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	159616393	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	216	0.0046	0	c.-19 others(4): Show c.-197A>G	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/37	137674		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159616405	A A	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18950.hp2 NA19079.hp1 NA18950.hp2 NA19079.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0003 a0007c0010t0003 a0001c0001t0003 a0007c0010t0003	a0001c0001t0003g0001 a0007c0010t0003g0002 a0001c0001t0003g0001 a0007c0010t0003g0002	2	216	0.0093	0	c.-20 others(4): Show c.-209T>A	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/37	137686		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159616439	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(128): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0019 a0021	a0001c0001 a0001c0008 a0001c0020 others(21): Show a0001c0001 a0001c0008 a0001c0020 a0001c0029 a0002c0002 a0002c0007 a0002c0018 a0003c0003 a0003c0013 a0004c0004 a0004c0009 a0005c0005 a0006c0006 a0007c0010 a0008c0011 a0010c0030 a0011c0031 a0013c0022 a0014c0024 a0015c0025 a0016c0026 a0017c0027 a0019c0017 a0021c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0008t0001 a0001c0020t0001 a0001c0029t0001 a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 a0002c0018t0001 a0003c0003t0001 a0003c0013t0006 a0004c0004t0001 a0004c0009t0001 a0005c0005t0001 a0006c0006t0001 a0007c0010t0001 a0007c0010t0003 a0008c0011t0001 a0010c0030t0001 a0011c0031t0001 a0013c0022t0001 a0014c0024t0001 a0015c0025t0001 a0016c0026t0001 a0017c0027t0001 a0019c0017t0001 a0021c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(128): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0003g0001 a0001c0001t0004g0003 a0001c0001t0004g0110 a0001c0001t0005g0130 a0001c0001t0007g0086 a0001c0001t0008g0131 a0001c0008t0001g0035 a0001c0008t0001g0060 a0001c0020t0001g0046 a0001c0029t0001g0112 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0005g0129 a0002c0007t0001g0045 a0002c0018t0001g0066 a0003c0003t0001g0009 a0003c0003t0001g0014 a0003c0003t0001g0031 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0082 a0003c0013t0006g0058 a0004c0004t0001g0005 a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 a0005c0005t0001g0034 a0005c0005t0001g0042 a0005c0005t0001g0069 a0005c0005t0001g0094 a0006c0006t0001g0007 a0006c0006t0001g0081 a0007c0010t0001g0114 a0007c0010t0001g0115 a0007c0010t0003g0002 a0008c0011t0001g0052 a0008c0011t0001g0080 a0010c0030t0001g0039 a0011c0031t0001g0108 a0013c0022t0001g0027 a0014c0024t0001g0088 a0015c0025t0001g0116 a0016c0026t0001g0075 a0017c0027t0001g0106 a0019c0017t0001g0006 a0021c0012t0001g0073	131	216	0.6065	0	c.-24 others(4): Show c.-243G>A	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/37	137720		chr2	TogoVar
BBC3_chr19_47215824_47236199	47231012	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0066 a0001c0001t0021g0066	1	412	0.0024	0	c.-99 others(3): Show c.-99G>A	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/4	2581		chr19	TogoVar
BBC3_chr19_47215824_47236199	47231022	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0065 a0001c0001t0020g0065	1	412	0.0024	0	c.-10 others(4): Show c.-109C>G	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/4	2591		chr19	TogoVar
BBC3_chr19_47215824_47236199	47231023	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0065 a0001c0001t0020g0065	1	412	0.0024	0	c.-11 others(4): Show c.-110G>C	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/4	2592		chr19	TogoVar
BBC3_chr19_47215824_47236199	47231101	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0223 a0001c0001t0033g0223	1	412	0.0024	0	c.-18 others(4): Show c.-188C>G	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/4	2670		chr19	TogoVar
BBC3_chr19_47215824_47236199	47231146	T T	TGCCGCC TGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(50): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG01433.hp2 HG01943.hp2 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG03491.hp2 HG03669.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0034	a0001c0001t0006g0018 a0001c0001t0006g0021 a0001c0001t0006g0022 others(29): Show a0001c0001t0006g0018 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0007g0019 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0224 a0001c0001t0007g0225 a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0009g0020 a0001c0001t0009g0060 a0001c0001t0009g0226 a0001c0001t0009g0234 a0001c0001t0019g0061 a0001c0001t0034g0227	53	412	0.1286	6	c.-23 others(15): Show c.-239_-234dupGGCGGC	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/4	2716		chr19	TogoVar
BBC3_chr19_47215824_47236199	47231146	T T	TGCCGCCG others(2): Show TGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp2 NA18943.hp1 NA18997.hp1 others(1): Show HG00558.hp2 NA18943.hp1 NA18997.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0023 a0001c0001t0011g0023	4	412	0.0097	9	c.-24 others(18): Show c.-242_-234dupGGCGGCGGC	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/4	2716		chr19	TogoVar
BBIP1_chr10_110893730_110924180	110919127	A A	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	418	0.0024	0	c.-63 others(3): Show c.-63T>G	BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding	1/4	970		chr10	TogoVar
BBIP1_chr10_110893730_110924180	110919164	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0044 a0001c0001t0011g0044	1	418	0.0024	0	c.-10 others(4): Show c.-100G>A	BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding	1/4	1007		chr10	TogoVar
BBLN_chr9_128155265_128168924	128160297	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	2	396	0.0051	0	c.-11 others(4): Show c.-111C>G	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding	1/2	111		chr9	TogoVar
BBLN_chr9_128155265_128168924	128160311	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	396	0.0025	0	c.-97 others(3): Show c.-97T>G	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding	1/2	97		chr9	TogoVar
BBOF1_chr14_74014349_74071092	74019399	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0016 a0006c0005t0016	a0006c0005t0016g0381 a0006c0005t0016g0381	1	386	0.0026	0	c.-80 others(3): Show c.-80C>T	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	1/12	80		chr14	TogoVar
BBOX1_chr11_27035815_27132809	27040941	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02572.hp1 others(5): Show HG01109.hp2 HG02257.hp1 HG02572.hp1 HG02809.hp2 HG02922.hp1 HG03486.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0006g0257 others(5): Show a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0006g0257 a0001c0002t0006g0258 a0001c0002t0006g0260 a0001c0002t0006g0261 a0001c0002t0006g0268 a0001c0002t0006g0291	8	318	0.0252	0	c.-38 others(4): Show c.-389T>G	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	1/9	14490		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27041353	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0284 a0001c0001t0011g0284	1	318	0.0031	0	c.-16 others(4): Show c.-164G>A	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/9	14078		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27041355	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0009 a0001c0002t0015 a0001c0001t0009 a0001c0002t0009 a0001c0002t0015	a0001c0001t0009g0176 a0001c0002t0009g0175 a0001c0002t0015g0174 a0001c0001t0009g0176 a0001c0002t0009g0175 a0001c0002t0015g0174	3	318	0.0094	0	c.-16 others(4): Show c.-162C>T	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/9	14076		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27041374	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0073 a0001c0001t0014g0073	1	318	0.0031	0	c.-14 others(4): Show c.-143C>T	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/9	14057		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27041428	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00735.hp2 others(42): Show HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18950.hp1 NA18970.hp1 NA18981.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 a0001c0004t0003 a0001c0005t0003 a0001c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0118 a0001c0001t0003g0238 others(37): Show a0001c0001t0003g0001 a0001c0001t0003g0118 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0259 a0001c0001t0003g0262 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0006g0257 a0001c0002t0006g0258 a0001c0002t0006g0260 a0001c0002t0006g0261 a0001c0002t0006g0268 a0001c0002t0006g0291 a0001c0004t0003g0240 a0001c0005t0003g0239 a0001c0005t0003g0263 a0001c0005t0003g0264 a0001c0005t0003g0267 a0001c0005t0003g0282 a0001c0006t0003g0119 a0001c0006t0003g0277 a0001c0006t0003g0278	45	318	0.1415	0	c.-89 others(3): Show c.-89T>C	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/9	14003		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27055415	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01981.hp1 HG02148.hp2 HG01981.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0008g0170 a0001c0001t0008g0171	2	318	0.0063	0	c.-16 others(3): Show c.-16C>A	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/9	16		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27055430	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(50): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01123.hp1 HG01346.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02300.hp2 HG02735.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 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 NA19009.hp2 NA19058.hp2 NA19068.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(47): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0008g0170 a0001c0001t0008g0171	53	318	0.1667	0	c.-1C others(2): Show c.-1C>T	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/9	1		chr11	TogoVar
BBS10_chr12_76339474_76353415	76348375	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	416	0.0024	0	c.-17 others(3): Show c.-17G>A	BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding	1/2	17		chr12	TogoVar
BBS12_chr4_122727704_122749939	122732771	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00735.hp1 others(36): Show HG00099.hp1 HG00642.hp1 HG00735.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03704.hp2 HG04184.hp2 NA19030.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0006 a0003c0003 a0006c0009 others(1): Show a0001c0006 a0003c0003 a0006c0009 a0009c0011	a0001c0006t0004 a0003c0003t0003 a0006c0009t0004 others(1): Show a0001c0006t0004 a0003c0003t0003 a0006c0009t0004 a0009c0011t0003	a0001c0006t0004g0012 a0001c0006t0004g0044 a0001c0006t0004g0090 others(18): Show a0001c0006t0004g0012 a0001c0006t0004g0044 a0001c0006t0004g0090 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0039 a0003c0003t0003g0042 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0074 a0003c0003t0003g0079 a0003c0003t0003g0084 a0006c0009t0004g0021 a0009c0011t0003g0081	39	364	0.1071	0	c.-12 others(4): Show c.-124G>A	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/2	9122		chr4	TogoVar
BBS12_chr4_122727704_122749939	122732834	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0006 a0009c0011t0006	a0009c0011t0006g0116 a0009c0011t0006g0116	1	364	0.0028	0	c.-61 others(3): Show c.-61G>C	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/2	9059		chr4	TogoVar
BBS2_chr16_56479385_56525024	56519902	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(45): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01978.hp1 HG02083.hp2 HG02135.hp1 HG02258.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18964.hp1 NA18969.hp2 NA18979.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 a0002c0002t0002 a0003c0003t0003 a0004c0004t0002 a0004c0004t0005	a0001c0001t0002g0043 a0001c0001t0003g0280 a0001c0001t0003g0281 others(40): Show a0001c0001t0002g0043 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0007t0003g0279 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0274 a0003c0003t0003g0275 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0278 a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 a0004c0004t0002g0064 a0004c0004t0002g0066 a0004c0004t0002g0067 a0004c0004t0005g0065	48	398	0.1206	0	c.-40 others(3): Show c.-40T>C	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	1/17	40		chr16	TogoVar
BBS2_chr16_56479385_56525024	56519999	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0003 a0001c0007t0003 a0003c0003t0003 a0001c0001t0003 a0001c0007t0003 a0003c0003t0003	a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0007t0003g0279 others(9): Show a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0007t0003g0279 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0274 a0003c0003t0003g0275 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0278	14	398	0.0352	0	c.-13 others(4): Show c.-137C>G	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	1/17	137		chr16	TogoVar
BBS4_chr15_72681207_72743473	72686211	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG01358.hp2 others(2): Show HG00733.hp2 HG01099.hp1 HG01358.hp2 HG02486.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0155 a0002c0002t0004g0201 a0002c0002t0004g0243 others(2): Show a0002c0002t0004g0155 a0002c0002t0004g0201 a0002c0002t0004g0243 a0002c0002t0004g0255 a0002c0002t0004g0295	5	398	0.0126	0	c.-17 others(3): Show c.-17C>T	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/16	17		chr15	TogoVar
BBS4_chr15_72681207_72743473	72686214	T T	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG01255.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0144 a0001c0001t0005g0038 a0001c0001t0005g0144	2	398	0.0050	0	c.-14 others(3): Show c.-14T>A	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/16	14		chr15	TogoVar
BBS5_chr2_169474494_169511655	169479514	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(365): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.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 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 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 NA18943.hp1 NA18943.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 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0005 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0002t0008 a0001c0002t0012 a0001c0002t0023 a0001c0002t0034 a0001c0003t0020 a0001c0003t0029 a0001c0004t0019 a0001c0007t0046 a0002c0005t0002 a0003c0008t0002 a0004c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(237): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0157 a0001c0001t0005g0013 a0001c0001t0005g0030 a0001c0001t0005g0050 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0072 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0007g0016 a0001c0001t0007g0039 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0170 a0001c0001t0009g0012 a0001c0001t0009g0027 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0010g0026 a0001c0001t0010g0056 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0063 a0001c0001t0010g0175 a0001c0001t0011g0008 a0001c0001t0011g0094 a0001c0001t0011g0104 a0001c0001t0013g0013 a0001c0001t0013g0071 a0001c0001t0013g0074 a0001c0001t0014g0001 a0001c0001t0014g0151 a0001c0001t0014g0164 a0001c0001t0014g0167 a0001c0001t0014g0202 a0001c0001t0015g0001 a0001c0001t0015g0005 a0001c0001t0015g0017 a0001c0001t0016g0001 a0001c0001t0016g0162 a0001c0001t0016g0186 a0001c0001t0016g0188 a0001c0001t0017g0049 a0001c0001t0017g0246 a0001c0001t0018g0001 a0001c0001t0018g0195 a0001c0001t0021g0237 a0001c0001t0021g0238 a0001c0001t0022g0030 a0001c0001t0022g0075 a0001c0001t0024g0002 a0001c0001t0024g0021 a0001c0001t0025g0016 a0001c0001t0025g0171 a0001c0001t0026g0004 a0001c0001t0026g0130 a0001c0001t0027g0036 a0001c0001t0028g0073 a0001c0001t0030g0115 a0001c0001t0031g0129 a0001c0001t0032g0146 a0001c0001t0033g0084 a0001c0001t0035g0139 a0001c0001t0036g0014 a0001c0001t0037g0136 a0001c0001t0038g0112 a0001c0001t0039g0206 a0001c0001t0040g0187 a0001c0001t0041g0108 a0001c0001t0042g0166 a0001c0001t0043g0133 a0001c0001t0044g0006 a0001c0001t0045g0161 a0001c0001t0047g0055 a0001c0001t0048g0001 a0001c0002t0008g0045 a0001c0002t0008g0046 a0001c0002t0008g0211 a0001c0002t0008g0212 a0001c0002t0008g0213 a0001c0002t0008g0214 a0001c0002t0008g0215 a0001c0002t0008g0216 a0001c0002t0012g0047 a0001c0002t0012g0239 a0001c0002t0012g0240 a0001c0002t0012g0245 a0001c0002t0023g0217 a0001c0002t0023g0218 a0001c0002t0034g0045 a0001c0003t0020g0109 a0001c0003t0020g0110 a0001c0003t0020g0111 a0001c0003t0029g0208 a0001c0004t0019g0020 a0001c0007t0046g0210 a0002c0005t0002g0006 a0002c0005t0002g0103 a0003c0008t0002g0082 a0004c0006t0003g0002	368	398	0.9246	0	c.-40 others(3): Show c.-40G>C	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	1/12	40		chr2	TogoVar
BBS5_chr2_169474494_169511655	169479532	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG03486.hp2 HG02486.hp2 HG02630.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0109 a0001c0003t0020g0110 a0001c0003t0020g0111 a0001c0003t0020g0109 a0001c0003t0020g0110 a0001c0003t0020g0111	3	398	0.0075	0	c.-22 others(3): Show c.-22C>T	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	1/12	22		chr2	TogoVar
BBS5_chr2_169474494_169511655	169479552	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0036 a0001c0001t0027g0036	1	398	0.0025	0	c.-2C others(2): Show c.-2C>A	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	1/12	2		chr2	TogoVar
BBS7_chr4_121819329_121875474	121870435	A A	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0210 a0001c0001t0011g0210	1	374	0.0027	0	c.-12 others(4): Show c.-122T>A	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/19	122		chr4	TogoVar
BBS7_chr4_121819329_121875474	121870446	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00597.hp1 others(109): Show HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02257.hp2 HG02300.hp1 HG02572.hp1 HG02647.hp1 HG02735.hp1 HG02738.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(75): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0004g0005 a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0274 a0001c0001t0007g0211 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0011g0210 a0001c0001t0012g0226 a0001c0001t0013g0265 a0001c0003t0002g0048	112	374	0.2995	0	c.-13 others(4): Show c.-133C>G	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/19	133		chr4	TogoVar
BBS9_chr7_33124564_33611069	33129748	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp2 NA21309.hp2 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0013g0041 a0001c0001t0013g0042	2	268	0.0075	0	c.-30 others(4): Show c.-305T>G	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/23	16505		chr7	TogoVar
BBS9_chr7_33124564_33611069	33129794	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01175.hp1 others(6): Show HG00140.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012	a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 others(6): Show a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0012g0212 a0001c0001t0012g0213	9	268	0.0336	0	c.-25 others(4): Show c.-259G>A	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/23	16459		chr7	TogoVar
BBS9_chr7_33124564_33611069	33129825	T T	TGCTGCCT others(6): Show TGCTGCCTGGTGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0012g0212 a0001c0001t0012g0213	2	268	0.0075	13	c.-22 others(22): Show c.-224_-212dupGCCTGGTGGGGCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/23	16411	INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107523001	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02809.hp1 others(3): Show HG02145.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023	a0001c0001t0010g0036 a0001c0001t0010g0100 a0001c0001t0010g0103 others(3): Show a0001c0001t0010g0036 a0001c0001t0010g0100 a0001c0001t0010g0103 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0023g0102	6	222	0.0270	0	c.-26 others(4): Show c.-262G>C	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	1/18	187460		chr3	TogoVar
BCAP29_chr7_107575246_107625478	107580251	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0252 a0001c0001t0012g0252	1	398	0.0025	0	c.-65 others(3): Show c.-65G>A	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	1/8	522		chr7	TogoVar
BCAP31_chrX_153695492_153729387	153724375	A A	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(263): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 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 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0086 a0001c0001t0004g0150 a0001c0001t0005g0137 a0001c0001t0006g0068 a0001c0003t0001g0143 a0002c0002t0001g0135 a0003c0004t0001g0037	266	267	0.9963	0	c.-86 others(3): Show c.-86T>G	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding	1/8	1131		chrX	TogoVar
BCAR1_chr16_75223181_75256624	75251512	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02300.hp2 HG02683.hp1 others(3): Show HG02145.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp2 HG03688.hp2 NA20905.hp2	a0002 a0006 a0002 a0006	a0002c0015 a0006c0011 a0002c0015 a0006c0011	a0002c0015t0006 a0002c0015t0027 a0006c0011t0006 a0002c0015t0006 a0002c0015t0027 a0006c0011t0006	a0002c0015t0006g0284 a0002c0015t0027g0285 a0006c0011t0006g0009 a0002c0015t0006g0284 a0002c0015t0027g0285 a0006c0011t0006g0009	6	392	0.0153	0	c.-30 others(3): Show c.-30A>G	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/7	30		chr16	TogoVar
BCAR1_chr16_75223181_75256624	75251609	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0045 a0002c0002t0018g0045	1	392	0.0026	0	c.-12 others(4): Show c.-127G>A	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/7	127		chr16	TogoVar
BCAR3_chr1_93556741_93686837	93681618	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp2 HG03540.hp1 HG02451.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0006 a0001c0001t0003g0007	2	202	0.0099	0	c.-32 others(3): Show c.-32C>A	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/12	6688		chr1	TogoVar
BCAR3_chr1_93556741_93686837	93681667	GCGCGGCC others(19): Show GCGCGGCCGGCCTCGCACCGCCCGCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0186 a0004c0005t0006g0186	1	202	0.0050	-26	c.-10 others(34): Show c.-107_-82delGCGCGGGCGGTGCGAGGCCGGCCGCG	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/12	6738		chr1	TogoVar
BCAR3_chr1_93556741_93686837	93681743	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02572.hp2 others(10): Show HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005 a0005c0010	a0001c0001t0002 a0002c0003t0002 a0003c0004t0002 others(3): Show a0001c0001t0002 a0002c0003t0002 a0003c0004t0002 a0004c0005t0002 a0004c0005t0006 a0005c0010t0002	a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 others(10): Show a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0198 a0003c0004t0002g0188 a0004c0005t0002g0194 a0004c0005t0006g0186 a0005c0010t0002g0187	13	202	0.0644	0	c.-15 others(4): Show c.-157C>T	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/12	6813		chr1	TogoVar
BCAR3_chr1_93556741_93686837	93681792	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	202	0.0050	0	c.-20 others(4): Show c.-206G>A	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/12	6862		chr1	TogoVar
BCAS1_chr20_53938541_54075594	54058720	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(47): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01081.hp1 HG01192.hp1 HG01516.hp1 HG02027.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18941.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0013 a0020	a0001c0001 a0001c0007 a0003c0003 others(4): Show a0001c0001 a0001c0007 a0003c0003 a0003c0030 a0006c0006 a0013c0013 a0020c0023	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(15): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0049 a0001c0001t0051 a0001c0007t0004 a0001c0007t0014 a0001c0007t0015 a0001c0007t0048 a0001c0007t0050 a0003c0003t0004 a0003c0003t0014 a0003c0030t0004 a0006c0006t0018 a0006c0006t0029 a0013c0013t0004 a0013c0013t0047 a0020c0023t0036	a0001c0001t0004g0122 a0001c0001t0004g0316 a0001c0001t0004g0317 others(47): Show a0001c0001t0004g0122 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0330 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0351 a0001c0001t0014g0322 a0001c0001t0015g0326 a0001c0001t0015g0333 a0001c0001t0015g0343 a0001c0001t0015g0345 a0001c0001t0015g0356 a0001c0001t0049g0338 a0001c0001t0051g0315 a0001c0007t0004g0313 a0001c0007t0004g0314 a0001c0007t0004g0331 a0001c0007t0004g0332 a0001c0007t0004g0337 a0001c0007t0004g0342 a0001c0007t0014g0328 a0001c0007t0014g0329 a0001c0007t0014g0341 a0001c0007t0015g0319 a0001c0007t0048g0299 a0001c0007t0050g0321 a0003c0003t0004g0167 a0003c0003t0004g0206 a0003c0003t0014g0312 a0003c0003t0014g0340 a0003c0030t0004g0300 a0006c0006t0018g0143 a0006c0006t0018g0301 a0006c0006t0018g0302 a0006c0006t0018g0320 a0006c0006t0018g0323 a0006c0006t0029g0144 a0006c0006t0029g0334 a0006c0006t0029g0347 a0013c0013t0004g0339 a0013c0013t0047g0350 a0020c0023t0036g0327 a0020c0023t0036g0352	50	364	0.1374	0	c.-2C others(2): Show c.-2C>A	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	2/13	2		chr20	TogoVar
BCAS1_chr20_53938541_54075594	54070488	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(62): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00738.hp2 HG01099.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02258.hp1 HG02683.hp1 HG02965.hp2 HG02970.hp1 HG03540.hp1 HG03654.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19090.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0009 a0012 a0015 a0018 a0023 a0028	a0001c0001 a0001c0007 a0001c0017 others(11): Show a0001c0001 a0001c0007 a0001c0017 a0001c0034 a0002c0002 a0003c0003 a0003c0028 a0006c0006 a0009c0009 a0012c0031 a0015c0015 a0018c0020 a0023c0029 a0028c0040	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(26): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0007t0007 a0001c0017t0043 a0001c0034t0013 a0002c0002t0035 a0002c0002t0042 a0003c0003t0005 a0003c0003t0007 a0003c0003t0011 a0003c0003t0013 a0003c0003t0028 a0003c0003t0044 a0003c0003t0045 a0003c0028t0013 a0006c0006t0026 a0006c0006t0027 a0009c0009t0011 a0009c0009t0035 a0012c0031t0005 a0015c0015t0027 a0015c0015t0046 a0018c0020t0005 a0023c0029t0005 a0028c0040t0028	a0001c0001t0005g0019 a0001c0001t0007g0015 a0001c0001t0007g0020 others(61): Show a0001c0001t0005g0019 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0050 a0001c0001t0011g0025 a0001c0001t0034g0009 a0001c0001t0034g0024 a0001c0001t0040g0008 a0001c0001t0041g0052 a0001c0007t0007g0054 a0001c0017t0043g0068 a0001c0034t0013g0010 a0002c0002t0035g0007 a0002c0002t0042g0053 a0003c0003t0005g0013 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0033 a0003c0003t0005g0036 a0003c0003t0005g0039 a0003c0003t0005g0044 a0003c0003t0005g0047 a0003c0003t0005g0051 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0005g0060 a0003c0003t0005g0061 a0003c0003t0005g0065 a0003c0003t0005g0067 a0003c0003t0007g0001 a0003c0003t0007g0035 a0003c0003t0011g0055 a0003c0003t0013g0017 a0003c0003t0013g0045 a0003c0003t0013g0048 a0003c0003t0013g0049 a0003c0003t0028g0016 a0003c0003t0028g0032 a0003c0003t0044g0041 a0003c0003t0045g0011 a0003c0028t0013g0018 a0006c0006t0026g0042 a0006c0006t0026g0059 a0006c0006t0026g0064 a0006c0006t0027g0023 a0009c0009t0011g0014 a0009c0009t0011g0031 a0009c0009t0011g0038 a0009c0009t0011g0040 a0009c0009t0011g0046 a0009c0009t0035g0034 a0012c0031t0005g0043 a0015c0015t0027g0037 a0015c0015t0027g0058 a0015c0015t0046g0066 a0018c0020t0005g0062 a0018c0020t0005g0063 a0023c0029t0005g0012 a0028c0040t0028g0006	65	364	0.1786	0	c.-61 others(3): Show c.-61G>A	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	1/13	11770		chr20	TogoVar
BCAS1_chr20_53938541_54075594	54070518	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02647.hp1 NA21309.hp1 HG02486.hp1 HG02647.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0039 a0001c0001t0068 a0002c0002t0039 a0001c0001t0039 a0001c0001t0068 a0002c0002t0039	a0001c0001t0039g0358 a0001c0001t0068g0359 a0002c0002t0039g0357 a0001c0001t0039g0358 a0001c0001t0068g0359 a0002c0002t0039g0357	3	364	0.0082	0	c.-91 others(3): Show c.-91G>T	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	1/13	11800		chr20	TogoVar
BCAS2_chr1_114562557_114586615	114581604	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	414	0.0024	0	c.-13 others(3): Show c.-13T>C	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	1/7	13		chr1	TogoVar
BCAT1_chr12_24805024_24954101	24948968	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0297 a0001c0001t0129g0297	1	322	0.0031	0	c.-36 others(3): Show c.-36C>G	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/11	36		chr12	TogoVar

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