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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAX_chr19_48949875_48966798	48954325	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00733.hp2 others(58): Show HG00558.hp2 HG00609.hp2 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01975.hp2 HG02056.hp2 HG02074.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18993.hp2 NA19010.hp1 NA19011.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(38): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0220	61	418	0.1459	7	c.-60 others(16): Show c.-604_-603insAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		549		chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34751700	T T	TAAAAAAA TAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00544.hp1 others(8): Show HG00280.hp1 HG00423.hp2 HG00544.hp1 HG01167.hp1 HG01169.hp1 NA18963.hp2 NA18988.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19076.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0012 a0001c0003t0005 a0001c0003t0012	a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0009 others(8): Show a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0012g0380	11	380	0.0290	7	c.18 others(18): Show c.1807_*1808insTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34825447	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00642.hp2 others(42): Show HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG01515.hp1 HG01975.hp1 HG02015.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp1 NA18946.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19074.hp2 NA19076.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0005 a0001c0003t0012	a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 others(42): Show a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0116 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0131 a0001c0003t0005g0005 a0001c0003t0005g0007 a0001c0003t0005g0008 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0020 a0001c0003t0005g0048 a0001c0003t0012g0380	45	380	0.1184	7	c.536 others(22): Show c.536+559_536+565dupTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	4/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159377812	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02109.hp2 others(11): Show HG01168.hp1 HG01169.hp2 HG02109.hp2 HG02257.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG03041.hp2 HG03098.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0023t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0023t0002 a0002c0002t0001 a0002c0007t0002	a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0101 others(11): Show a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0023t0002g0147 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0007t0002g0135	14	216	0.0648	7	c.400 others(26): Show c.4006-3066_4006-3060dupTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159415444	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp2 HG02280.hp1 HG02300.hp1 HG02615.hp2 HG02698.hp2 HG03209.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18949.hp2 NA18950.hp1 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA19000.hp2 NA19002.hp1 NA19055.hp1 NA19057.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0014 a0020	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006 a0006c0016 a0014c0024 a0020c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0004c0004t0001 a0004c0004t0002 a0006c0006t0001 a0006c0006t0002 a0006c0016t0002 a0014c0024t0001 a0020c0014t0002	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(45): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0186 a0004c0004t0001g0005 a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0002g0203 a0006c0006t0001g0081 a0006c0006t0002g0145 a0006c0016t0002g0146 a0014c0024t0001g0088 a0020c0014t0002g0181	48	216	0.2222	7	c.246 others(26): Show c.2467-2906_2467-2900dupTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	13/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159519210	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01123.hp2 others(3): Show HG00140.hp1 HG00639.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01261.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0008t0002 a0002c0002t0002 a0001c0001t0002 a0001c0008t0002 a0002c0002t0002	a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0183 others(3): Show a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0008t0002g0159 a0002c0002t0002g0163	6	216	0.0278	7	c.-3+ others(24): Show c.-3+36606_-3+36612dupAAAAAAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159533574	T T	TGATTTAA TGATTTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp2 HG02622.hp1 others(2): Show HG00639.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0004c0009t0001	a0001c0001t0001g0033 a0001c0001t0001g0102 a0001c0001t0005g0130 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0102 a0001c0001t0005g0130 a0001c0001t0008g0131 a0004c0009t0001g0010	5	216	0.0232	7	c.-3+ others(24): Show c.-3+22242_-3+22248dupTTAAATC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47217194	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(252): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(156): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0151 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0214 a0001c0001t0003g0004 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0071 a0001c0001t0003g0091 a0001c0001t0003g0101 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0198 a0001c0001t0003g0218 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0025 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0105 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0127 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0004g0187 a0001c0001t0004g0199 a0001c0001t0004g0203 a0001c0001t0005g0188 a0001c0001t0006g0018 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0006g0229 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0007g0019 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0224 a0001c0001t0007g0225 a0001c0001t0007g0230 a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0008g0033 a0001c0001t0008g0159 a0001c0001t0008g0171 a0001c0001t0009g0020 a0001c0001t0009g0060 a0001c0001t0009g0226 a0001c0001t0009g0234 a0001c0001t0011g0023 a0001c0001t0012g0094 a0001c0001t0012g0095 a0001c0001t0012g0097 a0001c0001t0013g0143 a0001c0001t0013g0209 a0001c0001t0015g0157 a0001c0001t0015g0215 a0001c0001t0017g0040 a0001c0001t0018g0126 a0001c0001t0018g0144 a0001c0001t0020g0065 a0001c0001t0023g0096 a0001c0001t0025g0169 a0001c0001t0026g0083 a0001c0001t0028g0162 a0001c0001t0029g0170 a0001c0001t0030g0119 a0001c0001t0033g0223 a0002c0002t0002g0102	255	412	0.6189	7	c.46 others(18): Show c.4607_*4608insAAAAAAA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		3629		chr19	TogoVar
BBLN_chr9_128155265_128168924	128155573	G G	GCCCCCCC GCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(63): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18945.hp2 NA18946.hp1 NA18953.hp2 NA18957.hp2 NA18963.hp1 NA18977.hp1 NA18982.hp2 NA18989.hp1 NA19004.hp1 NA19067.hp2 NA19072.hp2 NA19080.hp1 NA19083.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0004g0019 a0001c0001t0006g0008	66	396	0.1667	7	c.-48 others(18): Show c.-4835_-4834insCCCCCCC	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding		4691		chr9	TogoVar
BBOX1_chr11_27035815_27132809	27057064	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG03239.hp2 others(8): Show HG00280.hp2 HG00738.hp1 HG03239.hp2 HG03688.hp1 HG04184.hp2 HG04199.hp2 NA18949.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0090 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0002g0135 a0001c0001t0002g0158 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0004g0125 a0001c0003t0001g0048	11	318	0.0346	7	c.220 others(22): Show c.220-122_220-116dupAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS2_chr16_56479385_56525024	56523702	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show HG02258.hp1 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 others(6): Show a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0274 a0003c0003t0003g0275 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0278	11	398	0.0276	7	c.-38 others(18): Show c.-3847_-3841dupAAAAAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		3679		chr16	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp2 HG01258.hp1 others(29): Show HG01071.hp2 HG01109.hp2 HG01258.hp1 HG01891.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp1 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03195.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 NA18946.hp1 NA18949.hp2 NA18959.hp2 NA18968.hp1 NA18978.hp2 NA18991.hp2 NA18994.hp1 NA19009.hp2 NA19054.hp1 NA19063.hp2 NA19078.hp1 NA19085.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 others(29): Show a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0384 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0346 a0001c0001t0002g0395 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0004t0001g0380 a0001c0004t0001g0386 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0290 a0002c0002t0001g0291	32	398	0.0804	7	c.24+ others(22): Show c.24+2174_24+2180dupTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp1 HG02027.hp1 others(6): Show HG00438.hp1 HG01346.hp1 HG02027.hp1 HG02074.hp1 HG03486.hp2 NA18990.hp1 NA19007.hp1 NA19064.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0148 a0001c0001t0001g0392 a0002c0002t0001g0018 others(6): Show a0001c0001t0001g0148 a0001c0001t0001g0392 a0002c0002t0001g0018 a0002c0002t0001g0212 a0002c0002t0001g0230 a0002c0002t0001g0249 a0002c0002t0001g0256 a0002c0002t0001g0298 a0002c0002t0001g0303	9	398	0.0226	7	c.77- others(22): Show c.77-6881_77-6875dupTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33286994	G G	GAAGAACT GAAGAACT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp2 HG00558.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0105 a0001c0001t0001g0104 a0001c0001t0002g0105	2	268	0.0075	7	c.101 others(28): Show c.1016+13039_1016+13045dupAAGAACT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565839	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp1 HG02630.hp2 others(2): Show HG01081.hp1 HG02451.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0118 a0001c0001t0002g0044 a0001c0001t0002g0134	5	268	0.0187	7	c.252 others(28): Show c.2521+31663_2521+31664insTATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33602205	T T	TACACAGC TACACAGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(198): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18980.hp1 NA18982.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0015	a0001c0001 a0001c0009 a0001c0010 others(20): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0021 a0001c0023 a0001c0025 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0004c0022 a0005c0011 a0005c0012 a0006c0005 a0007c0006 a0008c0007 a0009c0008 a0010c0014 a0012c0018 a0013c0019 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0021t0001 a0001c0023t0001 a0001c0025t0003 a0001c0026t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0004c0022t0001 a0005c0011t0001 a0005c0012t0007 a0005c0012t0015 a0006c0005t0001 a0006c0005t0007 a0007c0006t0001 a0007c0006t0005 a0008c0007t0001 a0009c0008t0001 a0010c0014t0001 a0012c0018t0001 a0013c0019t0003 a0015c0015t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(198): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0002g0112 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0021t0001g0251 a0001c0023t0001g0168 a0001c0025t0003g0030 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0146 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0011t0001g0236 a0005c0011t0001g0238 a0005c0012t0007g0235 a0005c0012t0015g0237 a0006c0005t0001g0140 a0006c0005t0001g0180 a0006c0005t0007g0128 a0006c0005t0007g0139 a0007c0006t0001g0115 a0007c0006t0005g0091 a0008c0007t0001g0150 a0009c0008t0001g0122 a0010c0014t0001g0103 a0012c0018t0001g0127 a0013c0019t0003g0250 a0015c0015t0001g0100	201	268	0.7500	7	c.252 others(26): Show c.2522-2659_2522-2653dupACACAGC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107737884	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp2 others(12): Show HG00099.hp2 HG00140.hp1 HG00733.hp2 HG01257.hp2 HG01496.hp1 HG01884.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG03098.hp1 HG04228.hp1 NA18906.hp1 NA18952.hp1 NA18994.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0044 a0001c0001t0056	a0001c0001t0001g0206 a0001c0001t0002g0076 a0001c0001t0002g0087 others(12): Show a0001c0001t0001g0206 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0005g0019 a0001c0001t0005g0028 a0001c0001t0005g0083 a0001c0001t0005g0144 a0001c0001t0006g0175 a0001c0001t0007g0066 a0001c0001t0007g0164 a0001c0001t0020g0098 a0001c0001t0021g0101 a0001c0001t0027g0097 a0001c0001t0044g0086 a0001c0001t0056g0167	15	222	0.0676	7	c.669 others(24): Show c.669+4885_669+4891dupTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAP29_chr7_107575246_107625478	107594463	C C	CAGGCACA CAGGCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(292): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(267): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0105 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0354 a0001c0001t0004g0002 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0006g0060 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0070 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0086 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0007g0350 a0001c0001t0007g0352 a0001c0001t0007g0353 a0001c0001t0008g0004 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0183 a0001c0001t0010g0131 a0001c0001t0010g0167 a0001c0001t0011g0179 a0001c0001t0011g0182 a0001c0001t0013g0351 a0001c0001t0014g0175 a0001c0001t0015g0164 a0001c0001t0016g0247 a0001c0001t0017g0341 a0001c0001t0018g0089 a0001c0001t0019g0048	295	398	0.7412	7	c.344 others(22): Show c.344+360_344+361insGCACAAG	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP31_chrX_153695492_153729387	153700135	C C	CGGGGGGG CGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03209.hp1 HG03516.hp1 others(2): Show HG01891.hp1 HG03209.hp1 HG03516.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0013 a0001c0001t0001g0118 a0001c0001t0001g0119	5	267	0.0187	7	c.80 others(16): Show c.801_*802insCCCCCCC	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding		356		chrX	TogoVar
BCAP31_chrX_153695492_153729387	153703306	G G	GCCCTGGC GCCCTGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	267	0.0038	7	c.478 others(22): Show c.478-255_478-249dupGCCAGGG	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding	5/7			chrX	TogoVar
BCAR1_chr16_75223181_75256624	75225506	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG02738.hp2 others(3): Show HG01361.hp1 HG01361.hp2 HG02738.hp2 HG03491.hp1 NA18991.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0003 a0001c0008t0004 a0002c0002t0001 a0001c0008t0003 a0001c0008t0004 a0002c0002t0001	a0001c0008t0003g0099 a0001c0008t0003g0100 a0001c0008t0003g0101 others(3): Show a0001c0008t0003g0099 a0001c0008t0003g0100 a0001c0008t0003g0101 a0001c0008t0004g0091 a0002c0002t0001g0024 a0002c0002t0001g0050	6	392	0.0153	7	c.39 others(18): Show c.3998_*4004dupAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding		2674		chr16	TogoVar
BCAR1_chr16_75223181_75256624	75245964	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(13): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00639.hp1 HG01081.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01943.hp1 HG02622.hp1 HG03239.hp1 HG04115.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0038 others(1): Show a0001c0001 a0001c0003 a0001c0038 a0005c0010	a0001c0001t0002 a0001c0001t0017 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0003t0002 a0001c0038t0002 a0005c0010t0001	a0001c0001t0002g0127 a0001c0001t0002g0191 a0001c0001t0017g0126 others(9): Show a0001c0001t0002g0127 a0001c0001t0002g0191 a0001c0001t0017g0126 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0038t0002g0084 a0005c0010t0001g0118	16	392	0.0408	7	c.13- others(22): Show c.13-2881_13-2875dupAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAR3_chr1_93556741_93686837	93565388	T T	TTCAGTTA TTCAGTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(132): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0008 a0009 a0011 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0008 others(12): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0018 a0001c0019 a0002c0003 a0004c0005 a0006c0007 a0008c0013 a0009c0015 a0011c0017 a0013c0021 a0014c0011 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0008t0001 a0001c0009t0001 a0001c0018t0001 a0001c0019t0001 a0002c0003t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0006 a0006c0007t0001 a0008c0013t0001 a0009c0015t0001 a0011c0017t0001 a0013c0021t0001 a0014c0011t0001 a0015c0022t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 others(129): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0004g0005 a0001c0001t0005g0039 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0134 a0001c0008t0001g0102 a0001c0008t0001g0183 a0001c0009t0001g0153 a0001c0009t0001g0185 a0001c0018t0001g0032 a0001c0019t0001g0095 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0198 a0004c0005t0001g0031 a0004c0005t0001g0054 a0004c0005t0001g0062 a0004c0005t0002g0194 a0004c0005t0006g0186 a0006c0007t0001g0056 a0006c0007t0001g0074 a0008c0013t0001g0043 a0009c0015t0001g0086 a0011c0017t0001g0117 a0013c0021t0001g0156 a0014c0011t0001g0104 a0015c0022t0001g0072	135	202	0.6683	7	c.229 others(26): Show c.2299+1890_2299+1891insTAACTGA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	11/11			chr1	TogoVar
BCAR3_chr1_93556741_93686837	93675925	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG01167.hp2 others(17): Show HG00673.hp2 HG01070.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG02717.hp2 HG02976.hp1 HG03225.hp2 NA18946.hp2 NA18947.hp2 NA18967.hp1 NA18977.hp1 NA18983.hp2 NA18995.hp2 NA19001.hp1 NA19012.hp2 NA19068.hp1 NA19075.hp2 NA19084.hp2 NA20300.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0003c0004 others(3): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005 a0006c0007 a0008c0013	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0004c0005t0001 a0006c0007t0001 a0008c0013t0001	a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0049 others(17): Show a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0059 a0001c0002t0001g0060 a0003c0004t0001g0087 a0004c0005t0001g0054 a0006c0007t0001g0056 a0008c0013t0001g0043	20	202	0.0990	7	c.-11 others(22): Show c.-11-991_-11-985dupTTTTTTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/11			chr1	TogoVar
BCAR3_chr1_93556741_93686837	93684721	G G	GTGTTTTT GTGTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02257.hp1 HG03130.hp1 others(2): Show HG01928.hp2 HG02257.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0085	5	202	0.0248	7	c.-31 others(18): Show c.-3142_-3136dupAAAAACA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding		2885		chr1	TogoVar
BCAR3_chr1_93556741_93686837	93684724	T T	TTTTTTGC TTTTTTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00639.hp1 others(91): Show HG00408.hp1 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18946.hp1 NA18947.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18983.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19075.hp2 NA19079.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0012 a0015	a0001c0001 a0001c0002 a0001c0018 others(11): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0002c0006 a0002c0014 a0003c0004 a0004c0005 a0005c0010 a0006c0007 a0008c0013 a0009c0015 a0012c0020 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0018t0001 a0002c0003t0002 a0002c0006t0001 a0002c0014t0001 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0006 a0005c0010t0002 a0006c0007t0001 a0008c0013t0001 a0009c0015t0001 a0012c0020t0001 a0015c0022t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 others(88): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0005g0039 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0018t0001g0032 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0006t0001g0009 a0002c0006t0001g0028 a0002c0006t0001g0093 a0002c0014t0001g0064 a0003c0004t0001g0040 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0002g0188 a0004c0005t0001g0031 a0004c0005t0001g0054 a0004c0005t0001g0062 a0004c0005t0002g0194 a0004c0005t0006g0186 a0005c0010t0002g0187 a0006c0007t0001g0056 a0006c0007t0001g0074 a0008c0013t0001g0043 a0009c0015t0001g0086 a0012c0020t0001g0079 a0015c0022t0001g0072	94	202	0.4654	7	c.-31 others(18): Show c.-3139_-3138insGCAAAAA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding		2888		chr1	TogoVar
BCAS1_chr20_53938541_54075594	54044837	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02523.hp1 HG02647.hp1 others(6): Show HG01081.hp2 HG02523.hp1 HG02647.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18965.hp2 NA18969.hp2 NA19043.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0007c0008	a0001c0001t0004 a0001c0001t0030 a0001c0001t0039 others(5): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0039 a0001c0001t0051 a0002c0002t0001 a0002c0002t0002 a0006c0006t0018 a0007c0008t0016	a0001c0001t0004g0324 a0001c0001t0030g0249 a0001c0001t0039g0358 others(6): Show a0001c0001t0004g0324 a0001c0001t0030g0249 a0001c0001t0039g0358 a0001c0001t0051g0315 a0002c0002t0001g0130 a0002c0002t0001g0355 a0002c0002t0002g0115 a0006c0006t0018g0323 a0007c0008t0016g0218	9	364	0.0247	7	c.142 others(26): Show c.142+13241_142+13247dupTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54051726	T T	TTTGTTTG TTTGTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp2 NA19240.hp1 HG01243.hp2 HG02717.hp2 NA19240.hp1	a0006 a0012 a0006 a0012	a0006c0006 a0012c0016 a0006c0006 a0012c0016	a0006c0006t0023 a0012c0016t0009 a0006c0006t0023 a0012c0016t0009	a0006c0006t0023g0071 a0006c0006t0023g0201 a0012c0016t0009g0261 a0006c0006t0023g0071 a0006c0006t0023g0201 a0012c0016t0009g0261	3	364	0.0082	7	c.142 others(24): Show c.142+6358_142+6359insCAAACAA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60854949	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG03453.hp2 others(3): Show HG01891.hp1 HG03041.hp1 HG03453.hp2 HG03579.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0003c0001t0001 a0001c0004t0001 a0001c0004t0002 a0003c0001t0001	a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 others(3): Show a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0002g0044 a0003c0001t0001g0028	6	74	0.0811	7	c.477 others(26): Show c.477-13612_477-13606dupTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60911123	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01256.hp1 others(9): Show HG00639.hp2 HG01099.hp2 HG01256.hp1 HG02083.hp1 HG02559.hp1 HG02897.hp2 HG03195.hp1 HG03453.hp1 NA18906.hp1 NA18951.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 a0001c0004 a0002c0003 a0003c0001	a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 a0003c0001t0001	a0001c0004t0001g0046 a0002c0003t0001g0037 a0002c0003t0001g0038 others(9): Show a0001c0004t0001g0046 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0041 a0002c0003t0002g0036 a0002c0003t0002g0048 a0003c0001t0001g0003 a0003c0001t0001g0006 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0010 a0003c0001t0001g0012	12	74	0.1622	7	c.993 others(22): Show c.993+432_993+438dupTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60976020	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02145.hp2 HG02486.hp1 others(1): Show HG02083.hp1 HG02145.hp2 HG02486.hp1 HG02886.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0001 a0001c0002 a0002c0003 a0003c0001	a0001c0002t0001 a0002c0003t0002 a0002c0003t0003 others(1): Show a0001c0002t0001 a0002c0003t0002 a0002c0003t0003 a0003c0001t0001	a0001c0002t0001g0059 a0002c0003t0002g0039 a0002c0003t0003g0013 others(1): Show a0001c0002t0001g0059 a0002c0003t0002g0039 a0002c0003t0003g0013 a0003c0001t0001g0009	4	74	0.0541	7	c.122 others(28): Show c.1222-13937_1222-13931dupTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61042912	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01952.hp2 HG02886.hp2 others(1): Show HG01099.hp1 HG01952.hp2 HG02886.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0004c0009t0001 a0001c0002t0002 a0004c0009t0001	a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 others(1): Show a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0004c0009t0001g0055	4	74	0.0541	7	c.202 others(26): Show c.2029+2023_2029+2024insAAAGAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045967	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0045 a0001c0004t0002g0044 a0001c0004t0001g0045 a0001c0004t0002g0044	2	74	0.0270	7	c.202 others(26): Show c.2029+5076_2029+5082dupATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045977	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03195.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0041 a0002c0003t0002g0036 a0002c0003t0001g0041 a0002c0003t0002g0036	2	74	0.0270	7	c.202 others(26): Show c.2029+5085_2029+5086insATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCAS4_chr20_50790061_50882177	50816791	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG01361.hp2 others(12): Show HG01123.hp1 HG01346.hp1 HG01361.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp1 HG02630.hp1 HG03098.hp2 HG03490.hp2 HG03579.hp1 HG04199.hp1 NA18971.hp1 NA19012.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0005t0002 a0003c0005t0006	a0001c0001t0001g0001 a0001c0001t0003g0239 a0002c0002t0001g0025 others(12): Show a0001c0001t0001g0001 a0001c0001t0003g0239 a0002c0002t0001g0025 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0059 a0002c0002t0002g0030 a0002c0002t0002g0041 a0002c0002t0003g0036 a0002c0002t0003g0058 a0002c0002t0004g0061 a0003c0005t0002g0128 a0003c0005t0006g0084 a0003c0005t0006g0085	15	270	0.0556	7	c.91- others(22): Show c.91-1395_91-1389dupTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50872263	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp2 HG02145.hp2 others(7): Show HG01167.hp1 HG01952.hp2 HG02145.hp2 HG02622.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA18967.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0004	a0001c0001t0001g0179 a0001c0001t0004g0040 a0001c0001t0004g0098 others(7): Show a0001c0001t0001g0179 a0001c0001t0004g0040 a0001c0001t0004g0098 a0001c0001t0004g0139 a0001c0001t0004g0190 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0004g0235 a0001c0003t0001g0208 a0001c0004t0004g0013	10	270	0.0370	7	c.400 others(24): Show c.400-4208_400-4202dupAAAAAAA	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24836895	A A	AAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18940.hp2 NA18956.hp2 others(4): Show HG01978.hp2 NA18940.hp2 NA18956.hp2 NA18964.hp2 NA18971.hp2 NA19057.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0065 a0001c0001t0132 a0001c0001t0003 a0001c0001t0065 a0001c0001t0132	a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0134 others(4): Show a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0134 a0001c0001t0003g0242 a0001c0001t0003g0277 a0001c0001t0065g0065 a0001c0001t0132g0314	7	322	0.0217	7	c.818 others(22): Show c.818-300_818-299insCTTTCTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01070.hp1 others(16): Show HG00099.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01975.hp2 HG02135.hp2 HG02293.hp2 HG03017.hp2 HG03239.hp2 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 others(6): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0025 a0001c0001t0041 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102	a0001c0001t0006g0183 a0001c0001t0006g0187 a0001c0001t0006g0202 others(16): Show a0001c0001t0006g0183 a0001c0001t0006g0187 a0001c0001t0006g0202 a0001c0001t0006g0209 a0001c0001t0006g0232 a0001c0001t0006g0281 a0001c0001t0006g0283 a0001c0001t0009g0214 a0001c0001t0015g0026 a0001c0001t0015g0027 a0001c0001t0015g0028 a0001c0001t0015g0033 a0001c0001t0025g0211 a0001c0001t0025g0282 a0001c0001t0041g0008 a0001c0001t0099g0201 a0001c0001t0100g0216 a0001c0001t0101g0184 a0001c0001t0102g0059	19	322	0.0590	7	c.675 others(24): Show c.675-2677_675-2671dupTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24871138	A A	ATGCCAAT ATGCCAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(73): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18992.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0005 a0001c0001 a0001c0002 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0097 a0001c0001t0109 a0001c0001t0117 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0002t0019 a0001c0002t0031 a0006c0005t0038	a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 others(73): Show a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 a0001c0001t0003g0025 a0001c0001t0003g0034 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0134 a0001c0001t0003g0215 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0277 a0001c0001t0003g0292 a0001c0001t0005g0220 a0001c0001t0005g0222 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 a0001c0001t0005g0237 a0001c0001t0005g0279 a0001c0001t0008g0046 a0001c0001t0008g0078 a0001c0001t0008g0287 a0001c0001t0014g0200 a0001c0001t0016g0024 a0001c0001t0020g0087 a0001c0001t0020g0293 a0001c0001t0020g0294 a0001c0001t0023g0126 a0001c0001t0023g0175 a0001c0001t0024g0018 a0001c0001t0024g0278 a0001c0001t0026g0103 a0001c0001t0028g0021 a0001c0001t0032g0139 a0001c0001t0032g0276 a0001c0001t0037g0107 a0001c0001t0037g0254 a0001c0001t0038g0176 a0001c0001t0043g0257 a0001c0001t0047g0312 a0001c0001t0047g0313 a0001c0001t0052g0199 a0001c0001t0054g0174 a0001c0001t0057g0260 a0001c0001t0060g0097 a0001c0001t0061g0161 a0001c0001t0063g0206 a0001c0001t0064g0171 a0001c0001t0065g0065 a0001c0001t0066g0086 a0001c0001t0067g0153 a0001c0001t0071g0088 a0001c0001t0072g0075 a0001c0001t0073g0156 a0001c0001t0081g0269 a0001c0001t0082g0258 a0001c0001t0087g0023 a0001c0001t0089g0255 a0001c0001t0090g0022 a0001c0001t0091g0290 a0001c0001t0097g0073 a0001c0001t0109g0194 a0001c0001t0117g0129 a0001c0001t0130g0317 a0001c0001t0131g0308 a0001c0001t0132g0314 a0001c0002t0019g0043 a0001c0002t0019g0069 a0001c0002t0019g0172 a0001c0002t0031g0036 a0001c0002t0031g0241 a0006c0005t0038g0079	76	322	0.2360	7	c.510 others(24): Show c.510+7385_510+7391dupATTGGCA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	5/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24898520	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp1 HG02155.hp2 others(5): Show HG01169.hp1 HG01884.hp1 HG02155.hp2 HG02922.hp2 HG03453.hp2 HG04184.hp2 NA18959.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0001c0001t0040 a0001c0001t0078	a0001c0001t0001g0019 a0001c0001t0002g0285 a0001c0001t0002g0286 others(5): Show a0001c0001t0001g0019 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0009g0057 a0001c0001t0023g0126 a0001c0001t0023g0175 a0001c0001t0040g0250 a0001c0001t0078g0083	8	322	0.0248	7	c.78+ others(22): Show c.78+3287_78+3293dupAAAAAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	2/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02630.hp2 others(5): Show HG01168.hp1 HG01169.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03453.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 others(4): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0037 a0001c0001t0071 a0001c0001t0078 a0001c0001t0080	a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0013g0053 others(5): Show a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0013g0053 a0001c0001t0020g0087 a0001c0001t0037g0107 a0001c0001t0071g0088 a0001c0001t0078g0083 a0001c0001t0080g0050	8	322	0.0248	7	c.-26 others(18): Show c.-2659_-2658insTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48793958	T T	TGTGTGTG TGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01257.hp2 HG01258.hp1 others(3): Show HG01167.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG02135.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0240	6	408	0.0147	7	c.14 others(18): Show c.1467_*1468insCACACAC	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		1105		chr19	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(70): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01123.hp1 HG01167.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18969.hp2 NA18977.hp1 NA18980.hp1 NA18986.hp2 NA18994.hp1 NA19012.hp2 NA19030.hp1 NA19068.hp1 NA19078.hp2 NA19080.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0006 a0001c0001 a0004c0004 a0006c0006	a0001c0001t0001 a0004c0004t0001 a0006c0006t0001 a0001c0001t0001 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0237 a0001c0001t0001g0238 a0004c0004t0001g0095 a0006c0006t0001g0138	73	408	0.1789	7	c.-48 others(16): Show c.-488_-487insTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41407028	A A	ACTTTGTG ACTTTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show HG01109.hp2 HG02572.hp2 HG02818.hp2 HG02976.hp2 HG03540.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0001 a0001c0014t0001 a0001c0008t0001 a0001c0014t0001	a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 others(3): Show a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 a0001c0008t0001g0263 a0001c0008t0001g0264 a0001c0014t0001g0260	7	374	0.0187	7	c.109 others(24): Show c.109-3608_109-3607insTTTGTGC	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41408248	C C	CCCAGCAT CCCAGCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(228): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(7): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0002c0003 a0002c0010 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0002c0003t0001 a0002c0010t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(180): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0006t0001g0114 a0001c0006t0001g0115 a0001c0006t0001g0137 a0001c0006t0002g0013 a0001c0006t0002g0113 a0001c0007t0001g0037 a0001c0007t0001g0121 a0001c0007t0001g0236 a0001c0007t0001g0237 a0001c0007t0001g0238 a0001c0007t0001g0240 a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 a0001c0008t0001g0263 a0001c0008t0001g0264 a0001c0009t0001g0257 a0001c0009t0001g0258 a0001c0009t0001g0259 a0001c0011t0001g0249 a0001c0014t0001g0260 a0002c0003t0001g0017 a0002c0003t0001g0032 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0010t0001g0185 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0220 a0003c0005t0001g0222 a0003c0005t0001g0223 a0003c0005t0001g0243	231	374	0.6177	7	c.109 others(24): Show c.109-2386_109-2380dupAGCATCC	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCL11A_chr2_60452194_60558654	60553511	A A	AAAAGAGG AAAAGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02109.hp2 HG02965.hp2 others(3): Show HG02027.hp2 HG02109.hp2 HG02965.hp2 HG03130.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0018 a0001c0001t0057 a0001c0001t0059 others(1): Show a0001c0001t0018 a0001c0001t0057 a0001c0001t0059 a0001c0004t0058	a0001c0001t0018g0207 a0001c0001t0018g0209 a0001c0001t0018g0211 others(3): Show a0001c0001t0018g0207 a0001c0001t0018g0209 a0001c0001t0018g0211 a0001c0001t0057g0208 a0001c0001t0059g0210 a0001c0004t0058g0206	6	262	0.0229	7	c.-24 others(16): Show c.-242_-241insCCTCTTT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	1/4	242		chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52112811	G G	GCCCCGGC GCCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01891.hp2 others(16): Show HG01109.hp2 HG01496.hp2 HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 NA18962.hp2 NA19030.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0005g0050 a0002c0002t0005g0052 a0002c0002t0005g0110 a0002c0002t0005g0113 a0002c0002t0005g0117 a0002c0002t0008g0132	19	458	0.0415	7	c.-86 others(14): Show c.-86_-85insGCCGGGG	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		37		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATATTT ATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG03942.hp1 others(6): Show HG00280.hp1 HG00639.hp1 HG03942.hp1 HG03942.hp2 NA18953.hp1 NA18953.hp2 NA18974.hp2 NA19057.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0100 a0001c0001t0002g0126 a0001c0001t0002g0138 others(6): Show a0001c0001t0002g0100 a0001c0001t0002g0126 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0188 a0001c0001t0002g0216 a0001c0001t0002g0245 a0001c0001t0004g0155 a0001c0001t0010g0235	9	306	0.0294	7	c.-51 others(24): Show c.-51+8070_-51+8071insATATTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATTTTT ATATTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(12): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG02257.hp2 HG02818.hp1 HG03486.hp2 NA18964.hp1 NA18964.hp2 NA18984.hp1 NA18986.hp1 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0029 a0001c0001t0048 a0001c0001t0056	a0001c0001t0002g0141 a0001c0001t0002g0172 a0001c0001t0002g0175 others(12): Show a0001c0001t0002g0141 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0173 a0001c0001t0008g0234 a0001c0001t0018g0207 a0001c0001t0029g0174 a0001c0001t0048g0140 a0001c0001t0056g0214	15	306	0.0490	7	c.-51 others(24): Show c.-51+8070_-51+8071insATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17657823	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG01192.hp1 others(10): Show HG00544.hp1 HG01109.hp1 HG01192.hp1 HG01261.hp1 HG02109.hp1 HG02148.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG03471.hp1 HG03516.hp2 HG04115.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0021 a0001c0001t0055 a0001c0001t0061 a0001c0001t0064 a0001c0014t0007	a0001c0001t0002g0116 a0001c0001t0002g0189 a0001c0001t0002g0204 others(10): Show a0001c0001t0002g0116 a0001c0001t0002g0189 a0001c0001t0002g0204 a0001c0001t0005g0060 a0001c0001t0005g0117 a0001c0001t0005g0145 a0001c0001t0005g0197 a0001c0001t0018g0206 a0001c0001t0021g0018 a0001c0001t0055g0129 a0001c0001t0061g0016 a0001c0001t0064g0304 a0001c0014t0007g0010	13	306	0.0425	7	c.121 others(24): Show c.121+2006_121+2012dupTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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