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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BDP1_chr5_71450651_71572820	71477617	A A	ATGTTTTC others(4): Show ATGTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0012 a0001c0026t0002g0012	1	325	0.0031	11	c.101 others(30): Show c.1015-6224_1015-6223insGTTTTCTTTTT		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71477617	A A	ATTTTTTC others(4): Show ATTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0004 a0006 others(9): Show a0001 a0004 a0006 a0007 a0008 a0009 a0023 a0031 a0032 a0033 a0034 a0040	a0001c0001 a0001c0021 a0001c0022 others(15): Show a0001c0001 a0001c0021 a0001c0022 a0001c0030 a0004c0004 a0006c0007 a0006c0024 a0006c0028 a0007c0006 a0008c0009 a0008c0048 a0009c0008 a0023c0046 a0031c0029 a0032c0025 a0033c0027 a0034c0023 a0040c0045	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(21): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0021t0002 a0001c0022t0002 a0001c0030t0002 a0004c0004t0004 a0004c0004t0010 a0006c0007t0002 a0006c0024t0002 a0006c0028t0021 a0007c0006t0002 a0008c0009t0002 a0008c0048t0002 a0009c0008t0002 a0009c0008t0007 a0023c0046t0002 a0031c0029t0004 a0032c0025t0002 a0033c0027t0002 a0034c0023t0002 a0040c0045t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(128): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0061 a0001c0001t0019g0016 a0001c0001t0020g0052 a0001c0001t0022g0013 a0001c0021t0002g0054 a0001c0022t0002g0081 a0001c0030t0002g0031 a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0004g0315 a0004c0004t0004g0316 a0004c0004t0004g0318 a0004c0004t0004g0319 a0004c0004t0004g0320 a0004c0004t0010g0321 a0004c0004t0010g0322 a0006c0007t0002g0006 a0006c0007t0002g0103 a0006c0007t0002g0105 a0006c0007t0002g0106 a0006c0007t0002g0107 a0006c0007t0002g0108 a0006c0007t0002g0109 a0006c0024t0002g0104 a0006c0028t0021g0008 a0007c0006t0002g0017 a0007c0006t0002g0042 a0007c0006t0002g0043 a0007c0006t0002g0044 a0007c0006t0002g0045 a0007c0006t0002g0046 a0007c0006t0002g0047 a0007c0006t0002g0079 a0008c0009t0002g0028 a0008c0009t0002g0053 a0008c0009t0002g0110 a0008c0009t0002g0111 a0008c0009t0002g0112 a0008c0009t0002g0113 a0008c0048t0002g0009 a0009c0008t0002g0007 a0009c0008t0002g0090 a0009c0008t0007g0095 a0009c0008t0007g0096 a0009c0008t0007g0097 a0009c0008t0007g0098 a0023c0046t0002g0027 a0031c0029t0004g0317 a0032c0025t0002g0066 a0033c0027t0002g0011 a0034c0023t0002g0069 a0040c0045t0002g0091	133	325	0.4092	11	c.101 others(30): Show c.1015-6218_1015-6208dupCTTTTTTTTTT		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66461613	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	298	0.0034	11	c.26- others(26): Show c.26-7988_26-7987insCACACACACAA		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEGAIN_chr14_100532147_100592417	100583692	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02071.hp2 HG00741.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0216 a0001c0002t0001g0145 a0001c0001t0001g0216 a0001c0002t0001g0145	2	326	0.0061	11	c.42+ others(26): Show c.42+3546_42+3556dupAAAAAAAAAAA		BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	1/6						chr14	TogoVar
BEND2_chrX_18157931_18225886	18195007	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	295	0.0034	11	c.118 others(28): Show c.1180+288_1180+289insGTGTGTGTGTG		BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	7/13						chrX	TogoVar
BEND3_chr6_107060182_107120515	107103659	A A	AAAAAAGA others(4): Show AAAAAAGAGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01981.hp1 others(4): Show HG01081.hp1 HG01243.hp1 HG01981.hp1 HG02273.hp1 NA18964.hp1 NA18965.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029	a0001c0001t0003g0172 a0001c0001t0005g0271 a0001c0002t0001g0270 others(4): Show a0001c0001t0003g0172 a0001c0001t0005g0271 a0001c0002t0001g0270 a0001c0002t0001g0278 a0001c0002t0001g0308 a0001c0002t0006g0310 a0001c0002t0029g0355	7	368	0.0190	11	c.-11 others(28): Show c.-11-4374_-11-4364dupGGCCTCTTTTT		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3						chr6	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(113): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA19011.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0004c0013 a0007c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0040 a0001c0001t0045 a0001c0001t0062 a0001c0001t0063 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029 a0001c0002t0060 a0001c0002t0061 a0001c0003t0057 a0001c0004t0016 a0001c0006t0027 a0001c0006t0049 a0004c0013t0033 a0007c0008t0004	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0017 others(111): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0254 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0298 a0001c0001t0002g0316 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0033 a0001c0001t0003g0064 a0001c0001t0003g0172 a0001c0001t0003g0206 a0001c0001t0003g0230 a0001c0001t0003g0243 a0001c0001t0003g0321 a0001c0001t0003g0331 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0240 a0001c0001t0004g0280 a0001c0001t0004g0282 a0001c0001t0004g0302 a0001c0001t0004g0309 a0001c0001t0004g0314 a0001c0001t0005g0018 a0001c0001t0005g0131 a0001c0001t0005g0253 a0001c0001t0005g0271 a0001c0001t0005g0286 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0313 a0001c0001t0005g0326 a0001c0001t0005g0330 a0001c0001t0005g0333 a0001c0001t0005g0338 a0001c0001t0005g0341 a0001c0001t0010g0124 a0001c0001t0010g0285 a0001c0001t0010g0337 a0001c0001t0011g0344 a0001c0001t0017g0143 a0001c0001t0018g0242 a0001c0001t0018g0266 a0001c0001t0018g0342 a0001c0001t0022g0178 a0001c0001t0024g0052 a0001c0001t0025g0300 a0001c0001t0026g0289 a0001c0001t0030g0213 a0001c0001t0040g0339 a0001c0001t0045g0288 a0001c0001t0062g0361 a0001c0001t0063g0362 a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0001g0209 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0301 a0001c0002t0001g0304 a0001c0002t0001g0308 a0001c0002t0001g0315 a0001c0002t0001g0319 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0332 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0006g0237 a0001c0002t0006g0275 a0001c0002t0006g0276 a0001c0002t0006g0296 a0001c0002t0029g0355 a0001c0002t0029g0356 a0001c0002t0060g0360 a0001c0002t0061g0359 a0001c0003t0057g0343 a0001c0004t0016g0303 a0001c0006t0027g0182 a0001c0006t0049g0181 a0004c0013t0033g0177 a0007c0008t0004g0340	116	368	0.3152	11	c.-12 others(28): Show c.-12+5637_-12+5647dupTTTTTTTTTTT		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3						chr6	TogoVar
BEND5_chr1_48722519_48781891	48762614	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	342	0.0029	11	c.227 others(28): Show c.227-1145_227-1144insCACACACACAC		BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5						chr1	TogoVar
BEST3_chr12_69648609_69704303	69686786	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02486.hp1 NA18522.hp2 HG01256.hp1 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0006 a0001c0001t0004 a0001c0006t0006	a0001c0001t0004g0042 a0001c0006t0006g0184 a0001c0006t0006g0237 a0001c0001t0004g0042 a0001c0006t0006g0184 a0001c0006t0006g0237	3	366	0.0082	11	c.481 others(28): Show c.481+6887_481+6888insCTTTTTTTTTT		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9						chr12	TogoVar
BEST4_chr1_44778585_44793170	44779363	C C	CTTTTTGT others(4): Show CTTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG02080.hp2 others(11): Show HG01123.hp2 HG01346.hp2 HG02080.hp2 HG03491.hp1 HG03492.hp2 NA18612.hp2 NA18948.hp2 NA18960.hp1 NA18965.hp1 NA18979.hp2 NA19057.hp1 NA19064.hp2 NA19078.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0011g0027	14	390	0.0359	11	c.48 others(22): Show c.4846_*4847insCAAAACAAAAA		BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding					4221		chr1	TogoVar
BFAR_chr16_14627951_14674236	14640487	G G	GAATCTAG others(4): Show GAATCTAGATTT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	317	0.0032	11	c.-73 others(28): Show c.-73-3786_-73-3776dupAATCTAGATTT		BFAR	ENSG00000103429.11	transcript	ENST00000261658.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
BFSP1_chr20_17488905_17536379	17533454	T T	TCAGCTGT others(4): Show TCAGCTGTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02258.hp1 others(7): Show HG01109.hp1 HG01167.hp1 HG02258.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0005t0004 a0001c0002t0001 a0001c0003t0001 a0001c0005t0004	a0001c0002t0001g0302 a0001c0003t0001g0300 a0001c0003t0001g0301 others(7): Show a0001c0002t0001g0302 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0005t0004g0293 a0001c0005t0004g0294 a0001c0005t0004g0295 a0001c0005t0004g0296 a0001c0005t0004g0297 a0001c0005t0004g0298 a0001c0005t0004g0299	10	396	0.0253	11	c.-21 others(22): Show c.-2136_-2126dupGAAGACAGCTG		BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding					2076		chr20	TogoVar
BFSP2_chr3_133395056_133480208	133425991	A A	AGGGAAGG others(4): Show AGGGAAGGGCAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02738.hp1 HG02273.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0104 a0002c0007t0001g0236 a0001c0001t0001g0104 a0002c0007t0001g0236	2	276	0.0073	11	c.490 others(30): Show c.490-21323_490-21322insAAGGGCAGGGG		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133466677	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01106.hp2 others(19): Show HG00423.hp2 HG00639.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02602.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA18990.hp1 NA19000.hp2 NA19030.hp2 NA19062.hp2 NA19074.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0005c0006t0001 a0001c0001t0001 a0001c0002t0001 a0005c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0029 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0002t0001g0226 a0001c0002t0001g0253 a0005c0006t0001g0264	22	276	0.0797	11	c.892 others(26): Show c.892-141_892-131dupAAAAAAAAAAA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHE22_chr8_64575365_64588627	64576422	C C	CTGTTATT others(4): Show CTGTTATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	11	c.-43 others(22): Show c.-4369_-4368insTGTTATTTTTT		BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding					3942		chr8	TogoVar
BHLHE23_chr20_63000927_63011964	63011867	A A	ATTTCCCT others(4): Show ATTTCCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	11	c.-50 others(22): Show c.-5094_-5093insGAGGAGGGAAA		BHLHE23	ENSG00000125533.6	transcript	ENST00000612929.2	protein_coding					4904		chr20	TogoVar
BHLHE40_chr3_4974437_4990323	4988355	T T	TGCGGGGG others(4): Show TGCGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	11	c.46 others(22): Show c.4663_*4664insGCGGGGGGGGG		BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding					3033		chr3	TogoVar
BHLHE41_chr12_26115030_26130037	26122665	A A	AAACAAAA others(4): Show AAACAAAAAAAC	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0039 a0009c0012t0001g0039	1	422	0.0024	11	c.849 others(18): Show c.849_850insGTTTTTTTGTT	p.Ser others(5): Show p.Ser284fs	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	5/5	1107/3743	849/1449	283/482			chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26129007	C C	CTGAAAGG others(4): Show CTGAAAGGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	11	c.-42 others(22): Show c.-4239_-4229dupTAATCCTTTCA		BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding					3971		chr12	TogoVar
BHMT2_chr5_79064767_79095069	79087277	T T	TACCAGCC others(4): Show TACCAGCCAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0105 a0004c0008t0003g0105	1	390	0.0026	11	c.101 others(30): Show c.1011-1216_1011-1215insACCAGCCAAAG		BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7						chr5	TogoVar
BICD1_chr12_32101847_32388633	32148142	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18969.hp1 HG02895.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0002 a0001c0001t0019 a0001c0002t0002	a0001c0001t0019g0191 a0001c0002t0002g0215 a0001c0001t0019g0191 a0001c0002t0002g0215	2	290	0.0069	11	c.213 others(30): Show c.213+40608_213+40609insAAAAAAAAAAA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32166138	A A	ATTTATTT others(4): Show ATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00597.hp1 others(72): Show HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18968.hp1 NA18968.hp2 NA18975.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0044 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0020 a0001c0002t0021 a0001c0002t0027 a0001c0002t0029 a0001c0003t0033 a0001c0003t0042 a0001c0003t0052 a0001c0005t0009 a0001c0005t0012 a0001c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0258 others(72): Show a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0258 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0147 a0001c0001t0004g0032 a0001c0001t0004g0132 a0001c0001t0004g0142 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0007g0027 a0001c0001t0007g0139 a0001c0001t0007g0146 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0123 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0086 a0001c0001t0010g0103 a0001c0001t0015g0025 a0001c0001t0016g0037 a0001c0001t0017g0092 a0001c0001t0022g0101 a0001c0001t0023g0096 a0001c0001t0030g0029 a0001c0001t0034g0128 a0001c0001t0036g0090 a0001c0001t0044g0180 a0001c0001t0056g0275 a0001c0001t0057g0245 a0001c0001t0058g0221 a0001c0001t0060g0244 a0001c0002t0001g0077 a0001c0002t0001g0190 a0001c0002t0002g0053 a0001c0002t0002g0063 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0131 a0001c0002t0002g0212 a0001c0002t0002g0241 a0001c0002t0002g0282 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0005g0110 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0020g0052 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0027g0120 a0001c0002t0029g0109 a0001c0003t0033g0122 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0009t0001g0056	75	290	0.2586	11	c.214 others(30): Show c.214-50105_214-50095dupATTTATTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32182278	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG04184.hp2 NA18994.hp2 HG01517.hp2 HG04184.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0005 a0001c0001t0007 a0001c0002t0002 a0001c0002t0005	a0001c0001t0007g0107 a0001c0002t0002g0241 a0001c0002t0005g0124 a0001c0001t0007g0107 a0001c0002t0002g0241 a0001c0002t0005g0124	3	290	0.0103	11	c.214 others(30): Show c.214-33957_214-33947dupTTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32225621	G G	GTTTTTGT others(4): Show GTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02300.hp2 HG02451.hp2 others(3): Show HG01081.hp1 HG02300.hp2 HG02451.hp2 HG02895.hp1 HG03831.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002 a0001c0005t0009	a0001c0001t0003g0229 a0001c0001t0006g0034 a0001c0001t0011g0044 others(3): Show a0001c0001t0003g0229 a0001c0001t0006g0034 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0002t0002g0241 a0001c0005t0009g0270	6	290	0.0207	11	c.426 others(28): Show c.426+9167_426+9168insGTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32225621	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19011.hp2 HG00558.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0123 a0001c0002t0002g0207 a0001c0001t0008g0123 a0001c0002t0002g0207	2	290	0.0069	11	c.426 others(28): Show c.426+9172_426+9182dupTTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32233322	T T	TTAAAAAA others(4): Show TTAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01175.hp2 others(16): Show HG01106.hp2 HG01175.hp1 HG01175.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02148.hp2 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02976.hp2 HG03927.hp2 NA18906.hp1 NA18966.hp1 NA19057.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0003g0230 others(16): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0003g0230 a0001c0001t0004g0032 a0001c0001t0006g0105 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0015g0020 a0001c0001t0017g0092 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0018g0268 a0001c0002t0002g0064 a0001c0002t0002g0076 a0001c0002t0005g0104 a0001c0002t0005g0290 a0001c0002t0007g0022 a0001c0002t0007g0150 a0001c0003t0002g0240	19	290	0.0655	11	c.426 others(30): Show c.426+16863_426+16864insTAAAAAAAAAA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9						chr12	TogoVar
BICD1_chr12_32101847_32388633	32386203	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(55): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG01106.hp1 HG01243.hp1 HG01358.hp2 HG01517.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG03017.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19011.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0020 a0001c0002t0002 others(10): Show a0001c0001t0002 a0001c0001t0020 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0051 a0001c0003t0002 a0001c0003t0052 a0001c0007t0050	a0001c0001t0002g0199 a0001c0001t0020g0217 a0001c0002t0002g0043 others(55): Show a0001c0001t0002g0199 a0001c0001t0020g0217 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0207 a0001c0002t0002g0215 a0001c0002t0002g0228 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0282 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0248 a0001c0002t0005g0290 a0001c0002t0020g0052 a0001c0002t0020g0214 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0026g0013 a0001c0002t0027g0120 a0001c0002t0051g0266 a0001c0003t0002g0240 a0001c0003t0052g0286 a0001c0007t0050g0186	58	290	0.2000	11	c.85 others(22): Show c.8576_*8577insTTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding					2571		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	360	0.0028	11	c.240 others(28): Show c.240+7182_240+7192dupTTTTTTTTTTT		BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6						chr9	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp1 others(41): Show HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 NA18939.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18993.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0009t0002	a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0135 others(39): Show a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0224 a0001c0001t0007g0003 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0010g0201 a0001c0001t0012g0138 a0001c0001t0021g0256 a0001c0001t0022g0182 a0001c0001t0026g0286 a0001c0009t0002g0148	44	296	0.1487	11	c.646 others(30): Show c.646-28332_646-28322dupTTTTTTTTTTT		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120057818	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	296	0.0034	11	c.646 others(28): Show c.646-3872_646-3862dupTTTTTTTTTTT		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793296	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01071.hp1 others(2): Show HG00438.hp2 HG00639.hp1 HG01071.hp1 HG02622.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0268 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0268 a0001c0001t0003g0137 a0001c0001t0004g0210	5	270	0.0185	11	c.-10 others(32): Show c.-102+11214_-102+11224dupTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	270	0.0037	11	c.225 others(28): Show c.2254+379_2254+380insAAATATATATA		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp1 HG02647.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0007 a0001c0001t0007 a0002c0003t0007	a0001c0001t0007g0037 a0002c0003t0007g0039 a0001c0001t0007g0037 a0002c0003t0007g0039	2	270	0.0074	11	c.225 others(28): Show c.2254+378_2254+379insTATATATATAT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12						chr6	TogoVar
BICRA_chr19_47604134_47708277	47661213	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00639.hp1 others(64): Show HG00438.hp1 HG00558.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01258.hp2 HG01884.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18944.hp1 NA18954.hp2 NA18975.hp2 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0013	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0013 a0001c0015 a0001c0017 a0002c0002 a0002c0005 a0002c0019 a0002c0036 a0002c0039 a0003c0004 a0003c0033 a0005c0024 a0006c0027 a0007c0023 a0013c0041	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0006 a0001c0006t0002 a0001c0006t0005 a0001c0008t0006 a0001c0013t0006 a0001c0015t0001 a0001c0017t0006 a0002c0002t0002 a0002c0005t0002 a0002c0005t0005 a0002c0019t0001 a0002c0036t0002 a0002c0039t0004 a0003c0004t0004 a0003c0033t0004 a0005c0024t0001 a0006c0027t0013 a0007c0023t0001 a0013c0041t0004	a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 others(64): Show a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0078 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0003t0003g0113 a0001c0003t0006g0100 a0001c0003t0006g0302 a0001c0006t0002g0243 a0001c0006t0005g0247 a0001c0006t0005g0251 a0001c0006t0005g0252 a0001c0008t0006g0239 a0001c0008t0006g0304 a0001c0013t0006g0026 a0001c0013t0006g0192 a0001c0015t0001g0232 a0001c0017t0006g0308 a0002c0002t0002g0110 a0002c0002t0002g0143 a0002c0002t0002g0155 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0253 a0002c0002t0002g0266 a0002c0005t0002g0300 a0002c0005t0005g0189 a0002c0005t0005g0291 a0002c0019t0001g0269 a0002c0036t0002g0062 a0002c0039t0004g0209 a0003c0004t0004g0050 a0003c0033t0004g0021 a0005c0024t0001g0187 a0006c0027t0013g0203 a0007c0023t0001g0211 a0013c0041t0004g0298	67	312	0.2147	11	c.-10 others(30): Show c.-107-9224_-107-9214dupAAAAAAAAAAA		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN1_chr2_127043032_127112154	127100999	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG03516.hp2 others(1): Show HG02572.hp2 HG02615.hp1 HG03516.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0191 a0001c0001t0001g0195	4	344	0.0116	11	c.84+ others(26): Show c.84+5860_84+5861insCCCCCCCCCCC		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18						chr2	TogoVar
BIN3_chr8_22615418_22674121	22649812	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	386	0.0026	11	c.9-5 others(24): Show c.9-5010_9-5009insGTGTGTGTGTG		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8						chr8	TogoVar
BIRC6_chr2_32352023_32623878	32369945	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0049 a0002c0024t0002g0049	1	274	0.0037	11	c.326 others(28): Show c.326-7642_326-7641insAAAAAAAAATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18942.hp2 NA18954.hp2 others(4): Show HG02015.hp2 NA18942.hp2 NA18954.hp2 NA18955.hp1 NA18999.hp1 NA19062.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0005t0001g0223 a0001c0005t0001g0228	7	274	0.0256	11	c.324 others(28): Show c.3248+113_3248+123dupTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32444031	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0181 a0009c0029t0002g0181	1	274	0.0037	11	c.433 others(28): Show c.4336+451_4336+461dupTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	20/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0058 a0001c0003t0003g0058	1	274	0.0037	11	c.475 others(30): Show c.4754-2921_4754-2920insATATATATTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0123 a0003c0017t0003g0123	1	274	0.0037	11	c.475 others(30): Show c.4754-2921_4754-2920insATTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0137 a0001c0003t0003g0137	1	274	0.0037	11	c.475 others(30): Show c.4754-2907_4754-2897dupTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460273	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	274	0.0037	11	c.475 others(30): Show c.4754-2921_4754-2920insATATATATATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73						chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01884.hp1 HG01891.hp1	a0001 a0002 a0001 a0002	a0001c0037 a0002c0002 a0001c0037 a0002c0002	a0001c0037t0001 a0002c0002t0003 a0001c0037t0001 a0002c0002t0003	a0001c0037t0001g0038 a0002c0002t0003g0044 a0001c0037t0001g0038 a0002c0002t0003g0044	2	274	0.0073	11	c.740 others(28): Show c.7409-672_7409-662dupTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG02559.hp1 HG02976.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0097 a0001c0015t0001g0105 a0001c0015t0001g0097 a0001c0015t0001g0105	2	274	0.0073	11	c.998 others(26): Show c.9980+34_9980+44dupTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32521365	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0011 a0001c0023t0001g0011	1	274	0.0037	11	c.116 others(32): Show c.11623+2437_11623+2447dupAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	57/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19085.hp2 HG01071.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0002 a0002c0002t0001 a0002c0004t0002	a0002c0002t0001g0210 a0002c0004t0002g0066 a0002c0002t0001g0210 a0002c0004t0002g0066	2	274	0.0073	11	c.131 others(32): Show c.13144+3743_13144+3753dupAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102796293	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0022 a0001c0002t0013g0022	2	404	0.0050	11	c.-34 others(22): Show c.-3435_-3434insAAAAAAAAAAA		BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding					2825		chr13	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04199.hp2 HG00735.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0248 a0001c0001t0003g0233 a0001c0001t0003g0248	2	404	0.0050	11	c.103 others(30): Show c.1035-1131_1035-1121dupTTTTTTTTTTT		BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
BLACAT1_chr1_205429886_205461045	205459547	T T	TTTATTCA others(4): Show TTTATTCAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	11	c.-36 others(22): Show c.-3668_-3667insTCCCTGAATAA		BLACAT1	ENSG00000281406.2	transcript	ENST00000629624.3	protein_coding					3503		chr1	TogoVar

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