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
FBLN1_chr22_45497883_45606135	45554977	A A	AGGACCCG others(25): Show AGGACCCGTCCCCGTCTCCACCGCAGGAGGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG03540.hp1 others(2): Show HG01884.hp1 HG03139.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0022	a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 others(2): Show a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0005t0001 a0001c0022t0001	a0001c0001t0007g0103 a0001c0001t0009g0279 a0001c0002t0001g0203 others(2): Show a0001c0001t0007g0103 a0001c0001t0009g0279 a0001c0002t0001g0203 a0001c0005t0001g0087 a0001c0022t0001g0325	5	346	0.0145	32	c.169 others(51): Show c.1697+4383_1697+4384insGCAGGAGGTTGGGACCCGTCCCCGTC TCCACC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45554999	A A	ACAGGAAG others(25): Show ACAGGAAGTTAGGACCCGTCCCCGTCTCCACCG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	346	0.0029	32	c.169 others(51): Show c.1697+4390_1697+4421dupAGTTAGGACCCGTCCCCGTCTCCACC GCAGGA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45554999	A A	ACAGGAGG others(25): Show ACAGGAGGTTAGGACCCGTCCCCGTCTCCACCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0329 a0001c0002t0003g0329	1	346	0.0029	32	c.169 others(51): Show c.1697+4389_1697+4390insGGTTAGGACCCGTCCCCGTCTCCACC GCAGGA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555005	A A	AGTTAGGA others(25): Show AGTTAGGACCCGTCCCCGTCTCCACCGCAGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(143): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0001c0018 a0001c0024 a0004c0007 a0006c0011 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0006t0001 a0001c0013t0001 a0001c0018t0001 a0001c0024t0001 a0004c0007t0001 a0004c0007t0002 a0006c0011t0002 a0007c0017t0001	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 others(143): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0330 a0001c0001t0001g0342 a0001c0001t0002g0059 a0001c0001t0002g0222 a0001c0001t0002g0270 a0001c0001t0002g0308 a0001c0001t0002g0318 a0001c0001t0003g0149 a0001c0001t0003g0209 a0001c0001t0005g0226 a0001c0001t0011g0015 a0001c0001t0012g0199 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0001g0109 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0224 a0001c0002t0001g0242 a0001c0002t0001g0252 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0290 a0001c0002t0001g0315 a0001c0002t0002g0017 a0001c0002t0002g0304 a0001c0002t0002g0317 a0001c0002t0003g0266 a0001c0002t0010g0260 a0001c0006t0001g0313 a0001c0013t0001g0070 a0001c0018t0001g0300 a0001c0024t0001g0191 a0004c0007t0001g0083 a0004c0007t0002g0084 a0006c0011t0002g0190 a0007c0017t0001g0046	146	346	0.4220	32	c.169 others(51): Show c.1697+4458_1697+4489dupAGGACCCGTCCCCGTCTCCACCGCAG GAGGTT	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555005	A A	AGTTAGGA others(25): Show AGTTAGGACCTGTCCCCGTCTCCACCGCAGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG00280.hp2 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0154 a0001c0002t0001g0129 a0001c0002t0001g0154	2	346	0.0058	32	c.169 others(51): Show c.1697+4399_1697+4400insTGTCCCCGTCTCCACCGCAGGAGGTT AGGACC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555009	A A	AGGACCCG others(25): Show AGGACCCGTCCCCGTCTCCACCGCAGGAGGTTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG03453.hp2 HG02622.hp1 HG02809.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0016 a0003c0027 a0001c0002 a0001c0016 a0003c0027	a0001c0002t0001 a0001c0016t0001 a0003c0027t0001 a0001c0002t0001 a0001c0016t0001 a0003c0027t0001	a0001c0002t0001g0202 a0001c0016t0001g0196 a0003c0027t0001g0005 a0001c0002t0001g0202 a0001c0016t0001g0196 a0003c0027t0001g0005	3	346	0.0087	32	c.169 others(51): Show c.1697+4425_1697+4426insGGGACCCGTCCCCGTCTCCACCGCAG GAGGTT	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555073	A A	AGGACCCG others(25): Show AGGACCCGTCCCCGTCTCCACCGCAGGAGGTTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	346	0.0029	32	c.169 others(51): Show c.1697+4480_1697+4511dupGCAGGAGGTTGGGACCCGTCCCCGTC TCCACC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555106	G G	GGACCCGT others(25): Show GGACCCGTCCCCGTCTCCACCGCAGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0060 a0001c0001t0011g0060	1	346	0.0029	32	c.169 others(51): Show c.1697+4511_1697+4512insGCAGGAGGTTATGACCCGTCCCCGTC TCCACC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555127	C C	CCAGGAGG others(25): Show CCAGGAGGTTGGGACCCGTCCGTGTCTCCACCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0113 a0001c0002t0001g0080 a0001c0001t0001g0113 a0001c0002t0001g0080	2	346	0.0058	32	c.169 others(51): Show c.1697+4532_1697+4563dupCGTGTCTCCACCGCAGGAGGTTGGGA CCCGTC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555248	C C	CATATATA others(25): Show CATATATATATATATATATATAAAATGGAATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG02630.hp2 others(3): Show HG01175.hp2 HG02109.hp1 HG02630.hp2 HG02723.hp2 HG03130.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0004g0086 others(3): Show a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0004g0086 a0001c0001t0004g0197 a0001c0004t0001g0316 a0002c0003t0001g0200	6	346	0.0173	32	c.169 others(51): Show c.1697+4650_1697+4651insTATAAAATGGAATATATATATATATA TATATA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN2_chr3_13544125_13643404	13612294	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0222 a0001c0004t0001g0222	1	312	0.0032	32	c.154 others(51): Show c.1549-1673_1549-1642dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13633954	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02040.hp2 HG02135.hp1 others(4): Show HG00733.hp2 HG02040.hp2 HG02135.hp1 HG03516.hp2 NA19057.hp1 NA19065.hp1 NA19081.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0006 a0001c0075 a0002c0001 others(2): Show a0001c0006 a0001c0075 a0002c0001 a0002c0002 a0012c0084	a0001c0006t0001 a0001c0075t0002 a0002c0001t0003 others(2): Show a0001c0006t0001 a0001c0075t0002 a0002c0001t0003 a0002c0002t0001 a0012c0084t0002	a0001c0006t0001g0168 a0001c0006t0001g0175 a0001c0075t0002g0224 others(4): Show a0001c0006t0001g0168 a0001c0006t0001g0175 a0001c0075t0002g0224 a0002c0001t0003g0087 a0002c0002t0001g0120 a0002c0002t0001g0208 a0012c0084t0002g0303	7	312	0.0224	32	c.321 others(51): Show c.3215-2481_3215-2450dupCACACACACACACACACACACACACA CACACA	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBN1_chr15_48403313_48650709	48435772	A A	ATATATGT others(25): Show ATATATGTGTGTATATATATGTATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp1 HG01517.hp2 others(18): Show HG00642.hp2 HG01361.hp1 HG01517.hp2 HG01981.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02630.hp1 HG02735.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03834.hp2 NA19081.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0002c0003t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 others(18): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0216 a0001c0001t0002g0288 a0001c0002t0001g0283 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0005t0002g0202 a0002c0003t0002g0148	21	288	0.0729	32	c.649 others(51): Show c.6497-1060_6497-1059insCACACATATATACATATATATACACA CATATA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	53/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48567998	T T	TAAGAAAG others(25): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0161 a0002c0003t0006g0161	1	288	0.0035	32	c.538 others(51): Show c.538+28253_538+28284dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0149 a0002c0003t0006g0149	1	288	0.0035	32	c.538 others(51): Show c.538+28233_538+28234insTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19005.hp2 HG01167.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0236 a0001c0002t0001g0020 a0001c0001t0001g0236 a0001c0002t0001g0020	2	288	0.0069	32	c.538 others(51): Show c.538+28233_538+28234insTCTTTCTTCTTTCTTTCTTTCTTTCT TTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02970.hp2 others(1): Show HG02559.hp1 HG02922.hp2 HG02970.hp2 HG03516.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0010c0020	a0001c0001t0002 a0001c0002t0008 a0001c0022t0013 others(1): Show a0001c0001t0002 a0001c0002t0008 a0001c0022t0013 a0010c0020t0001	a0001c0001t0002g0075 a0001c0002t0008g0285 a0001c0022t0013g0010 others(1): Show a0001c0001t0002g0075 a0001c0002t0008g0285 a0001c0022t0013g0010 a0010c0020t0001g0129	4	288	0.0139	32	c.538 others(51): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTCTTTCTTTCT TTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0010 a0001c0024t0010	a0001c0024t0010g0195 a0001c0024t0010g0195	1	288	0.0035	32	c.538 others(51): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(25): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0192 a0001c0010t0003g0192	1	288	0.0035	32	c.538 others(51): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTTCTTTCTTCT TTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128368425	T T	TATATATA others(25): Show TATATATATATACATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG02818.hp1 others(10): Show HG00741.hp1 HG01081.hp1 HG02818.hp1 HG02896.hp2 HG03017.hp2 HG03669.hp2 HG03834.hp1 NA18940.hp2 NA18960.hp2 NA18984.hp2 NA18993.hp1 NA19003.hp1 NA19057.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0001 a0003c0004 a0003c0010 others(4): Show a0001c0001 a0003c0004 a0003c0010 a0003c0065 a0005c0017 a0005c0019 a0011c0018	a0001c0001t0003 a0003c0004t0001 a0003c0004t0002 others(6): Show a0001c0001t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0010t0008 a0003c0065t0011 a0005c0017t0003 a0005c0019t0003 a0011c0018t0003	a0001c0001t0003g0011 a0003c0004t0001g0155 a0003c0004t0002g0090 others(10): Show a0001c0001t0003g0011 a0003c0004t0001g0155 a0003c0004t0002g0090 a0003c0004t0003g0001 a0003c0004t0003g0012 a0003c0010t0008g0085 a0003c0065t0011g0084 a0005c0017t0003g0008 a0005c0017t0003g0015 a0005c0019t0003g0006 a0005c0019t0003g0009 a0011c0018t0003g0007 a0011c0018t0003g0016	13	236	0.0551	32	c.224 others(49): Show c.2248+756_2248+757insGTGTATATATATGTATATATGTATATAT ATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	16/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(25): Show GTATATATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02258.hp2 HG02280.hp2 others(1): Show HG01361.hp2 HG02258.hp2 HG02280.hp2 HG03239.hp1	a0002 a0003 a0002 a0003	a0002c0023 a0003c0004 a0003c0010 a0002c0023 a0003c0004 a0003c0010	a0002c0023t0038 a0003c0004t0001 a0003c0010t0002 a0002c0023t0038 a0003c0004t0001 a0003c0010t0002	a0002c0023t0038g0235 a0003c0004t0001g0124 a0003c0004t0001g0129 others(1): Show a0002c0023t0038g0235 a0003c0004t0001g0124 a0003c0004t0001g0129 a0003c0010t0002g0099	4	236	0.0170	32	c.952 others(51): Show c.952+12086_952+12087insTATATATATATATATATACATATATA TATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539884	T T	TCATATAT others(25): Show TCATATATGATCTATCATATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03486.hp2 HG02970.hp2 HG03486.hp2	a0003 a0008 a0003 a0008	a0003c0004 a0008c0063 a0003c0004 a0008c0063	a0003c0004t0002 a0008c0063t0012 a0003c0004t0002 a0008c0063t0012	a0003c0004t0002g0103 a0008c0063t0012g0096 a0003c0004t0002g0103 a0008c0063t0012g0096	2	236	0.0085	32	c.-22 others(43): Show c.-2282_-2281insTGATATATGATATATATGATAGATCATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1640		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539892	G G	GATCTATC others(25): Show GATCTATCATATATATCATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0005 a0001c0011t0010 a0001c0003t0005 a0001c0011t0010	a0001c0003t0005g0100 a0001c0011t0010g0104 a0001c0003t0005g0100 a0001c0011t0010g0104	2	236	0.0085	32	c.-22 others(43): Show c.-2290_-2289insGATATATATGATATATGATATATATGATAGAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1648		chr5	TogoVar
FBN3_chr19_8060402_8154592	8086005	G G	GGGGACAG others(25): Show GGGGACAGGCAGTGGGAGGGACAGGCAGTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(39): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01516.hp1 HG01975.hp1 HG02055.hp2 HG02071.hp2 HG02148.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18948.hp1 NA18965.hp2 NA18971.hp2 NA18990.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19084.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0003 a0004 a0010 others(13): Show a0003 a0004 a0010 a0016 a0017 a0024 a0034 a0045 a0050 a0054 a0059 a0126 a0135 a0136 a0149 a0158	a0003c0006 a0003c0016 a0003c0052 others(17): Show a0003c0006 a0003c0016 a0003c0052 a0004c0076 a0010c0007 a0016c0018 a0016c0198 a0017c0023 a0024c0045 a0034c0046 a0045c0113 a0045c0206 a0050c0055 a0054c0058 a0059c0063 a0126c0116 a0135c0117 a0136c0112 a0149c0119 a0158c0062	a0003c0006t0001 a0003c0016t0001 a0003c0052t0001 others(17): Show a0003c0006t0001 a0003c0016t0001 a0003c0052t0001 a0004c0076t0001 a0010c0007t0001 a0016c0018t0001 a0016c0198t0001 a0017c0023t0001 a0024c0045t0001 a0034c0046t0001 a0045c0113t0001 a0045c0206t0001 a0050c0055t0004 a0054c0058t0001 a0059c0063t0001 a0126c0116t0001 a0135c0117t0002 a0136c0112t0001 a0149c0119t0001 a0158c0062t0001	a0003c0006t0001g0169 a0003c0006t0001g0177 a0003c0006t0001g0178 others(38): Show a0003c0006t0001g0169 a0003c0006t0001g0177 a0003c0006t0001g0178 a0003c0006t0001g0179 a0003c0006t0001g0180 a0003c0006t0001g0198 a0003c0006t0001g0206 a0003c0006t0001g0222 a0003c0006t0001g0226 a0003c0016t0001g0018 a0003c0016t0001g0267 a0003c0016t0001g0268 a0003c0016t0001g0289 a0003c0052t0001g0041 a0003c0052t0001g0042 a0004c0076t0001g0094 a0010c0007t0001g0001 a0010c0007t0001g0156 a0010c0007t0001g0158 a0010c0007t0001g0160 a0010c0007t0001g0161 a0010c0007t0001g0162 a0016c0018t0001g0182 a0016c0018t0001g0227 a0016c0018t0001g0228 a0016c0018t0001g0229 a0016c0198t0001g0221 a0017c0023t0001g0100 a0024c0045t0001g0102 a0024c0045t0001g0243 a0034c0046t0001g0300 a0045c0113t0001g0014 a0045c0206t0001g0225 a0050c0055t0004g0370 a0054c0058t0001g0047 a0059c0063t0001g0347 a0126c0116t0001g0044 a0135c0117t0002g0013 a0136c0112t0001g0091 a0149c0119t0001g0070 a0158c0062t0001g0301	42	380	0.1105	32	c.688 others(49): Show c.6880+163_6880+194dupTCCCACTGCCTGTCCCTCCCACTGCCTG TCCC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	55/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAAGGA others(25): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG02630.hp2 HG02976.hp2	a0123 a0125 a0123 a0125	a0123c0096 a0125c0095 a0123c0096 a0125c0095	a0123c0096t0001 a0125c0095t0001 a0123c0096t0001 a0125c0095t0001	a0123c0096t0001g0369 a0125c0095t0001g0333 a0123c0096t0001g0369 a0125c0095t0001g0333	2	380	0.0053	32	c.204 others(49): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0038 a0038	a0038c0184 a0038c0184	a0038c0184t0001 a0038c0184t0001	a0038c0184t0001g0205 a0038c0184t0001g0205	1	380	0.0026	32	c.204 others(49): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTCCTTCCTTCCTTC CTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0033 a0033	a0033c0044 a0033c0044	a0033c0044t0002 a0033c0044t0002	a0033c0044t0002g0234 a0033c0044t0002g0234	1	380	0.0026	32	c.204 others(49): Show c.2044+598_2044+599insTCCTTTCCCTTCCTTCCTTCCTTCCTTC CTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130639	A A	AGAAAGGA others(25): Show AGAAAGGAAGGAAGGAAGGAAGGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG00642.hp2 HG01192.hp2	a0007 a0007	a0007c0005 a0007c0050 a0007c0005 a0007c0050	a0007c0005t0001 a0007c0050t0001 a0007c0005t0001 a0007c0050t0001	a0007c0005t0001g0342 a0007c0050t0001g0098 a0007c0005t0001g0342 a0007c0050t0001g0098	2	380	0.0053	32	c.204 others(49): Show c.2044+595_2044+596insCTTTCCTTTCCCTTCCTTCCTTCCTTCC TTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132502829	C C	CCTCACCC others(25): Show CCTCACCCTCTCCTGTCCCCGCCCCCTCCTGTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0203 a0003c0001t0001g0203	1	348	0.0029	32	c.292 others(49): Show c.292-5300_292-5269dupCCTCCTGTTCTCACCCTCTCCTGTCCCC GCCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL13_chr7_102806189_103079796	102834032	T T	TGAAGGAA others(25): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	328	0.0031	32	c.199 others(51): Show c.1990-1090_1990-1059dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL17_chr5_107854035_108387098	107871057	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0082 a0001c0001t0055g0082	1	244	0.0041	32	c.196 others(51): Show c.1966-9198_1966-9197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	8/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0064 a0001c0004t0064	a0001c0004t0064g0241 a0001c0004t0064g0241	1	244	0.0041	32	c.182 others(53): Show c.1822+40260_1822+40261insAAAATATATATATATATATATATA TATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009196	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0240 a0001c0004t0031g0240	1	244	0.0041	32	c.182 others(53): Show c.1822+11728_1822+11729insGTATATATATATATATATATATAT ATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009198	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0082 a0001c0001t0055g0082	1	244	0.0041	32	c.182 others(53): Show c.1822+11726_1822+11727insGTATATATATATATATATATATAT ATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009292	T T	TATATATA others(25): Show TATATATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0233 a0002c0003t0010g0233	1	244	0.0041	32	c.182 others(53): Show c.1822+11632_1822+11633insCTATCTATCTATCTATCTATCTAT CTATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009296	T T	TATAGATA others(25): Show TATAGATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02559.hp2 HG02132.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0140 a0001c0001t0012g0053 a0001c0001t0004g0140 a0001c0001t0012g0053	2	244	0.0082	32	c.182 others(53): Show c.1822+11628_1822+11629insCTATCTATCTATCTATCTATCTAT CTATCTAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108112825	T T	TTTAACAA others(25): Show TTTAACAAATATTGTATTTTCATAAAACTTTAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00609.hp2 others(38): Show HG00323.hp2 HG00558.hp1 HG00609.hp2 HG00738.hp1 HG01069.hp2 HG01081.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02738.hp1 HG02922.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18945.hp1 NA18962.hp1 NA18965.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp1 NA18994.hp2 NA18995.hp2 NA19056.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0005c0007 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0054 a0001c0001t0057 a0001c0002t0006 a0001c0002t0029 a0001c0002t0060 a0001c0011t0004 a0001c0011t0020 a0005c0007t0003 a0007c0015t0006	a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0157 others(38): Show a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0183 a0001c0001t0002g0199 a0001c0001t0003g0115 a0001c0001t0003g0164 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0186 a0001c0001t0010g0155 a0001c0001t0010g0174 a0001c0001t0021g0166 a0001c0001t0021g0185 a0001c0001t0025g0167 a0001c0001t0026g0189 a0001c0001t0037g0064 a0001c0001t0054g0184 a0001c0001t0057g0160 a0001c0002t0006g0159 a0001c0002t0006g0161 a0001c0002t0006g0175 a0001c0002t0006g0182 a0001c0002t0029g0154 a0001c0002t0060g0217 a0001c0011t0004g0226 a0001c0011t0020g0227 a0005c0007t0003g0080 a0007c0015t0006g0180	41	244	0.1680	32	c.174 others(53): Show c.1745+73260_1745+73291dupGTAAAGTTTTATGAAAATACAATA TTTGTTAA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108126651	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0135 a0001c0001t0053g0135	1	244	0.0041	32	c.174 others(53): Show c.1745+59465_1745+59466insTAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108154642	C C	CATATGTA others(25): Show CATATGTATATACATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	244	0.0041	32	c.174 others(53): Show c.1745+31474_1745+31475insATATATATACACATATATATGTAT ATACATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108161161	G G	GATACATA others(25): Show GATACATACATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	244	0.0041	32	c.174 others(53): Show c.1745+24924_1745+24955dupGTATGTATGTATGTATGTATGTAT GTATGTAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108177932	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18946.hp1 NA21309.hp1 others(1): Show HG01081.hp1 NA18946.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0030	a0001c0001t0002g0098 a0001c0001t0003g0148 a0001c0001t0004g0131 others(1): Show a0001c0001t0002g0098 a0001c0001t0003g0148 a0001c0001t0004g0131 a0001c0004t0030g0238	4	244	0.0164	32	c.174 others(51): Show c.1745+8184_1745+8185insGTGTATATATATATATATATATATAT ATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108232782	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp2 NA18975.hp1 HG00621.hp1 HG02040.hp2 NA18975.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0008c0013t0005 a0001c0001t0001 a0001c0001t0002 a0008c0013t0005	a0001c0001t0001g0122 a0001c0001t0002g0208 a0008c0013t0005g0077 a0001c0001t0001g0122 a0001c0001t0002g0208 a0008c0013t0005g0077	3	244	0.0123	32	c.150 others(51): Show c.1507-8555_1507-8554insATATATATATATATATATATATATAT ATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	4/8			chr5	TogoVar
FBXL20_chr17_39247663_39406626	39249309	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0005 a0001c0001t0016g0005	1	230	0.0044	32	c.12 others(45): Show c.12150_*12151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXL20	ENSG00000108306.13	transcript	ENST00000264658.11	protein_coding		3353		chr17	TogoVar
FBXO11_chr2_47801920_47911498	47900835	T T	TACACACA others(25): Show TACACACACACGTGTATATATATACACGTATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	318	0.0031	32	c.232 others(49): Show c.232+4653_232+4654insGTATACGTGTATATATATACACGTGTGT GTGT	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FBXO17_chr19_38936401_38980742	38974029	T T	TATATACA others(25): Show TATATACATATATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG04228.hp1 HG03490.hp2 HG03492.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	398	0.0075	32	c.-18 others(49): Show c.-18+1556_-18+1557insGTATATATATGTGTATATATATATATGT ATAT	FBXO17	ENSG00000269190.6	transcript	ENST00000292852.9	protein_coding	1/5			chr19	TogoVar
FBXO17_chr19_38936401_38980742	38974031	T T	TATACATA others(25): Show TATACATATATATATATACACATATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp2 others(45): Show HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG01175.hp2 HG01433.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02523.hp2 HG02698.hp1 HG02738.hp2 HG03471.hp1 HG03486.hp2 HG03710.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19070.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0002t0002 a0001c0002t0006 a0001c0004t0011 a0004c0009t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0156 others(43): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0015g0183 a0001c0002t0002g0186 a0001c0002t0006g0177 a0001c0004t0011g0155 a0004c0009t0001g0187	48	398	0.1206	32	c.-18 others(49): Show c.-18+1554_-18+1555insGTGTATATATATGTGTATATATATATAT GTAT	FBXO17	ENSG00000269190.6	transcript	ENST00000292852.9	protein_coding	1/5			chr19	TogoVar
FBXO31_chr16_87321987_87388776	87365010	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01981.hp2 HG02273.hp2 others(10): Show HG01169.hp2 HG01981.hp2 HG02273.hp2 HG02451.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp2 NA18906.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0048 a0001c0001t0052 a0001c0008t0004	a0001c0001t0001g0150 a0001c0001t0001g0240 a0001c0001t0002g0312 others(10): Show a0001c0001t0001g0150 a0001c0001t0001g0240 a0001c0001t0002g0312 a0001c0001t0003g0211 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0267 a0001c0001t0004g0290 a0001c0001t0006g0361 a0001c0001t0007g0102 a0001c0001t0048g0054 a0001c0001t0052g0351 a0001c0008t0004g0369	13	376	0.0346	32	c.341 others(49): Show c.341-4645_341-4644insATATATATATATATATATATATATATAT ATAT	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55331719	A A	ATATATAT others(25): Show ATATATATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	334	0.0030	32	c.-10 others(51): Show c.-10-18655_-10-18654insGTATATATATATGTATATATATATGT ATATAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0182 a0001c0009t0001g0182	1	334	0.0030	32	c.-10 others(51): Show c.-10-12314_-10-12313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO39_chr17_6771215_6792646	6784953	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0157 a0001c0004t0001g0157	1	456	0.0022	32	c.102 others(51): Show c.1024-1826_1024-1825insGTGTGTATATATATATATATATATAT ATATAT	FBXO39	ENSG00000177294.7	transcript	ENST00000321535.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar

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