Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAZ2B_chr2_159313979_159621548	159468311	AAAC AAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02738.hp1 HG03834.hp2 HG00323.hp2 HG02738.hp1 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0003 a0001c0001 a0001c0008 a0003c0003	a0001c0001t0002 a0001c0008t0002 a0003c0003t0002 a0001c0001t0002 a0001c0008t0002 a0003c0003t0002	a0001c0001t0002g0214 a0001c0008t0002g0179 a0003c0003t0002g0182 a0001c0001t0002g0214 a0001c0008t0002g0179 a0003c0003t0002g0182	3	216	0.0139	-3	c.145 others(22): Show c.145+10261_145+10263delGTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	3/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159495484	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01169.hp2 others(4): Show HG01081.hp1 HG01168.hp2 HG01169.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 NA18968.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0004c0009	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0004c0009t0001	a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0008t0001g0035 a0002c0002t0001g0126 a0004c0009t0001g0099	7	216	0.0324	-3	c.-2- others(20): Show c.-2-16766_-2-16764delTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159496375	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01168.hp2 others(5): Show HG00323.hp2 HG01168.hp1 HG01168.hp2 HG01257.hp1 HG02896.hp1 NA18942.hp1 NA18965.hp1 NA19002.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0003c0003t0002 a0004c0009t0001	a0001c0001t0001g0127 a0001c0001t0002g0150 a0001c0001t0002g0156 others(5): Show a0001c0001t0001g0127 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0008t0001g0035 a0002c0002t0001g0124 a0003c0003t0002g0182 a0004c0009t0001g0100	8	216	0.0370	-3	c.-2- others(20): Show c.-2-17657_-2-17655delTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159496783	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp1 HG03041.hp1 others(3): Show HG00642.hp1 HG02257.hp1 HG03041.hp1 HG03654.hp1 HG06807.hp2 NA18980.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0004c0009t0001 a0007c0010t0001	a0001c0001t0001g0101 a0001c0001t0002g0144 a0001c0001t0004g0110 others(3): Show a0001c0001t0001g0101 a0001c0001t0002g0144 a0001c0001t0004g0110 a0002c0002t0001g0098 a0004c0009t0001g0099 a0007c0010t0001g0114	6	216	0.0278	-3	c.-2- others(20): Show c.-2-18065_-2-18063delTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159527620	GAGA GAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19043.hp2 HG02615.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0138 a0001c0001t0002g0139	2	216	0.0093	-3	c.-3+ others(20): Show c.-3+28200_-3+28202delTCT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159541259	CTTA CTTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(31): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp2 HG01106.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG02004.hp1 HG02132.hp2 HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03195.hp2 HG03516.hp1 HG03516.hp2 HG03942.hp1 HG06807.hp1 NA18949.hp1 NA18999.hp2 NA19043.hp1 NA19072.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0014 a0021	a0001c0001 a0001c0008 a0001c0019 others(10): Show a0001c0001 a0001c0008 a0001c0019 a0002c0002 a0002c0007 a0002c0018 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0006c0016 a0014c0024 a0021c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0008t0002 a0001c0019t0002 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0002c0018t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0002 a0006c0016t0002 a0014c0024t0001 a0021c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0032 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0003g0001 a0001c0001t0009g0132 a0001c0008t0002g0159 a0001c0019t0002g0136 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0090 a0002c0002t0001g0103 a0002c0002t0002g0143 a0002c0002t0002g0201 a0002c0007t0002g0135 a0002c0018t0001g0066 a0003c0003t0001g0014 a0004c0004t0001g0013 a0005c0005t0001g0094 a0006c0006t0002g0149 a0006c0016t0002g0146 a0014c0024t0001g0088 a0021c0012t0001g0073	34	216	0.1574	-3	c.-3+ others(20): Show c.-3+14561_-3+14563delTAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159555087	TGTA TGTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG02257.hp1 others(9): Show HG00639.hp2 HG01169.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG06807.hp2 NA19072.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0004c0009t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0009t0001 a0005c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0102 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0098 a0002c0002t0001g0103 a0004c0009t0001g0099 a0004c0009t0001g0100 a0005c0005t0001g0094	12	216	0.0556	-3	c.-3+ others(16): Show c.-3+733_-3+735delTAC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02622.hp2 HG03516.hp2 others(3): Show HG02135.hp1 HG02622.hp2 HG03516.hp2 NA18961.hp2 NA18985.hp1 NA19240.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0001 a0001c0001t0002 a0013c0022t0001 a0001c0001t0001 a0001c0001t0002 a0013c0022t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0002g0133 a0001c0001t0002g0134 a0013c0022t0001g0027	6	216	0.0278	-3	c.-46 others(22): Show c.-46+26052_-46+26054delTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159597995	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(64): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG02004.hp2 HG02135.hp2 HG02300.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02965.hp1 HG03209.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0018 a0020	a0001c0001 a0001c0008 a0001c0023 others(11): Show a0001c0001 a0001c0008 a0001c0023 a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0009c0015 a0012c0021 a0018c0032 a0020c0014	a0001c0001t0002 a0001c0008t0002 a0001c0023t0002 others(11): Show a0001c0001t0002 a0001c0008t0002 a0001c0023t0002 a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 a0003c0003t0002 a0004c0004t0002 a0005c0005t0002 a0006c0006t0002 a0009c0015t0002 a0012c0021t0002 a0018c0032t0002 a0020c0014t0002	a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 others(64): Show a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0008t0002g0159 a0001c0008t0002g0179 a0001c0023t0002g0147 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0201 a0002c0002t0002g0211 a0002c0007t0002g0185 a0002c0007t0002g0215 a0002c0028t0002g0216 a0003c0003t0002g0177 a0003c0003t0002g0182 a0004c0004t0002g0203 a0005c0005t0002g0167 a0005c0005t0002g0173 a0005c0005t0002g0202 a0006c0006t0002g0149 a0009c0015t0002g0168 a0012c0021t0002g0171 a0018c0032t0002g0154 a0020c0014t0002g0181	67	216	0.3102	-3	c.-46 others(22): Show c.-46+18244_-46+18246delAAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159610577	GCTC GCTC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20129.hp1 NA20129.hp2 others(1): Show NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0003c0003t0001g0031	4	216	0.0185	-3	c.-46 others(20): Show c.-46+5662_-46+5664delGAG	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159610651	CATT CATT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01358.hp1 others(5): Show HG01257.hp1 HG01258.hp2 HG01358.hp1 HG02135.hp2 HG02300.hp1 NA18961.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0207 others(5): Show a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0002c0002t0002g0211	8	216	0.0370	-3	c.-46 others(20): Show c.-46+5588_-46+5590delAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159613459	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02622.hp1 others(10): Show HG00639.hp2 HG02257.hp1 HG02622.hp1 HG02630.hp1 HG02896.hp1 HG03041.hp1 HG03710.hp1 HG06807.hp2 NA18949.hp2 NA18950.hp1 NA19002.hp2 NA19055.hp1 NA19072.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0018	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0018c0032	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0009t0001 a0018c0032t0002	a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0102 others(10): Show a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0002g0151 a0004c0009t0001g0099 a0004c0009t0001g0100 a0018c0032t0002g0154	13	216	0.0602	-3	c.-46 others(20): Show c.-46+2780_-46+2782delTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47227311	GCCC GCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(124): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(71): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0046 a0001c0001t0002g0067 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0138 a0001c0001t0002g0194 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0003g0007 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0071 a0001c0001t0003g0091 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0004g0025 a0001c0001t0004g0057 a0001c0001t0004g0105 a0001c0001t0004g0191 a0001c0001t0005g0024 a0001c0001t0005g0039 a0001c0001t0005g0086 a0001c0001t0005g0142 a0001c0001t0005g0192 a0001c0001t0006g0228 a0001c0001t0008g0139 a0001c0001t0010g0011 a0001c0001t0010g0069 a0001c0001t0012g0094 a0001c0001t0012g0095 a0001c0001t0012g0097 a0001c0001t0013g0143 a0001c0001t0014g0036 a0001c0001t0014g0070 a0001c0001t0016g0026 a0001c0001t0017g0040 a0001c0001t0018g0144 a0001c0001t0023g0096 a0001c0001t0024g0089 a0001c0001t0031g0190 a0002c0002t0001g0103 a0002c0002t0002g0102	127	412	0.3083	-3	c.275 others(18): Show c.275-560_275-558delGGG	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	2/3			chr19	TogoVar
BBC3_chr19_47215824_47236199	47235984	TCTC TCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp1 others(35): Show HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02273.hp1 HG02738.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp2 NA18612.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18980.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19064.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0031 others(26): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0213 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0067 a0001c0001t0002g0151 a0001c0001t0003g0007 a0001c0001t0003g0048 a0001c0001t0003g0115 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0007g0236 a0001c0001t0013g0143 a0001c0001t0013g0156 a0001c0001t0013g0209 a0001c0001t0015g0157 a0001c0001t0015g0160 a0001c0001t0015g0215 a0001c0001t0018g0126 a0001c0001t0018g0144	38	412	0.0922	-3	c.-50 others(14): Show c.-5074_-5072delGAG	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		4786		chr19	TogoVar
BBC3_chr19_47215824_47236199	47236017	TTCC TTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG06807.hp1 NA18952.hp2 HG03195.hp2 HG06807.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 a0001c0001t0001 a0001c0001t0004 a0001c0001t0033	a0001c0001t0001g0027 a0001c0001t0004g0057 a0001c0001t0033g0223 a0001c0001t0001g0027 a0001c0001t0004g0057 a0001c0001t0033g0223	3	412	0.0073	-3	c.-51 others(14): Show c.-5107_-5105delGGA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		4819		chr19	TogoVar
BBIP1_chr10_110893730_110924180	110905902	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01106.hp1 others(19): Show HG00438.hp2 HG00621.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG02080.hp1 HG02145.hp2 HG02965.hp2 HG03579.hp1 HG04228.hp2 NA18944.hp2 NA18954.hp2 NA18965.hp2 NA18966.hp2 NA18986.hp1 NA19001.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp2 NA19087.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 a0001c0001t0001 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0126 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0012g0045 a0001c0001t0020g0130	22	418	0.0526	-3	c.38- others(18): Show c.38-4293_38-4291delTTT	BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding	2/3			chr10	TogoVar
BBIP1_chr10_110893730_110924180	110909203	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG02071.hp1 HG02080.hp2 HG02273.hp1 HG02300.hp2 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18990.hp1 NA19003.hp2 NA19004.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0120 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0120 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0023 a0001c0001t0003g0071 a0001c0001t0003g0072	59	418	0.1412	-3	c.38- others(18): Show c.38-7594_38-7592delAAG	BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding	2/3			chr10	TogoVar
BBIP1_chr10_110893730_110924180	110912548	GAGA GAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG03540.hp1 others(1): Show HG02451.hp1 HG03486.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0043 a0001c0001t0006g0168 a0001c0001t0016g0169 a0001c0001t0006g0043 a0001c0001t0006g0168 a0001c0001t0016g0169	4	418	0.0096	-3	c.37+ others(18): Show c.37+5570_37+5572delTCT	BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding	2/3			chr10	TogoVar
BBOF1_chr14_74014349_74071092	74027082	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18940.hp2 NA18942.hp1 others(12): Show HG00544.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18959.hp2 NA18979.hp2 NA18999.hp2 NA19002.hp2 NA19065.hp2 NA19070.hp1 NA19076.hp2 NA19086.hp1 NA19091.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0013 a0003c0003 a0011c0013	a0003c0003t0001 a0003c0003t0015 a0011c0013t0001 a0003c0003t0001 a0003c0003t0015 a0011c0013t0001	a0003c0003t0001g0009 a0003c0003t0001g0023 a0003c0003t0001g0024 others(12): Show a0003c0003t0001g0009 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0080 a0003c0003t0015g0027 a0011c0013t0001g0017	15	386	0.0389	-3	c.286 others(20): Show c.286-2082_286-2080delTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74027385	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03041.hp1 others(3): Show HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03486.hp1 HG03540.hp2 NA18906.hp1	a0004 a0005 a0004 a0005	a0004c0007 a0005c0006 a0004c0007 a0005c0006	a0004c0007t0003 a0005c0006t0001 a0004c0007t0003 a0005c0006t0001	a0004c0007t0003g0004 a0005c0006t0001g0132 a0005c0006t0001g0133 others(3): Show a0004c0007t0003g0004 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0134 a0005c0006t0001g0135 a0005c0006t0001g0136	6	386	0.0155	-3	c.286 others(20): Show c.286-1775_286-1773delTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74032118	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00642.hp2 others(63): Show HG00408.hp1 HG00423.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01981.hp2 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02523.hp2 HG02630.hp1 HG02738.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19065.hp1 NA19080.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0010 a0013 others(1): Show a0001 a0010 a0013 a0014	a0001c0001 a0010c0011 a0013c0017 others(1): Show a0001c0001 a0010c0011 a0013c0017 a0014c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0010c0011t0002 a0013c0017t0001 a0014c0019t0002	a0001c0001t0002g0003 a0001c0001t0002g0292 a0001c0001t0002g0293 others(62): Show a0001c0001t0002g0003 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0011g0317 a0001c0001t0013g0302 a0010c0011t0002g0314 a0010c0011t0002g0337 a0013c0017t0001g0351 a0014c0019t0002g0291	66	386	0.1710	-3	c.352 others(20): Show c.352-1887_352-1885delTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74035413	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02647.hp2 others(5): Show HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1	a0004 a0006 a0004 a0006	a0004c0007 a0004c0009 a0006c0005 a0004c0007 a0004c0009 a0006c0005	a0004c0007t0003 a0004c0009t0007 a0006c0005t0003 others(1): Show a0004c0007t0003 a0004c0009t0007 a0006c0005t0003 a0006c0005t0008	a0004c0007t0003g0004 a0004c0007t0003g0005 a0004c0007t0003g0006 others(5): Show a0004c0007t0003g0004 a0004c0007t0003g0005 a0004c0007t0003g0006 a0004c0007t0003g0007 a0004c0009t0007g0138 a0004c0009t0007g0140 a0006c0005t0003g0374 a0006c0005t0008g0380	8	386	0.0207	-3	c.495 others(20): Show c.495+1261_495+1263delTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74042037	AAAC AAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(43): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03927.hp1 HG03942.hp1 NA18942.hp2 NA18961.hp2 NA18967.hp2 NA18972.hp2 NA18997.hp1 NA19003.hp1 NA19010.hp2 NA19062.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0002 a0004c0004t0004g0087 a0004c0004t0004g0088 others(42): Show a0004c0004t0004g0002 a0004c0004t0004g0087 a0004c0004t0004g0088 a0004c0004t0004g0089 a0004c0004t0004g0090 a0004c0004t0004g0091 a0004c0004t0004g0092 a0004c0004t0004g0093 a0004c0004t0004g0094 a0004c0004t0004g0095 a0004c0004t0004g0096 a0004c0004t0004g0097 a0004c0004t0004g0098 a0004c0004t0004g0099 a0004c0004t0004g0100 a0004c0004t0004g0101 a0004c0004t0004g0102 a0004c0004t0004g0103 a0004c0004t0004g0104 a0004c0004t0004g0105 a0004c0004t0004g0106 a0004c0004t0004g0107 a0004c0004t0004g0108 a0004c0004t0004g0109 a0004c0004t0004g0110 a0004c0004t0004g0111 a0004c0004t0004g0112 a0004c0004t0004g0113 a0004c0004t0004g0114 a0004c0004t0004g0115 a0004c0004t0004g0116 a0004c0004t0004g0117 a0004c0004t0004g0118 a0004c0004t0004g0119 a0004c0004t0004g0120 a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0124 a0004c0004t0004g0125 a0004c0004t0004g0126 a0004c0004t0004g0127 a0004c0004t0004g0128 a0004c0004t0004g0129 a0004c0004t0004g0130	46	386	0.1192	-3	c.576 others(20): Show c.576+1413_576+1415delCAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74043556	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02895.hp2 others(7): Show HG01243.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0001 a0005c0006t0006 a0003c0003t0003 a0005c0006t0001 a0005c0006t0006	a0003c0003t0003g0189 a0005c0006t0001g0131 a0005c0006t0001g0132 others(7): Show a0003c0003t0003g0189 a0005c0006t0001g0131 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0134 a0005c0006t0001g0135 a0005c0006t0001g0136 a0005c0006t0001g0137 a0005c0006t0006g0194 a0005c0006t0006g0196	10	386	0.0259	-3	c.577 others(20): Show c.577-2478_577-2476delAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74050209	TTTA TTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02723.hp2 HG02886.hp1 NA20129.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 others(2): Show a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 a0006c0005t0005g0372 a0006c0005t0005g0373	5	386	0.0130	-3	c.128 others(18): Show c.1286+22_1286+24delTAT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27041184	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01516.hp1 others(3): Show HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02735.hp2 HG03041.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0008t0001	a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0002t0001g0057 a0001c0006t0001g0054 a0002c0008t0001g0053	6	318	0.0189	-3	c.-30 others(18): Show c.-301-16_-301-14delTTT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27070706	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(47): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01346.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp2 HG02735.hp1 HG03579.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18997.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19058.hp2 NA19068.hp2 NA19077.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0005t0001	a0001c0001t0001g0114 a0001c0001t0001g0203 a0001c0001t0001g0227 others(44): Show a0001c0001t0001g0114 a0001c0001t0001g0203 a0001c0001t0001g0227 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0005t0001g0193	50	318	0.1572	-3	c.334 others(22): Show c.334+13409_334+13411delTTT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27077615	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp1 others(5): Show HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01192.hp2 HG01361.hp1 HG02300.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0118 a0001c0001t0003g0246 others(2): Show a0001c0001t0003g0001 a0001c0001t0003g0118 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248	8	318	0.0252	-3	c.335 others(22): Show c.335-15537_335-15535delAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27131048	TCTC TCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01496.hp1 others(4): Show HG00642.hp2 HG01243.hp2 HG01496.hp1 HG02723.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0049 a0001c0002t0001g0003 a0001c0002t0001g0057 others(2): Show a0001c0001t0001g0049 a0001c0002t0001g0003 a0001c0002t0001g0057 a0001c0002t0001g0121 a0001c0002t0001g0130	7	318	0.0220	-3	c.35 others(14): Show c.3596_*3598delCTC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		3240		chr11	TogoVar
BBS12_chr4_122727704_122749939	122733859	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG01891.hp1 others(24): Show HG01175.hp2 HG01255.hp1 HG01891.hp1 HG01952.hp1 HG02004.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG03209.hp2 HG03579.hp2 HG03831.hp1 HG04115.hp2 NA18939.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp2 NA18983.hp2 NA19003.hp1 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19088.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0007 a0001c0016 others(4): Show a0001c0001 a0001c0007 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0007t0005 a0001c0016t0007 others(4): Show a0001c0001t0001 a0001c0007t0005 a0001c0016t0007 a0002c0002t0002 a0003c0003t0003 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0095 a0001c0001t0001g0096 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0007t0005g0077 a0001c0016t0007g0050 a0002c0002t0002g0107 a0003c0003t0003g0079 a0004c0004t0001g0059 a0005c0005t0001g0052 a0005c0005t0001g0054	27	364	0.0742	-3	c.-11 others(18): Show c.-11+996_-11+998delTTT	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS1_chr11_66505635_66538598	66507474	AAAT AAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(102): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03831.hp1 HG03942.hp2 HG04204.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19090.hp1 NA20752.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0010 a0008c0008	a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 a0005c0010t0003 a0008c0008t0003	a0001c0001t0002g0044 a0001c0001t0002g0228 a0001c0001t0002g0244 others(77): Show a0001c0001t0002g0044 a0001c0001t0002g0228 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0019 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0003t0003g0005 a0001c0003t0003g0013 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0121 a0001c0003t0003g0127 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0199 a0005c0010t0003g0106 a0008c0008t0003g0091	105	386	0.2720	-3	c.-31 others(14): Show c.-3185_-3183delAAT	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding		3160		chr11	TogoVar
BBS2_chr16_56479385_56525024	56484006	ATTT ATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01975.hp2 HG02451.hp1 others(11): Show HG01256.hp2 HG01975.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03098.hp2 HG03516.hp1 NA18747.hp1 NA19043.hp2 NA19058.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0152 a0001c0001t0001g0159 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0197 a0001c0001t0002g0043 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0116 a0002c0002t0001g0236 a0002c0002t0001g0246	14	398	0.0352	-3	c.75 others(12): Show c.752_*754delAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		378		chr16	TogoVar
BBS2_chr16_56479385_56525024	56489997	GTCC GTCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show HG00438.hp2 HG01074.hp2 HG02027.hp1 HG02129.hp1 HG02738.hp1 HG03041.hp2 NA18939.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA19056.hp2 NA19057.hp2 NA19077.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0001 a0002c0002t0001 a0002c0010t0001	a0002c0002t0001g0003 a0002c0002t0001g0247 a0002c0002t0001g0252 others(10): Show a0002c0002t0001g0003 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0010t0001g0264	24	398	0.0603	-3	c.191 others(22): Show c.1911-4262_1911-4260delGGA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS2_chr16_56479385_56525024	56491725	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01978.hp1 others(28): Show HG00423.hp1 HG00673.hp2 HG01978.hp1 HG02083.hp2 HG02135.hp1 HG02602.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18964.hp1 NA18969.hp2 NA18979.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp2 NA19011.hp1 NA19030.hp2 NA19066.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0004c0004t0005 a0002c0002t0002 a0004c0004t0002 a0004c0004t0005	a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(25): Show a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0064 a0004c0004t0002g0066 a0004c0004t0002g0067 a0004c0004t0005g0065	31	398	0.0779	-3	c.191 others(22): Show c.1910+5239_1910+5241delTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS4_chr15_72681207_72743473	72683898	CTTT CTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG02055.hp2 others(29): Show HG01255.hp1 HG01891.hp1 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18939.hp1 NA18948.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18994.hp1 NA19000.hp1 NA19011.hp1 NA19057.hp2 NA19078.hp2 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0001t0001 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 others(29): Show a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0383 a0001c0004t0001g0386	32	398	0.0804	-3	c.-23 others(14): Show c.-2329_-2327delTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding		2308		chr15	TogoVar
BBS4_chr15_72681207_72743473	72710195	GTTT GTTT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01257.hp1 others(42): Show HG01123.hp1 HG01167.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03579.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18949.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18990.hp2 NA18995.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19065.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0007c0009t0001 a0001c0001t0001 a0001c0001t0002 a0007c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0312 others(41): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0007c0009t0001g0311	45	398	0.1131	-3	c.156 others(18): Show c.156+439_156+441delTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72720486	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG03139.hp1 others(3): Show HG02258.hp1 HG02818.hp1 HG03139.hp1 HG03225.hp2 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0102	6	398	0.0151	-3	c.406 others(20): Show c.406-2292_406-2290delAAA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72722602	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp2 HG01192.hp1 others(4): Show HG00639.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01943.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(4): Show a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0338	7	398	0.0176	-3	c.406 others(18): Show c.406-187_406-185delTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72729161	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18954.hp2 NA18962.hp1 others(6): Show HG02273.hp2 NA18954.hp2 NA18962.hp1 NA18969.hp1 NA18985.hp1 NA19003.hp2 NA19056.hp1 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0189	9	398	0.0226	-3	c.643 others(18): Show c.643-432_643-430delTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72729247	GTTT GTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0004c0006 a0005c0011 a0006c0010 a0007c0009 a0008c0012 a0009c0008 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0004c0006t0001 a0005c0011t0001 a0006c0010t0001 a0007c0009t0001 a0008c0012t0001 a0009c0008t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(352): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0277 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0002g0003 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0394 a0001c0001t0002g0395 a0001c0001t0005g0038 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0001t0007g0021 a0001c0001t0007g0042 a0001c0001t0008g0005 a0001c0001t0010g0268 a0001c0001t0011g0184 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0383 a0001c0004t0001g0386 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0336 a0002c0002t0001g0339 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0004g0155 a0002c0002t0004g0201 a0002c0002t0004g0243 a0002c0002t0004g0255 a0002c0002t0004g0295 a0002c0002t0009g0236 a0004c0006t0001g0196 a0004c0006t0001g0209 a0005c0011t0001g0040 a0006c0010t0001g0089 a0007c0009t0001g0311 a0008c0012t0001g0032 a0009c0008t0001g0289 a0010c0013t0001g0031	358	398	0.8995	-3	c.643 others(18): Show c.643-352_643-350delTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72731065	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02886.hp2 others(9): Show HG02109.hp2 HG02622.hp1 HG02886.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18941.hp2 NA18949.hp2 NA18957.hp2 NA19009.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0007t0001	a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0332 others(9): Show a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0332 a0001c0001t0001g0366 a0001c0001t0002g0272 a0001c0001t0002g0314 a0001c0001t0002g0324 a0001c0001t0002g0343 a0001c0001t0003g0352 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0007t0001g0053	12	398	0.0302	-3	c.712 others(18): Show c.712-211_712-209delTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169477413	GACA GACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG03486.hp2 others(4): Show HG02486.hp2 HG02630.hp2 HG03486.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0020 a0001c0001t0002 a0001c0003t0020	a0001c0001t0002g0018 a0001c0001t0002g0080 a0001c0003t0020g0109 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0080 a0001c0003t0020g0109 a0001c0003t0020g0110 a0001c0003t0020g0111	7	398	0.0176	-3	c.-21 others(14): Show c.-2140_-2138delACA	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding		2080		chr2	TogoVar
BBS5_chr2_169474494_169511655	169480670	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01516.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02572.hp2 HG02647.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0040 a0001c0001t0048 a0001c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0023 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0081 a0001c0001t0003g0029 a0001c0001t0010g0175 a0001c0001t0014g0001 a0001c0001t0015g0001 a0001c0001t0016g0001 a0001c0001t0016g0186 a0001c0001t0016g0188 a0001c0001t0018g0001 a0001c0001t0018g0195 a0001c0001t0040g0187 a0001c0001t0048g0001 a0001c0002t0008g0215 a0001c0002t0008g0216	88	398	0.2211	-3	c.59+ others(18): Show c.59+1084_59+1086delTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS7_chr4_121819329_121875474	121828585	ACAT ACAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG03041.hp2 HG02630.hp1 HG02818.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054	3	374	0.0080	-3	c.178 others(18): Show c.1786+31_1786+33delATG	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	16/18			chr4	TogoVar
BBS7_chr4_121819329_121875474	121868684	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01975.hp1 others(10): Show HG00558.hp1 HG00673.hp1 HG01975.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 NA18948.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp2 NA18979.hp1 NA18984.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0001g0143 others(10): Show a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0004g0219 a0001c0001t0004g0274	13	374	0.0348	-3	c.37- others(16): Show c.37-641_37-639delTTT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/18			chr4	TogoVar
BBS7_chr4_121819329_121875474	121875027	CAAT CAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02622.hp1 NA19240.hp1 HG02055.hp2 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082	3	374	0.0080	-3	c.-47 others(14): Show c.-4717_-4715delATT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding		4554		chr4	TogoVar
BBS9_chr7_33124564_33611069	33146698	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(33): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19070.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0011c0024	a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0011c0024t0011	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 others(33): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0025t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0011c0024t0011g0024	36	268	0.1343	-3	c.112 others(18): Show c.112+352_112+354delAAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33149440	CAGA CAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01106.hp2 others(22): Show HG00140.hp2 HG00642.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 others(22): Show a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0002g0220 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0017g0226 a0001c0009t0001g0240 a0001c0009t0001g0241 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219	25	268	0.0933	-3	c.112 others(20): Show c.112+3079_112+3081delAAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33160035	CAAG CAAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG03516.hp1 HG02451.hp1 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0010g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0010g0117	3	268	0.0112	-3	c.328 others(20): Show c.328+4337_328+4339delAAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33162525	TCTC TCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(37): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19070.hp2 NA19090.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0011c0024	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0011c0024t0011	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 others(37): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0025t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0011c0024t0011g0024	40	268	0.1493	-3	c.328 others(20): Show c.328+6826_328+6828delCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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