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
ERICH5_chr8_98059568_98098609	98073485	TGTATATA others(40): Show TGTATATATATATATATATATATATATATATGTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	442	0.0023	-47	c.58+ others(62): Show c.58+8759_58+8805delGTATATATATATATATATATATATATATAT GTATATATATATATATA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073498	ATATATAT others(40): Show ATATATATATATATATATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01257.hp2 HG01358.hp1 others(23): Show HG01070.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18942.hp2 NA18955.hp2 NA18969.hp2 NA18973.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19074.hp2 NA19079.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0005 a0001c0001 a0001c0009 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0004c0005t0001	a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0330 others(23): Show a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0377 a0001c0001t0001g0383 a0001c0001t0001g0395 a0001c0001t0001g0412 a0001c0001t0001g0415 a0001c0001t0002g0101 a0001c0001t0002g0118 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0162 a0001c0001t0002g0314 a0001c0001t0002g0333 a0001c0001t0002g0375 a0001c0001t0002g0411 a0001c0001t0002g0416 a0001c0001t0002g0417 a0001c0009t0001g0218 a0004c0005t0001g0153	26	442	0.0588	-47	c.58+ others(62): Show c.58+8772_58+8818delTATATATATATATATATGTATATATATATA TATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ETFB_chr19_51340169_51371388	51349745	TGCATTTC others(40): Show TGCATTTCTTTTTTCTTTTTTTGAGACGGAGCCTCCCTCTGTTGCCAG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	436	0.0023	-47	c.438 others(62): Show c.438+537_438+583delCTGGCAACAGAGGGAGGCTCCGTCTCAAAA AAAGAAAAAAGAAATGC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	4/5			chr19	TogoVar
ETS1_chr11_128453765_128592558	128571472	CCAGCCTG others(40): Show CCAGCCTGGGCGACAGAGCAAGACTCCGTCAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG02071.hp2 others(24): Show HG00621.hp2 HG01109.hp1 HG02071.hp2 HG02165.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18961.hp2 NA18970.hp2 NA18990.hp1 NA19001.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19081.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0005t0003	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0003g0009 others(24): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0003g0009 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0006g0031 a0001c0001t0006g0033 a0001c0001t0014g0025 a0001c0001t0017g0032 a0001c0001t0022g0019 a0001c0001t0026g0020 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0003g0003 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0003g0012 a0001c0002t0003g0015 a0001c0002t0003g0018 a0001c0002t0004g0017 a0001c0002t0004g0028 a0001c0002t0007g0004 a0001c0002t0007g0024 a0001c0002t0007g0026 a0001c0002t0009g0029 a0001c0002t0013g0021 a0001c0005t0003g0117	27	286	0.0944	-47	c.69+ others(62): Show c.69+1543_69+1589delTTTTTTTTTTTTTTTTTTGACGGAGTCTTG CTCTGTCGCCCAGGCTG	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	2/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585077	AGAAAGAA others(40): Show AGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0161 a0001c0001t0019g0161	1	286	0.0035	-47	c.-15 others(64): Show c.-15+2364_-15+2410delCTTTCTTTCCTTCCTTCCTTCCTTTCTT TCTTTCCTTTCTTTCTTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EYA3_chr1_27965344_28093610	27968463	GCCTCAGG others(40): Show GCCTCAGGGGATGTGGATGTGGTGGGTGATGGTGCTGGGGAAGTGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0066 a0001c0001t0021g0066	1	392	0.0026	-47	c.59 others(58): Show c.5956_*6002delTTCCACTTCCCCAGCACCATCACCCACCACATCC ACATCCCCTGAGG	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding		1880		chr1	TogoVar
F10_chr13_113117799_113154529	113154159	CGGGGGAG others(40): Show CGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA19060.hp2 NA19067.hp2 others(1): Show NA18960.hp2 NA19060.hp2 NA19067.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0327	4	412	0.0097	-47	c.46 others(58): Show c.4643_*4689delGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGG GGGGGCGGGCCGT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4631		chr13	TogoVar
F8A2_chrX_155377095_155388801	155385567	AGGCTGTT others(40): Show AGGCTGTTGGGGTTCCCCTTCTCCCCATTGTGAGGTACTCCCAAAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0008 a0010c0006t0008	a0010c0006t0008g0000 a0010c0006t0008g0000	1	267	0.0038	-47	c.23 others(58): Show c.2338_*2384delGGCTGTTGGGGTTCCCCTTCTCCCCATTGTGAGG TACTCCCAAAAGG	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		1767		chrX	TogoVar
FAM107B_chr10_14513557_14779897	14629391	AATATATA others(40): Show AATATATATTATATATTTAATATATATAATATATATAATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	272	0.0037	-47	c.469 others(66): Show c.469+38196_469+38242delATAATATATATTATATATATTATATA TATTAAATATATAATATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM118B_chr11_126206782_126267968	126226100	AAGGCCAG others(40): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01261.hp1 others(13): Show HG00323.hp1 HG01099.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02735.hp2 HG03239.hp2 HG03669.hp1 HG03942.hp1 NA18953.hp1 NA18970.hp2 NA19055.hp2 NA19066.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0237 a0001c0001t0001g0317 others(13): Show a0001c0001t0001g0218 a0001c0001t0001g0237 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331	16	346	0.0462	-47	c.-76 others(64): Show c.-76-2750_-76-2704delGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM20B_chr1_179020894_179081567	179040664	TCCCCCCA others(40): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01361.hp1 others(8): Show HG01081.hp2 HG01167.hp2 HG01361.hp1 HG01516.hp1 HG02602.hp1 HG02738.hp1 NA18945.hp1 NA18977.hp1 NA19007.hp2 NA19056.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0246 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	11	408	0.0270	-47	c.-13 others(66): Show c.-133-2998_-133-2952delCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGCTGACCCCC	FAM20B	ENSG00000116199.12	transcript	ENST00000263733.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM210A_chr18_13658347_13731558	13675575	CATTTCCA others(40): Show CATTTCCAGTTTCCTGATTATTAACATTTCTGAGCCCTGGCCTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	326	0.0031	-47	c.474 others(64): Show c.474-3649_474-3603delTAAAGAGGCCAGGGCTCAGAAATGTTAA TAATCAGGAAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675978	GTAACTTC others(40): Show GTAACTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	326	0.0031	-47	c.474 others(64): Show c.474-4052_474-4006delGCGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAAAGAAGTTA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13676400	TTCTTTAT others(40): Show TTCTTTATTTCCAGTTTCCTGATTATTAACAGTCCTGAGCCCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0097 a0001c0001t0017g0097	1	326	0.0031	-47	c.474 others(64): Show c.474-4474_474-4428delGGTCAGGGGCTCAGGACTGTTAATAATC AGGAAACTGGAAATAAAGA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM3B_chr21_41311801_41362727	41313428	AATTTGAT others(40): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG03209.hp2 NA19056.hp2 HG02293.hp1 HG03209.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0004g0137 a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0004g0137	3	314	0.0096	-47	c.-34 others(58): Show c.-3451_-3405delATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FBRSL1_chr12_132485151_132590188	132546554	CGGGGGGA others(40): Show CGGGGGGACCCTAGGAGAGGGCTTGGCCACGGCTGAAAGGCCAGACCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG03130.hp2 others(1): Show HG02055.hp2 HG02109.hp1 HG03130.hp2 HG03471.hp2	a0000 a0002 a0015 a0000 a0002 a0015	a0000c0071 a0002c0004 a0015c0037 a0000c0071 a0002c0004 a0015c0037	a0000c0071t0018 a0002c0004t0008 a0015c0037t0018 a0000c0071t0018 a0002c0004t0008 a0015c0037t0018	a0000c0071t0018g0069 a0002c0004t0008g0071 a0015c0037t0018g0070 others(1): Show a0000c0071t0018g0069 a0002c0004t0008g0071 a0015c0037t0018g0070 a0015c0037t0018g0072	4	348	0.0115	-47	c.616 others(64): Show c.616-1402_616-1356delGGGGGGGACCCTAGGAGAGGGCTTGGCC ACGGCTGAAAGGCCAGACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXW11_chr5_171856549_172011638	172010687	TATATATA others(40): Show TATATATATATATATATATATACACACATACATATATATAATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02258.hp2 others(9): Show HG01109.hp1 HG01167.hp1 HG02258.hp2 HG02572.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0081 a0001c0002t0001g0012 a0001c0002t0001g0153 others(9): Show a0001c0001t0001g0081 a0001c0002t0001g0012 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0003g0052 a0001c0002t0003g0056 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0141 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157	12	158	0.0760	-47	c.-42 others(58): Show c.-4232_-4186delGTATATATTATATATATGTATGTGTGTATATATA TATATATATATAT	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding		4050		chr5	TogoVar
FCHSD1_chr5_141634302_141656418	141652879	CACTCTTT others(40): Show CACTCTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	-47	c.-15 others(58): Show c.-1558_-1512delCTCCAGCCTGGCAACAGAGCAAGACTCCATCTCA AAAAAAAAAGAGT	FCHSD1	ENSG00000197948.11	transcript	ENST00000435817.7	protein_coding		1462		chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659374	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	226	0.0044	-47	c.748 others(62): Show c.748-964_748-918delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD6_chr12_95071749_95222467	95148645	ATATATTA others(40): Show ATATATTATATATTATATAATACATAGCATATGTTATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0251 a0002c0002t0030g0251	1	384	0.0026	-47	c.268 others(66): Show c.2685+4119_2685+4165delATATATATAATATAACATATGCTATG TATTATATAATATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGF14_chr13_101705804_101921945	101850480	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATAGAATTATATATTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01928.hp2 HG01952.hp2 others(9): Show HG00280.hp2 HG01928.hp2 HG01952.hp2 HG02273.hp2 HG03579.hp1 NA18948.hp1 NA18964.hp2 NA18970.hp2 NA18988.hp1 NA18993.hp1 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0040 others(7): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0040 a0001c0001t0043 a0001c0001t0063 a0001c0001t0109 a0001c0001t0123 a0001c0001t0129 a0001c0001t0140 a0001c0001t0145	a0001c0001t0007g0081 a0001c0001t0021g0210 a0001c0001t0040g0188 others(9): Show a0001c0001t0007g0081 a0001c0001t0021g0210 a0001c0001t0040g0188 a0001c0001t0040g0189 a0001c0001t0043g0253 a0001c0001t0043g0254 a0001c0001t0063g0090 a0001c0001t0109g0199 a0001c0001t0123g0198 a0001c0001t0129g0243 a0001c0001t0140g0192 a0001c0001t0145g0174	12	266	0.0451	-47	c.408 others(66): Show c.408+18198_408+18244delGAATATATAATTCTATATATATATAT ATATATATATATATATATATA	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FGF14_chr13_101705804_101921945	101850505	TATATATA others(40): Show TATATATATAGAATTATATATTCTATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0134 a0001c0001t0103g0134	1	266	0.0038	-47	c.408 others(66): Show c.408+18173_408+18219delCTATATATATATATATATATATATAG AATATATAATTCTATATATAT	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FMN1_chr15_32760544_33199714	32778142	ATATATAA others(40): Show ATATATAATACATTTATTATATATTATATAATACATTTATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0089 a0003c0089	a0003c0089t0002 a0003c0089t0002	a0003c0089t0002g0096 a0003c0089t0002g0096	1	196	0.0051	-47	c.413 others(66): Show c.4131-1270_4131-1224delATATATAAATAAATGTATTATATAAT ATATAATAAATGTATTATATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FOXK2_chr17_82514732_82609602	82586354	GGAGGGGA others(40): Show GGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0197 a0001c0001t0005g0197	1	308	0.0033	-47	c.157 others(64): Show c.1576+156_1576+202delAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXQ1_chr6_1307098_1319758	1313988	CTTTGCAC others(40): Show CTTTGCACTTTGAATCCAGAGGAAGATGAATTTTTAAAATCTCCATCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0015 a0008c0009t0015	a0008c0009t0015g0000 a0008c0009t0015g0000	1	406	0.0025	-47	c.73 others(55): Show c.73_*119delTTTGCACTTTGAATCCAGAGGAAGATGAATTTTTAAA ATCTCCATCA	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding	1/1	73		chr6	TogoVar
FREM2_chr13_38682077_38892131	38813471	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0003 a0001c0070t0003	a0001c0070t0003g0095 a0001c0070t0003g0095	1	262	0.0038	-47	c.601 others(68): Show c.6019+28710_6019+28756delCCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FRMD3_chr9_83239622_83543401	83357226	TTATATAT others(40): Show TTATATATATATAATACATACATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03942.hp2 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0078 a0001c0001t0010g0047 a0001c0001t0010g0078	2	242	0.0083	-47	c.296 others(64): Show c.296-7516_296-7470delTATATATATATATATATATATATATATG TATGTATTATATATATATA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	14048862	GAATAGAA others(40): Show GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAAATAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	134	0.0075	-47	c.46- others(66): Show c.46-189997_46-189951delTTATTTTCTATTCTATTCTATTCTAT TCTATTCTATTCTATTCTATT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FSCN3_chr7_127588736_127607144	127604971	CTTGCTGC others(40): Show CTTGCTGCAGCTTCTATAATACATCAGCACTTGCTGCTTCACTTTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	420	0.0024	-47	c.33 others(58): Show c.3350_*3396delTTGCTGCAGCTTCTATAATACATCAGCACTTGCT GCTTCACTTTGCA	FSCN3	ENSG00000106328.10	transcript	ENST00000265825.6	protein_coding		2828		chr7	TogoVar
FSHR_chr2_48957157_49159515	49127848	TTCTTCTT others(40): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	350	0.0029	-47	c.152 others(66): Show c.152+26371_152+26417delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FSIP1_chr15_39595031_39787841	39747030	TCCTTCCC others(40): Show TCCTTCCCTCCTTCCATTCTTCCTTTCTTCCTTCCTCTTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(37): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02132.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG03017.hp1 HG04204.hp2 NA18947.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0001c0001t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0207 others(37): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0007g0235 a0001c0001t0007g0236 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0224 a0002c0002t0001g0228 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246	40	254	0.1575	-47	c.560 others(64): Show c.560-5177_560-5131delGAGGGAGGAAAGAGGAAGGAAGAAAGGA AGAATGGAAGGAGGGAAGG	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	5/11			chr15	TogoVar
FSTL5_chr4_161378897_162169000	161992860	AAATATAT others(40): Show AAATATATATATATATATATATATATATATATATATATGTGTGTGTAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	142	0.0070	-47	c.160 others(66): Show c.160+40718_160+40764delATACACACACATATATATATATATAT ATATATATATATATATATATT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
FTCD_chr21_46131779_46160579	46133639	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(91): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02970.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19005.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0006 a0002c0016 a0004c0008 a0005c0012 a0005c0017 a0006c0013 a0007c0036 a0008c0019 a0010c0026 a0011c0029 a0012c0028 a0013c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0002c0005t0001 a0002c0006t0004 a0002c0016t0001 a0004c0008t0001 a0005c0012t0001 a0005c0017t0001 a0006c0013t0001 a0007c0036t0001 a0008c0019t0001 a0010c0026t0001 a0011c0029t0001 a0012c0028t0001 a0013c0030t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0004g0006 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0223 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0022 a0001c0001t0007g0170 a0001c0002t0001g0005 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0076 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0197 a0001c0002t0004g0204 a0001c0002t0004g0207 a0001c0004t0001g0165 a0002c0005t0001g0011 a0002c0005t0001g0026 a0002c0005t0001g0028 a0002c0005t0001g0066 a0002c0005t0001g0067 a0002c0005t0001g0146 a0002c0005t0001g0194 a0002c0006t0004g0201 a0002c0006t0004g0202 a0002c0006t0004g0203 a0002c0016t0001g0025 a0004c0008t0001g0168 a0005c0012t0001g0027 a0005c0017t0001g0060 a0006c0013t0001g0004 a0007c0036t0001g0024 a0008c0019t0001g0057 a0010c0026t0001g0033 a0011c0029t0001g0090 a0012c0028t0001g0009 a0013c0030t0001g0172	94	230	0.4087	-47	c.33 others(58): Show c.3301_*3347delTAGAATAGGCTGAGCCCTGGTCCAGTGTGACTCG GGTGAGCTCATCC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		3139		chr21	TogoVar
FUT8_chr14_65407730_65749121	65692349	GGCGGGGG others(40): Show GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	374	0.0027	-47	c.835 others(66): Show c.835+22871_835+22917delCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65692461	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0099 a0001c0001t0014g0099	1	374	0.0027	-47	c.835 others(66): Show c.835+22987_835+23033delACCTCCCTCCCAGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUZ_chr19_49801866_49818292	49814746	CCTTACAA others(40): Show CCTTACAACTTTATTAAAATGTTAGTTACACAGGCATAAAAGAGGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0061 a0008c0011t0002g0061	1	410	0.0024	-47	c.-16 others(58): Show c.-1687_-1641delCCCCCTCTTTTATGCCTGTGTAACTAACATTTTA ATAAAGTTGTAAG	FUZ	ENSG00000010361.14	transcript	ENST00000313777.9	protein_coding		1455		chr19	TogoVar
FXYD1_chr19_35133824_35148109	35141261	TCTGGCCC others(40): Show TCTGGCCCCGCCTCTCCCTGGCCCCGCCTCTCCCTAGCCCCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(139): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18976.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052	142	408	0.3480	-47	c.169 others(61): Show c.169+66_169+112delCTCTCCCTGGCCCCGCCTCTCCCTAGCCCCC CTCTCCCTGGCCCCGC	FXYD1	ENSG00000266964.6	transcript	ENST00000351325.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
FXYD7_chr19_35138255_35159302	35141261	TCTGGCCC others(40): Show TCTGGCCCCGCCTCTCCCTGGCCCCGCCTCTCCCTAGCCCCCCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(146): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 others(128): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0087 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0067 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0330 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0347 a0001c0001t0002g0351 a0001c0001t0002g0354 a0001c0001t0002g0370 a0001c0001t0002g0385 a0001c0002t0002g0011 a0001c0002t0002g0383	149	444	0.3356	-47	c.-20 others(58): Show c.-2072_-2026delCTGGCCCCGCCTCTCCCTGGCCCCGCCTCTCCCT AGCCCCCCTCTCC	FXYD7	ENSG00000221946.8	transcript	ENST00000270310.7	protein_coding		1993		chr19	TogoVar
GABRB3_chr15_26538552_26778066	26554144	GTATATAT others(40): Show GTATATATATATATAAAGTATATATATATAAAGTATATATATATATAC	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	204	0.0049	-47	c.108 others(66): Show c.1081-6057_1081-6011delGTATATATATATATACTTTATATATA TATACTTTATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764160	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0089 a0001c0001t0023g0089	1	204	0.0049	-47	c.240 others(64): Show c.240+8195_240+8241delATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764162	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0092 a0001c0001t0012g0092	1	204	0.0049	-47	c.240 others(64): Show c.240+8193_240+8239delATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764164	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	204	0.0049	-47	c.240 others(64): Show c.240+8191_240+8237delATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764166	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	204	0.0049	-47	c.240 others(64): Show c.240+8189_240+8235delATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2016431	TCACAATG others(40): Show TCACAATGGGATGGAAGTTCGGAAATGGCAACAAACTAATTCTCAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	364	0.0028	-47	c.-29 others(58): Show c.-2992_-2946delCACAATGGGATGGAAGTTCGGAAATGGCAACAAA CTAATTCTCAAAA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		2913		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807564	ACCTTCCC others(40): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0249 a0003c0003t0001g0249	1	314	0.0032	-47	c.33 others(58): Show c.3399_*3445delCCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3278		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807603	ACCTTCCC others(40): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02165.hp1 HG02976.hp2 others(5): Show HG00280.hp2 HG02165.hp1 HG02976.hp2 HG03486.hp2 NA18906.hp1 NA18939.hp2 NA18948.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0164 a0001c0001t0001g0194 a0001c0001t0001g0205 others(5): Show a0001c0001t0001g0164 a0001c0001t0001g0194 a0001c0001t0001g0205 a0002c0002t0001g0093 a0002c0002t0001g0097 a0002c0002t0002g0020 a0002c0002t0002g0054 a0002c0002t0002g0151	8	314	0.0255	-47	c.34 others(58): Show c.3438_*3484delCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3317		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807884	ACCTTCCC others(40): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01261.hp1 others(12): Show HG00621.hp1 HG00639.hp2 HG01261.hp1 HG01952.hp1 HG01993.hp1 HG02451.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp2 NA18940.hp1 NA18947.hp1 NA18948.hp2 NA19060.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0009c0013t0002	a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0213 others(12): Show a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0213 a0001c0001t0001g0242 a0001c0001t0002g0001 a0001c0001t0002g0181 a0001c0009t0001g0055 a0001c0009t0001g0058 a0002c0002t0001g0006 a0002c0002t0001g0102 a0002c0002t0002g0153 a0002c0002t0002g0163 a0003c0003t0001g0234 a0003c0003t0001g0237 a0009c0013t0002g0109	15	314	0.0478	-47	c.37 others(58): Show c.3719_*3765delCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3598		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807927	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG02055.hp2 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0026 a0003c0011t0001g0118 a0001c0001t0001g0026 a0003c0011t0001g0118	2	314	0.0064	-47	c.37 others(58): Show c.3762_*3808delCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3641		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71336001	CTTCTTCC others(40): Show CTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCCTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0016	1	76	0.0132	-47	c.422 others(62): Show c.422+271_422+317delCTTCCTTCTTCTTCCTTCTTCTTTCTTCCT TTTTTTTTTTTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132232114	CCCTAGTG others(40): Show CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0015	1	183	0.0055	-47	c.107 others(68): Show c.1077+15749_1077+15795delACTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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