11015_81-10967delGTGCTGTCCCCCAGGAGGTGCCCTCAGG TTTCCCGAGGGTCTGGGCTCA	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889144	AGGGTTGT others(42): Show AGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18943.hp2 NA18966.hp2 others(2): Show NA18941.hp2 NA18943.hp2 NA18966.hp2 NA18974.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0002g0271 a0001c0002t0001g0270 a0001c0002t0002g0002 others(2): Show a0001c0001t0002g0271 a0001c0002t0001g0270 a0001c0002t0002g0002 a0001c0002t0002g0269 a0001c0010t0001g0272	5	363	0.0138	-49	c.118 others(68): Show c.1182+3439_1182+3487delGGTTGTGAGGAGACGCTGAGTTGGGG GGTTGTGAGGAGAGCGTGGGGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1897478	GATCGGAT others(42): Show GATCGGATCGCAGTTCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20300.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0009 a0001c0047t0009	a0001c0047t0009g0331 a0001c0047t0009g0334 a0001c0047t0009g0331 a0001c0047t0009g0334	2	363	0.0055	-49	c.155 others(66): Show c.1558-888_1558-840delCCTCTGGACAGCTGTGGGCTCTGTCCTA AGGCATCGGATCGCAGTTCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARMT1_chr6_151447466_151475101	151450529	TGGGGGGT others(42): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-49	c.-20 others(60): Show c.-2016_-1968delGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTG	ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding		1936		chr6	TogoVar
ARNT_chr1_150804713_150881599	150807931	GTAGAAAA others(42): Show GTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	326	0.0031	-49	c.40 others(60): Show c.4041_*4089delGGAATCATTTCCCCATCCTTCAAGAGTGGCCTTT CTGCAGTGTTTTCTA	ARNT	ENSG00000143437.21	transcript	ENST00000358595.10	protein_coding		1781		chr1	TogoVar
ARRDC2_chr19_18003170_18019102	18005615	GGGGGGCT others(42): Show GGGGGGCTGACCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0015 a0001c0001t0001g0028	2	414	0.0048	-49	c.-26 others(60): Show c.-2695_-2647delGGGGGCTGACCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCA	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		2554		chr19	TogoVar
ASB16_chr17_44165704_44184084	44180623	CGGCCAGC others(42): Show CGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	362	0.0028	-49	c.22 others(60): Show c.2234_*2282delGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCT	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		1540		chr17	TogoVar
ATM_chr11_108218067_108374102	108370517	AATCATCA others(42): Show AATCATCAGTAGAATATTGGGACATTCTAGTCCTGTGCCTCATCTCAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG03139.hp1 HG01109.hp2 HG02572.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0016 a0001c0008t0016 a0001c0001t0016 a0001c0008t0016	a0001c0001t0016g0009 a0001c0008t0016g0115 a0001c0008t0016g0116 a0001c0001t0016g0009 a0001c0008t0016g0115 a0001c0008t0016g0116	3	304	0.0099	-49	c.50 others(60): Show c.5010_*5058delATCATCAGTAGAATATTGGGACATTCTAGTCCTG TGCCTCATCTCAAAG	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding		1416		chr11	TogoVar
ATP10B_chr5_160558120_160857211	160653574	CATATATA others(42): Show CATATATACATATATACATATATACATATATACATATATACATATATATT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0045 a0001c0008t0045	a0001c0008t0045g0026 a0001c0008t0045g0026	1	236	0.0042	-49	c.676 others(66): Show c.676-4367_676-4319delAATATATATGTATATATGTATATATGTA TATATGTATATATGTATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP8A2_chr13_25366974_26030851	25512640	ACCCCCCA others(42): Show ACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02559.hp1 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0020 a0001c0006t0006 a0001c0006t0020	a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0006g0098 a0001c0006t0020g0085	2	122	0.0164	-49	c.222 others(68): Show c.222-17353_222-17305delCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGCTGACCCCCC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25512953	TGGGGGGC others(42): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC	T T	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	-49	c.222 others(68): Show c.222-17028_222-16980delACCTCCCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGCTGACCCCCCC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79146175	CGGGGGAG others(42): Show CGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCG	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0142 a0001c0003t0003g0142	1	298	0.0034	-49	c.726 others(66): Show c.726+2320_726+2368delGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCGGGCTGCATGTCGGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXDND1_chr1_179360971_179559735	179418612	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCGCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	356	0.0028	-49	c.123 others(68): Show c.1230+7354_1230+7402delTGACCCCCGCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGTGGGGGGC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167563372	CCCTCCCT others(42): Show CCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	118	0.0085	-49	c.-41 others(70): Show c.-410+73110_-410+73158delGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCTCCACCTCCCTCCCGGAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82984213	GGACGTGG others(42): Show GGACGTGGGGGAGGGGAGAGGCCACGTGAGCACACAGGAGGCCATATGAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0044 a0001c0006t0033g0044	1	266	0.0038	-49	c.460 others(68): Show c.460-18516_460-18468delATCATATGGCCTCCTGTGTGCTCACG TGGCCTCTCCCCTCCCCCACGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150167	TCCGGCCA others(42): Show TCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01069.hp2 others(29): Show HG00438.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01255.hp2 HG02015.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18954.hp1 NA19089.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0005 a0001c0011 others(4): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0002c0006 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0005t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0008 a0001c0011t0042 a0002c0002t0004 a0002c0002t0011 a0002c0006t0021 a0005c0008t0014 a0006c0009t0002	a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0330 others(27): Show a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0330 a0001c0001t0002g0009 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0210 a0001c0001t0002g0304 a0001c0005t0008g0010 a0001c0005t0008g0081 a0001c0011t0042g0132 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0101 a0002c0002t0004g0179 a0002c0002t0004g0217 a0002c0002t0004g0220 a0002c0002t0004g0248 a0002c0002t0004g0308 a0002c0002t0004g0309 a0002c0002t0004g0314 a0002c0002t0004g0337 a0002c0002t0011g0154 a0002c0002t0011g0155 a0002c0002t0011g0275 a0002c0006t0021g0035 a0002c0006t0021g0100 a0005c0008t0014g0222 a0005c0008t0014g0223 a0006c0009t0002g0235	32	380	0.0842	-49	c.354 others(66): Show c.354-2565_354-2517delCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTC	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	87991207	AGGAATTA others(42): Show AGGAATTATTCACATAATTGTATGGTACAGTTTACATACCTACAACTTCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG03041.hp2 others(1): Show HG02630.hp2 HG02965.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0001 a0001c0014t0001 a0001c0007t0001 a0001c0014t0001	a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0014t0001g0092 others(1): Show a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0014t0001g0092 a0001c0014t0001g0095	4	352	0.0114	-49	c.362 others(66): Show c.362+6972_362+7020delGTACAGTTTACATACCTACAACTTCGGG AATTATTCACATAATTGTATG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019572	GGGGCGTC others(42): Show GGGGCGTCCGGGATCTCGGCGTGCGGGATCTCAGCGTGCGGGGGGCGTCC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0338 a0002c0003t0003g0338	1	352	0.0028	-49	c.895 others(64): Show c.895+912_895+960delCCGGGATCTCGGCGTGCGGGATCTCAGCGT GCGGGGGGCGTCCGGGCGT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019579	CCGGGATC others(42): Show CCGGGATCTCGGCGTGCGGGATCTCAGCGTGCGGGGGGCGTCCGGGCGTG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 NA18998.hp2 HG00597.hp2 HG02132.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0030 a0001c0002t0011g0052 a0001c0002t0011g0058 a0001c0002t0011g0030 a0001c0002t0011g0052 a0001c0002t0011g0058	3	352	0.0085	-49	c.895 others(64): Show c.895+922_895+970delGGCGTGCGGGATCTCAGCGTGCGGGGGGCG TCCGGGCGTGCGGGATCTC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019589	GGCGTGCG others(42): Show GGCGTGCGGGATCTCAGCGTGCGGGGGGCGTCCGGGCGTGCGGGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp1 HG02615.hp2 others(6): Show HG00738.hp2 HG02055.hp1 HG02615.hp2 HG02965.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0007t0001g0093 others(6): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0124 a0001c0007t0001g0339	9	352	0.0256	-49	c.895 others(64): Show c.895+932_895+980delATCTCAGCGTGCGGGGGGCGTCCGGGCGTG CGGGATCTCAGCGTGCGGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BBS4_chr15_72681207_72743473	72725873	ATCCCCCT others(42): Show ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01071.hp2 others(1): Show HG00738.hp1 HG00741.hp2 HG01071.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0287 a0002c0002t0001g0290 others(1): Show a0002c0002t0001g0260 a0002c0002t0001g0287 a0002c0002t0001g0290 a0002c0002t0001g0302	4	398	0.0101	-49	c.587 others(66): Show c.587+1232_587+1280delATCCCCCTTTCCCCATCCCCCTTTCCCC ATCCCCCTTCCCCCTTTCCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169505959	GGTCAGCC others(42): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(129): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0014g0001 a0001c0001t0014g0151 a0001c0001t0014g0164 a0001c0001t0014g0167 a0001c0001t0014g0202 a0001c0001t0015g0001 a0001c0001t0015g0005 a0001c0001t0015g0017 a0001c0001t0016g0001 a0001c0001t0016g0162 a0001c0001t0016g0186 a0001c0001t0016g0188 a0001c0001t0018g0001 a0001c0001t0018g0195 a0001c0001t0039g0206 a0001c0001t0040g0187 a0001c0001t0042g0166 a0001c0001t0048g0001	132	398	0.3317	-49	c.13 others(60): Show c.1378_*1426delGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGA	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12	1378		chr2	TogoVar
BCAS4_chr20_50790061_50882177	50863244	GGTGCTTT others(42): Show GGTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	270	0.0037	-49	c.400 others(68): Show c.400-13239_400-13191delGCTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCACTCTGT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCL11A_chr2_60452194_60558654	60507330	AAGGGAAG others(42): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02615.hp1 others(3): Show HG01243.hp2 HG01884.hp2 HG02615.hp1 HG03195.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0046 a0001c0001t0054	a0001c0001t0001g0028 a0001c0001t0003g0187 a0001c0001t0004g0074 others(3): Show a0001c0001t0001g0028 a0001c0001t0003g0187 a0001c0001t0004g0074 a0001c0001t0011g0188 a0001c0001t0046g0186 a0001c0001t0054g0194	6	262	0.0229	-49	c.386 others(68): Show c.386-38546_386-38498delCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(42): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01071.hp2 others(23): Show HG00544.hp1 HG00673.hp1 HG01071.hp2 HG01123.hp1 HG01258.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02683.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03540.hp1 NA18945.hp2 NA18957.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0027 a0002c0002t0001 a0006c0009t0005	a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0002g0183 others(20): Show a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0002g0183 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0004g0068 a0001c0001t0004g0114 a0001c0001t0004g0150 a0001c0001t0005g0084 a0001c0001t0005g0098 a0001c0001t0005g0154 a0001c0001t0006g0272 a0001c0001t0007g0010 a0001c0001t0008g0227 a0001c0001t0009g0017 a0001c0001t0009g0280 a0001c0001t0027g0012 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0047 a0002c0002t0001g0156 a0006c0009t0005g0031	26	316	0.0823	-49	c.-10 others(60): Show c.-1081_-1033delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BDH1_chr3_197504783_197560968	197510635	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0188 a0001c0001t0099g0188	1	319	0.0031	-49	c.12 others(60): Show c.1211_*1259delCTTACACACATGTACACACACACACACACACACA CACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDP1_chr5_71450651_71572820	71525557	CTCCCGGA others(42): Show CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0006 a0007 others(7): Show a0001 a0006 a0007 a0008 a0009 a0023 a0032 a0033 a0034 a0040	a0001c0001 a0001c0021 a0001c0022 others(13): Show a0001c0001 a0001c0021 a0001c0022 a0001c0030 a0006c0007 a0006c0024 a0006c0028 a0007c0006 a0008c0009 a0008c0048 a0009c0008 a0023c0046 a0032c0025 a0033c0027 a0034c0023 a0040c0045	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(18): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0021t0002 a0001c0022t0002 a0001c0030t0002 a0006c0007t0002 a0006c0024t0002 a0006c0028t0021 a0007c0006t0002 a0008c0009t0002 a0008c0048t0002 a0009c0008t0002 a0009c0008t0007 a0023c0046t0002 a0032c0025t0002 a0033c0027t0002 a0034c0023t0002 a0040c0045t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(114): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0061 a0001c0001t0019g0016 a0001c0001t0020g0052 a0001c0001t0022g0013 a0001c0021t0002g0054 a0001c0022t0002g0081 a0001c0030t0002g0031 a0006c0007t0002g0006 a0006c0007t0002g0103 a0006c0007t0002g0105 a0006c0007t0002g0106 a0006c0007t0002g0107 a0006c0007t0002g0108 a0006c0007t0002g0109 a0006c0024t0002g0104 a0006c0028t0021g0008 a0007c0006t0002g0017 a0007c0006t0002g0042 a0007c0006t0002g0043 a0007c0006t0002g0044 a0007c0006t0002g0045 a0007c0006t0002g0046 a0007c0006t0002g0047 a0008c0009t0002g0028 a0008c0009t0002g0053 a0008c0009t0002g0110 a0008c0009t0002g0111 a0008c0009t0002g0112 a0008c0009t0002g0113 a0008c0048t0002g0009 a0009c0008t0002g0007 a0009c0008t0002g0090 a0009c0008t0007g0095 a0009c0008t0007g0096 a0009c0008t0007g0097 a0009c0008t0007g0098 a0023c0046t0002g0027 a0032c0025t0002g0066 a0033c0027t0002g0011 a0034c0023t0002g0069 a0040c0045t0002g0091	119	325	0.3662	-49	c.577 others(68): Show c.5772+1242_5772+1290delTGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCAACCTCCTTCCCGGA	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	25/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71551893	AGGCGGGG others(42): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0022 a0022	a0022c0019 a0022c0019	a0022c0019t0024 a0022c0019t0024	a0022c0019t0024g0118 a0022c0019t0024g0118	1	325	0.0031	-49	c.699 others(68): Show c.6996-1174_6996-1126delGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	34/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEND7_chr10_13436088_13534014	13529113	AGCCCGGC others(42): Show AGCCCGGCCGCCGCCATCCCCGGGGGCCGCCGCCGGCCTGGCCGCGCGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	300	0.0033	-49	c.-62 others(58): Show c.-629_-581delGCCGCGCGGCCAGGCCGGCGGCGGCCCCCGGGGATG GCGGCGGCCGGGC	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding		100		chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100277477	CGGCCAGC others(42): Show CGGCCAGCCGTCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	378	0.0027	-49	c.398 others(66): Show c.398-2033_398-1985delAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGACGGCTGGCC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100277485	CGTCCCGT others(42): Show CGTCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(10): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 HG03516.hp2 NA19004.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0002c0002t0007 a0002c0002t0018	a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0004g0200 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0004g0200 a0001c0001t0022g0189 a0002c0002t0007g0042 a0002c0002t0007g0216 a0002c0002t0007g0220 a0002c0002t0007g0221 a0002c0002t0007g0231 a0002c0002t0018g0226	13	378	0.0344	-49	c.398 others(66): Show c.398-2041_398-1993delAGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGAC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100277800	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01361.hp2 others(9): Show HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01884.hp2 HG02451.hp2 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG03130.hp1 HG03540.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0139 a0001c0001t0001g0186 a0001c0001t0024g0192	12	378	0.0318	-49	c.397 others(66): Show c.397+2275_398-2308delGGGGGGCTGACTCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100277853	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	378	0.0027	-49	c.397 others(66): Show c.397+2222_397+2270delAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86928876	AACTCCTG others(42): Show AACTCCTGACCTCAAGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0199 a0002c0001t0002g0199	1	278	0.0036	-49	c.51 others(60): Show c.5158_*5206delACTCCTGACCTCAAGTGATCTGCCTACCTCAGCC TCCCAAAGTGCTGGG	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		908		chr10	TogoVar
BMPR2_chr2_202371327_202572749	202534843	AGGCGGGG others(42): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp1 HG01255.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0059 a0001c0002t0012g0064 a0001c0002t0002g0059 a0001c0002t0012g0064	2	224	0.0089	-49	c.127 others(68): Show c.1276+2181_1276+2229delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202535109	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0001t0019g0010 a0001c0001t0019g0011	2	224	0.0089	-49	c.127 others(68): Show c.1276+2391_1276+2439delGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPIFA2_chr20_33163159_33186412	33180959	AATCAATC others(42): Show AATCAATCTTTTCACATCTACCATTGTTCTGAAGGAGGGTGAGGGGAATG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	378	0.0027	-49	c.38 others(64): Show c.38-263_*38-215delTCAATCTTTTCACATCTACCATTGTTCTGA AGGAGGGTGAGGGGAATGA	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33185146	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCTGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	378	0.0027	-49	c.39 others(60): Show c.3961_*4009delCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCTGGGGGCTGA	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3735		chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33185275	TGGCTGAC others(42): Show TGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCTGGCGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	378	0.0027	-49	c.40 others(60): Show c.4090_*4138delGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCTGGCGGGG	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3864		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33115816	TGCCCCGT others(42): Show TGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02717.hp1 others(5): Show HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2 NA20300.hp1	a0005 a0008 a0010 others(2): Show a0005 a0008 a0010 a0019 a0023	a0005c0006 a0008c0008 a0010c0010 others(2): Show a0005c0006 a0008c0008 a0010c0010 a0019c0021 a0023c0023	a0005c0006t0001 a0008c0008t0001 a0010c0010t0001 others(2): Show a0005c0006t0001 a0008c0008t0001 a0010c0010t0001 a0019c0021t0001 a0023c0023t0001	a0005c0006t0001g0263 a0008c0008t0001g0012 a0008c0008t0001g0036 others(4): Show a0005c0006t0001g0263 a0008c0008t0001g0012 a0008c0008t0001g0036 a0008c0008t0001g0038 a0010c0010t0001g0133 a0019c0021t0001g0061 a0023c0023t0001g0129	8	344	0.0233	-49	c.43 others(60): Show c.4380_*4428delGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCTGCCCGGCCAGCC	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding		4066		chr20	TogoVar
BRSK2_chr11_1384934_1467689	1418096	CACTGTGT others(42): Show CACTGTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0330 a0002c0002t0015g0330	1	360	0.0028	-49	c.92- others(66): Show c.92-17943_92-17895delACTGTGTCCTGCTTCTGTTGGCTGTTTC TTCTCTTGAGAGTGGGTCACA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1429926	CGGTCTGG others(42): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG01515.hp1 others(14): Show HG00544.hp2 HG01099.hp2 HG01515.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp2 HG02280.hp2 NA18612.hp1 NA18956.hp2 NA18967.hp1 NA18973.hp1 NA18980.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0064 a0001c0001t0076 a0002c0002t0002 others(8): Show a0001c0001t0064 a0001c0001t0076 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0020 a0002c0002t0041 a0002c0002t0050 a0002c0002t0053 a0002c0002t0056 a0002c0002t0058	a0001c0001t0064g0261 a0001c0001t0076g0182 a0002c0002t0002g0098 others(14): Show a0001c0001t0064g0261 a0001c0001t0076g0182 a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0005g0262 a0002c0002t0005g0269 a0002c0002t0008g0078 a0002c0002t0008g0181 a0002c0002t0020g0156 a0002c0002t0041g0144 a0002c0002t0050g0165 a0002c0002t0053g0139 a0002c0002t0056g0337 a0002c0002t0058g0325	17	360	0.0472	-49	c.92- others(64): Show c.92-6064_92-6016delGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431060	CGGTCTGG others(42): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01255.hp1 others(4): Show HG00140.hp1 HG00323.hp1 HG01255.hp1 HG03017.hp2 HG03704.hp1 HG03831.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0002c0002t0007 others(4): Show a0001c0001t0006 a0001c0001t0011 a0002c0002t0007 a0002c0002t0008 a0002c0002t0020 a0002c0002t0040 a0002c0002t0071	a0001c0001t0006g0214 a0001c0001t0011g0310 a0002c0002t0007g0306 others(4): Show a0001c0001t0006g0214 a0001c0001t0011g0310 a0002c0002t0007g0306 a0002c0002t0008g0167 a0002c0002t0020g0125 a0002c0002t0040g0298 a0002c0002t0071g0249	7	360	0.0194	-49	c.92- others(64): Show c.92-4953_92-4905delTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431720	CGGTCTGG others(42): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02258.hp1 HG02155.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0015 a0002c0002t0002 a0002c0002t0015	a0002c0002t0002g0158 a0002c0002t0015g0330 a0002c0002t0002g0158 a0002c0002t0015g0330	2	360	0.0056	-49	c.92- others(64): Show c.92-4270_92-4222delGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 1443 hits)