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
LRP2_chr2_169122109_169367534	169327070	GTCCGGGA others(42): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG03579.hp2 HG01884.hp2 HG03516.hp1 HG03579.hp2	a0003 a0003	a0003c0019 a0003c0028 a0003c0059 a0003c0019 a0003c0028 a0003c0059	a0003c0019t0004 a0003c0028t0004 a0003c0059t0013 a0003c0019t0004 a0003c0028t0004 a0003c0059t0013	a0003c0019t0004g0224 a0003c0028t0004g0227 a0003c0059t0013g0223 a0003c0019t0004g0224 a0003c0028t0004g0227 a0003c0059t0013g0223	3	250	0.0120	-49	c.80- others(64): Show c.80-6235_80-6187delTGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGA	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169327119	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp2 others(3): Show HG00323.hp2 HG01070.hp1 HG01071.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2	a0001 a0022 a0032 others(1): Show a0001 a0022 a0032 a0042	a0001c0017 a0001c0039 a0022c0085 others(2): Show a0001c0017 a0001c0039 a0022c0085 a0032c0038 a0042c0084	a0001c0017t0001 a0001c0039t0001 a0022c0085t0001 others(2): Show a0001c0017t0001 a0001c0039t0001 a0022c0085t0001 a0032c0038t0017 a0042c0084t0005	a0001c0017t0001g0021 a0001c0017t0001g0022 a0001c0039t0001g0020 others(3): Show a0001c0017t0001g0021 a0001c0017t0001g0022 a0001c0039t0001g0020 a0022c0085t0001g0092 a0032c0038t0017g0023 a0042c0084t0005g0081	6	250	0.0240	-49	c.80- others(64): Show c.80-6284_80-6236delCGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGA	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169327172	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG01257.hp1 others(16): Show HG00280.hp1 HG00544.hp1 HG01257.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02559.hp1 HG02895.hp1 HG03098.hp1 HG03139.hp2 NA18522.hp1 NA18906.hp1 NA18953.hp2 NA19043.hp2 NA19074.hp2 NA19079.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0009 a0016 a0017 a0038 a0040 a0070	a0001c0002 a0001c0018 a0001c0049 others(15): Show a0001c0002 a0001c0018 a0001c0049 a0003c0016 a0003c0019 a0003c0058 a0003c0061 a0003c0063 a0003c0098 a0004c0007 a0009c0052 a0009c0076 a0016c0037 a0016c0178 a0017c0096 a0038c0080 a0040c0086 a0070c0177	a0001c0002t0001 a0001c0018t0001 a0001c0049t0001 others(15): Show a0001c0002t0001 a0001c0018t0001 a0001c0049t0001 a0003c0016t0004 a0003c0019t0007 a0003c0058t0019 a0003c0061t0001 a0003c0063t0009 a0003c0098t0002 a0004c0007t0002 a0009c0052t0001 a0009c0076t0003 a0016c0037t0001 a0016c0178t0001 a0017c0096t0001 a0038c0080t0009 a0040c0086t0005 a0070c0177t0001	a0001c0002t0001g0019 a0001c0018t0001g0208 a0001c0049t0001g0207 others(16): Show a0001c0002t0001g0019 a0001c0018t0001g0208 a0001c0049t0001g0207 a0003c0016t0004g0126 a0003c0019t0007g0018 a0003c0058t0019g0210 a0003c0061t0001g0205 a0003c0063t0009g0204 a0003c0098t0002g0136 a0004c0007t0002g0025 a0009c0052t0001g0216 a0009c0076t0003g0211 a0016c0037t0001g0094 a0016c0037t0001g0115 a0016c0178t0001g0088 a0017c0096t0001g0031 a0038c0080t0009g0206 a0040c0086t0005g0148 a0070c0177t0001g0087	19	250	0.0760	-49	c.80- others(64): Show c.80-6337_80-6289delCGGATGGGGCGGCTGGCCAGGCGGGGGGCT GACCCCCCCACCTCCCTCC	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169327449	ACCCCGCC others(42): Show ACCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0057 a0057	a0057c0118 a0057c0118	a0057c0118t0003 a0057c0118t0003	a0057c0118t0003g0142 a0057c0118t0003g0142	1	250	0.0040	-49	c.80- others(64): Show c.80-6614_80-6566delGGCTGACCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCGGGG	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169327692	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGATCAGCACCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0002 a0009c0024t0002	a0009c0024t0002g0121 a0009c0024t0002g0121	1	250	0.0040	-49	c.80- others(64): Show c.80-6857_80-6809delCGGGGCGGCTGGCCGGGCGGGGTGCTGATC CCCCCACCTCCCTCCCGGA	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169327719	ACCCCGCC others(42): Show ACCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18961.hp1 NA18968.hp1 others(3): Show NA18941.hp2 NA18961.hp1 NA18968.hp1 NA18979.hp1 NA18982.hp1 NA19060.hp2	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0058	a0002c0130 a0002c0132 a0005c0131 others(3): Show a0002c0130 a0002c0132 a0005c0131 a0007c0015 a0007c0127 a0058c0128	a0002c0130t0003 a0002c0132t0003 a0005c0131t0003 others(3): Show a0002c0130t0003 a0002c0132t0003 a0005c0131t0003 a0007c0015t0002 a0007c0127t0001 a0058c0128t0002	a0002c0130t0003g0177 a0002c0132t0003g0176 a0005c0131t0003g0157 others(3): Show a0002c0130t0003g0177 a0002c0132t0003g0176 a0005c0131t0003g0157 a0007c0015t0002g0186 a0007c0127t0001g0178 a0058c0128t0002g0159	6	250	0.0240	-49	c.80- others(64): Show c.80-6884_80-6836delGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGG	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169328160	GGGCCAGC others(42): Show GGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCGCCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA19240.hp2 HG01257.hp2 HG01258.hp1 NA19240.hp2	a0022 a0035 a0042 a0022 a0035 a0042	a0022c0085 a0035c0081 a0042c0084 a0022c0085 a0035c0081 a0042c0084	a0022c0085t0001 a0035c0081t0010 a0042c0084t0005 a0022c0085t0001 a0035c0081t0010 a0042c0084t0005	a0022c0085t0001g0092 a0035c0081t0010g0245 a0042c0084t0005g0081 a0022c0085t0001g0092 a0035c0081t0010g0245 a0042c0084t0005g0081	3	250	0.0120	-49	c.80- others(64): Show c.80-7325_80-7277delGGGCGGGGCGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCC	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169328250	GCCCCGCC others(42): Show GCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01070.hp2 others(10): Show HG00323.hp1 HG00733.hp1 HG01070.hp2 HG01175.hp2 HG01258.hp2 HG02523.hp1 HG02698.hp1 HG03669.hp2 HG04115.hp1 NA18950.hp2 NA18983.hp2 NA19007.hp1 NA20905.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0006 a0008 a0009 a0011	a0001c0001 a0001c0105 a0003c0073 others(10): Show a0001c0001 a0001c0105 a0003c0073 a0003c0110 a0004c0021 a0004c0066 a0006c0004 a0006c0006 a0006c0022 a0008c0012 a0009c0024 a0009c0070 a0011c0055	a0001c0001t0001 a0001c0105t0001 a0003c0073t0001 others(10): Show a0001c0001t0001 a0001c0105t0001 a0003c0073t0001 a0003c0110t0005 a0004c0021t0005 a0004c0066t0003 a0006c0004t0003 a0006c0006t0003 a0006c0022t0006 a0008c0012t0002 a0009c0024t0003 a0009c0070t0001 a0011c0055t0001	a0001c0001t0001g0105 a0001c0105t0001g0244 a0003c0073t0001g0229 others(10): Show a0001c0001t0001g0105 a0001c0105t0001g0244 a0003c0073t0001g0229 a0003c0110t0005g0220 a0004c0021t0005g0240 a0004c0066t0003g0231 a0006c0004t0003g0103 a0006c0006t0003g0243 a0006c0022t0006g0218 a0008c0012t0002g0053 a0009c0024t0003g0238 a0009c0070t0001g0233 a0011c0055t0001g0219	13	250	0.0520	-49	c.80- others(64): Show c.80-7415_80-7367delGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGG	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP4_chr11_46851717_46923550	46898013	AACCTCCC others(42): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0011	1	276	0.0036	-49	c.796 others(64): Show c.796+496_796+544delGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGT	LRP4	ENSG00000134569.10	transcript	ENST00000378623.6	protein_coding	7/37			chr11	TogoVar
LRP4_chr11_46851717_46923550	46898039	GCCGGGCG others(42): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03710.hp2 HG01099.hp2 HG03710.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0205 a0006c0006t0001g0217 a0006c0006t0001g0205 a0006c0006t0001g0217	2	276	0.0073	-49	c.796 others(64): Show c.796+470_796+518delTCAGCCACCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGG	LRP4	ENSG00000134569.10	transcript	ENST00000378623.6	protein_coding	7/37			chr11	TogoVar
LRRC27_chr10_132327193_132386508	132352097	GATGCTGA others(42): Show GATGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp2 others(8): Show HG00140.hp1 HG00140.hp2 HG01070.hp2 HG01099.hp2 HG01346.hp1 HG02559.hp1 HG02572.hp1 HG04228.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 others(1): Show a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 a0002c0004t0022	a0002c0004t0010g0011 a0002c0004t0010g0013 a0002c0004t0010g0014 others(8): Show a0002c0004t0010g0011 a0002c0004t0010g0013 a0002c0004t0010g0014 a0002c0004t0010g0015 a0002c0004t0010g0016 a0002c0004t0010g0017 a0002c0004t0011g0008 a0002c0004t0011g0009 a0002c0004t0011g0010 a0002c0004t0016g0018 a0002c0004t0022g0012	11	290	0.0379	-49	c.107 others(66): Show c.1073+345_1073+393delATGCTGAGGCCTCCGTGTGGGGCAGGCG CTGAGGCCTCCGTGTGGGGCA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132374083	ATATGGCT others(42): Show ATATGGCTGCATGGTGAGGGGGTGCAGTGGCTCCAGGGACCTGCTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00735.hp1 others(30): Show HG00323.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01099.hp2 HG01243.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG06807.hp2 NA18959.hp1 NA18963.hp1 NA19030.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0002c0004 a0003c0008 a0008c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0003 a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 a0001c0013t0007 a0002c0004t0016 a0003c0008t0007 a0008c0012t0006	a0001c0001t0001g0173 a0001c0001t0003g0169 a0001c0001t0005g0053 others(29): Show a0001c0001t0001g0173 a0001c0001t0003g0169 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0009g0113 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0116 a0001c0001t0009g0203 a0001c0002t0003g0235 a0001c0003t0006g0080 a0001c0003t0006g0082 a0001c0003t0006g0087 a0001c0003t0006g0088 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0091 a0001c0003t0006g0098 a0001c0003t0006g0100 a0001c0003t0006g0101 a0001c0003t0007g0079 a0001c0003t0007g0085 a0001c0003t0007g0086 a0001c0003t0007g0092 a0001c0003t0007g0093 a0001c0003t0007g0094 a0001c0007t0007g0001 a0001c0013t0007g0081 a0002c0004t0016g0018 a0003c0008t0007g0083 a0003c0008t0007g0084 a0008c0012t0006g0099	33	290	0.1138	-49	c.141 others(66): Show c.1417-933_1417-885delTATGGCTGCATGGTGAGGGGGTGCAGTG GCTCCAGGGACCTGCTGTGAT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC4C_chr11_40109209_41464652	40665318	AAAAAAAA others(42): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	48	0.0208	-49	c.-40 others(70): Show c.-406-17089_-406-17041delATACATATATATATATATATATAT ATATATATATATATATATTTTTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	41304332	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02698.hp2 others(3): Show HG01074.hp1 HG02055.hp1 HG02698.hp2 HG02922.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0002g0012	6	48	0.1250	-49	c.-49 others(72): Show c.-496+155050_-496+155098delAGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGAC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	41304530	ATCAGCCC others(42): Show ATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02698.hp2 others(3): Show HG01074.hp1 HG02055.hp1 HG02698.hp2 HG02922.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0002g0012	6	48	0.1250	-49	c.-49 others(72): Show c.-496+154852_-496+154900delCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGA	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	41304726	ATCAGCCC others(42): Show ATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02809.hp2 HG03225.hp2 others(3): Show HG01074.hp2 HG02809.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0002g0036	6	48	0.1250	-49	c.-49 others(72): Show c.-496+154656_-496+154704delCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGA	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	41304757	TGGGAGGG others(42): Show TGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02922.hp2 others(2): Show HG01074.hp1 HG02055.hp1 HG02922.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0002t0001g0022 a0001c0002t0001g0029	5	48	0.1042	-49	c.-49 others(72): Show c.-496+154625_-496+154673delGGATGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	41304824	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	48	0.0208	-49	c.-49 others(72): Show c.-496+154558_-496+154606delTACCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGA	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC74A_chr14_76821408_76875304	76821633	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	408	0.0025	-49	c.-50 others(60): Show c.-5064_-5016delTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4774		chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76822072	CCAGCCGC others(42): Show CCAGCCGCCCTGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	408	0.0025	-49	c.-46 others(60): Show c.-4625_-4577delCAGCCGCCCTGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGA	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4335		chr14	TogoVar
LRRK2_chr12_40219997_40374285	40298781	ATATATAT others(42): Show ATATATATATATATATATAATATATGTATTATAATATATAATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG02976.hp2 HG03139.hp2	a0003 a0008 a0003 a0008	a0003c0016 a0008c0058 a0003c0016 a0008c0058	a0003c0016t0009 a0008c0058t0009 a0003c0016t0009 a0008c0058t0009	a0003c0016t0009g0131 a0008c0058t0009g0129 a0003c0016t0009g0131 a0008c0058t0009g0129	2	382	0.0052	-49	c.334 others(66): Show c.3347+298_3348-270delATATATATAATATATGTATTATAATATA TAATACATATATTATATATAT	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LTBP1_chr2_32941953_33404509	33103278	TGTATGCA others(42): Show TGTATGCACTGTATGCACAGTCTCTATGTTGTATACACAGTCTTTATGCC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0002 a0003c0021t0002	a0003c0021t0002g0101 a0003c0021t0002g0101	1	164	0.0061	-49	c.864 others(66): Show c.864-7296_864-7248delCTGTATGCACAGTCTCTATGTTGTATAC ACAGTCTTTATGCCGTATGCA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33276041	TTTCTGCT others(42): Show TTTCTGCTTCCTAGATTCACAGGCTCTTTGCCTCTTCCTTTCACTGGCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03017.hp2 NA19085.hp1 HG00558.hp2 HG03017.hp2 NA19085.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0042 a0001c0001 a0001c0005 a0007c0042	a0001c0001t0003 a0001c0005t0002 a0007c0042t0003 a0001c0001t0003 a0001c0005t0002 a0007c0042t0003	a0001c0001t0003g0147 a0001c0005t0002g0030 a0007c0042t0003g0143 a0001c0001t0003g0147 a0001c0005t0002g0030 a0007c0042t0003g0143	3	164	0.0183	-49	c.299 others(66): Show c.2992+121_2992+169delCTGCTTCCTAGATTCACAGGCTCTTTGC CTCTTCCTTTCACTGGCTCTT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	18/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LUC7L_chr16_183990_234449	186627	GGGGGAAC others(42): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	350	0.0029	-49	c.25 others(60): Show c.2522_*2570delGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2362		chr16	TogoVar
LY6L_chr8_143075630_143088486	143085209	CGTCCCAG others(42): Show CGTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCACGTTCGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG02717.hp1 others(1): Show HG01109.hp1 HG02630.hp1 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0004 a0001c0001t0004g0019 a0001c0001t0015g0014 a0001c0001t0004g0004 a0001c0001t0004g0019 a0001c0001t0015g0014	4	430	0.0093	-49	c.25 others(60): Show c.2559_*2607delGTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGA CCTGCCACGTTCGAT	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1724		chr8	TogoVar
MAD1L1_chr7_1810795_2237945	2113040	CGACGAGG others(42): Show CGACGAGGGGCAGAGCCTCCCTCAGCAAAGCGTCCCACTCAGGAAACGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02257.hp2 others(3): Show HG01243.hp1 HG01884.hp2 HG02257.hp2 HG02280.hp1 HG02976.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0004 a0001c0001t0001 a0001c0007t0004	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0007t0004g0078	6	264	0.0227	-49	c.107 others(70): Show c.1073+36063_1073+36111delCCCGTTTCCTGAGTGGGACGCTTT GCTGAGGGAGGCTCTGCCCCTCGTC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MAD2L1_chr4_120050623_120071848	120051669	AAACTTTG others(42): Show AAACTTTGACATCATTCTCTTATTTCTTGAGAAGAGTAAGCTTGACTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0013 a0001c0002t0010g0013	1	382	0.0026	-49	c.84 others(60): Show c.8400_*8448delGGGAGTCAAGCTTACTCTTCTCAAGAAATAAGAG AATGATGTCAAAGTT	MAD2L1	ENSG00000164109.14	transcript	ENST00000296509.11	protein_coding		3953		chr4	TogoVar
MAGEA1_chrX_153174284_153188880	153179975	AGGTTCAT others(42): Show AGGTTCATTTAATGGTTCTGAGGGGCGGCTTGAGATCCACTGAGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02109.hp2 others(7): Show HG00735.hp1 HG01243.hp1 HG02109.hp2 HG02486.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp2 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0004 a0003c0004t0006	a0003c0004t0004g0006 a0003c0004t0004g0014 a0003c0004t0006g0006 a0003c0004t0004g0006 a0003c0004t0004g0014 a0003c0004t0006g0006	10	343	0.0292	-49	c.-13 others(66): Show c.-139+615_-139+663delCATTTAATGGTTCTGAGGGGCGGCTTGA GATCCACTGAGGGGAGTGGTT	MAGEA1	ENSG00000198681.7	transcript	ENST00000356661.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI2_chr7_78012055_79458667	78505876	AGAAGGTA others(42): Show AGAAGGTAAGGGAGAAATAAATAAATGAGGGCTGGATTAAGTGAGGCTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(19): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01261.hp1 HG01261.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0015 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0002 a0001c0012t0001 a0001c0015t0001 a0002c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0002g0006 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0002t0001g0010 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0003t0001g0011 a0001c0003t0002g0004 a0001c0003t0003g0001 a0001c0003t0006g0032 a0001c0004t0001g0016 a0001c0004t0001g0018 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0005t0001g0005 a0001c0006t0001g0038 a0001c0010t0002g0021 a0001c0012t0001g0022 a0001c0015t0001g0027 a0002c0008t0001g0037	22	40	0.5500	-49	c.755 others(66): Show c.755-4138_755-4090delAGAGCCTCACTTAATCCAGCCCTCATTT ATTTATTTCTCCCTTACCTTC	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	4/21			chr7	TogoVar
MAN1A2_chr1_117362449_117533872	117430199	GGGCGGGG others(42): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0176 a0001c0004t0176	a0001c0004t0176g0228 a0001c0004t0176g0228	1	370	0.0027	-49	c.855 others(66): Show c.855+9564_855+9612delCCCCCCCACCTCCCTCCCGGACGGCACG GCTGGCCAGGCGGGGGGCTGA	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPK1_chr22_21754657_21872645	21814781	GATCACGC others(42): Show GATCACGCCACTGTACTCCAGCTCTGGGCGACACTGCAAGACTCCATCTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02615.hp2 others(1): Show HG01243.hp1 HG02280.hp1 HG02615.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192	4	348	0.0115	-49	c.120 others(66): Show c.120-6984_120-6936delGAGATGGAGTCTTGCAGTGTCGCCCAGA GCTGGAGTACAGTGGCGTGAT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPKAP1_chr9_125432394_125712208	125623971	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	300	0.0033	-49	c.498 others(68): Show c.498+33631_498+33679delAGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125624147	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03710.hp2 HG02055.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0107 a0001c0001t0015g0108 a0001c0001t0001g0107 a0001c0001t0015g0108	2	300	0.0067	-49	c.498 others(68): Show c.498+33455_498+33503delAGACAGGGCGGCTGGCCGGGCGGGGG GCTGACGCCCCCACCTCCCTCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125624529	TGCCCAGC others(42): Show TGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01516.hp1 others(1): Show HG00642.hp2 HG00738.hp1 HG01516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0157 a0001c0001t0001g0201 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0002t0001g0188	4	300	0.0133	-49	c.498 others(68): Show c.498+33073_498+33121delGGGGGGCTGAACCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCTGGGC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(42): Show CATATATATATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19063.hp2 NA19010.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0086 a0001c0001t0015g0071 a0001c0001t0001g0086 a0001c0001t0015g0071	2	298	0.0067	-49	c.212 others(68): Show c.212-28990_212-28942delTATATATATATATATATATATATATA TATATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02818.hp2 HG03540.hp1 others(1): Show HG01934.hp1 HG02818.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0249 a0001c0001t0005g0294 others(1): Show a0001c0001t0005g0137 a0001c0001t0005g0249 a0001c0001t0005g0294 a0001c0001t0005g0295	4	298	0.0134	-49	c.212 others(68): Show c.212-28992_212-28944delTATATATATATATATATATATATATA TATATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MCPH1_chr8_6401627_6653508	6505321	TTATATAC others(42): Show TTATATACATATAGAAAGAATATATATATTCTTTCTATATGTATATAGAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0073 a0002c0034t0073	a0002c0034t0073g0160 a0002c0034t0073g0160	1	262	0.0038	-49	c.221 others(68): Show c.2214+5399_2214+5447delCATATAGAAAGAATATATATATTCTT TCTATATGTATATAGAATATATA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCUB_chr4_109555246_109693719	109597335	AGACGGGG others(42): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00639.hp1 others(18): Show HG00438.hp1 HG00621.hp1 HG00639.hp1 HG02040.hp2 HG02071.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp2 HG02818.hp1 HG02965.hp2 HG03516.hp2 HG03704.hp1 NA18957.hp1 NA18962.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA19010.hp2 NA19089.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0006 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0082 others(18): Show a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0188 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0003g0231 a0001c0001t0005g0095 a0001c0001t0005g0099 a0001c0001t0005g0115 a0001c0001t0005g0171 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0005t0006g0009 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0098	21	336	0.0625	-49	c.99+ others(66): Show c.99+37067_99+37115delGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597705	TGGACGGG others(42): Show TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01975.hp2 others(11): Show HG01243.hp1 HG01891.hp2 HG01975.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0001c0001t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0023 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0004g0055 a0003c0003t0001g0053 a0003c0003t0001g0054	14	336	0.0417	-49	c.99+ others(66): Show c.99+37278_99+37326delCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCU_chr10_72687143_72892694	72783419	ATGCCACT others(42): Show ATGCCACTTATTCAACTCTTTGGCATCTAGGAGGCTTTGCATATGCCATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 NA18906.hp1 HG01884.hp2 HG02451.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118	3	210	0.0143	-49	c.151 others(68): Show c.151-50888_151-50840delCCACTTATTCAACTCTTTGGCATCTA GGAGGCTTTGCATATGCCATGTG	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MECOM_chr3_169078507_169668712	169378465	GCAAGCAA others(42): Show GCAAGCAAGCAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0148 a0001c0001t0014g0148	1	160	0.0063	-49	c.375 others(66): Show c.375+2673_375+2721delTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCTTGCTTGCTTG	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378470	CAAGCAAG others(42): Show CAAGCAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0041 a0002c0002t0003g0041	1	160	0.0063	-49	c.375 others(66): Show c.375+2668_375+2716delTCTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCTCTCTTTCTTGCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081329	TTCCCTTC others(42): Show TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	280	0.0036	-49	c.-47 others(60): Show c.-4736_-4688delTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4334		chr3	TogoVar
MED13_chr17_61937605_62070278	62021375	TCCCCACC others(42): Show TCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0017 a0001c0021t0017	a0001c0021t0017g0013 a0001c0021t0017g0013	1	326	0.0031	-49	c.128 others(68): Show c.1283+8117_1283+8165delGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGG	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED19_chr11_57698710_57717215	57716388	AGGGGCTG others(42): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 NA18955.hp2 HG02976.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0063 a0001c0001t0001g0092	2	380	0.0053	-49	c.-42 others(60): Show c.-4258_-4210delCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCC	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		4174		chr11	TogoVar
MELK_chr9_36567895_36682682	36615325	GCGGCTGG others(42): Show GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGTCGGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp2 others(22): Show HG00438.hp1 HG00558.hp2 HG00609.hp2 HG01069.hp1 HG01099.hp2 HG01261.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp1 HG02155.hp1 HG02273.hp1 HG02523.hp2 HG02602.hp1 HG02965.hp2 HG03490.hp1 HG04184.hp1 NA18612.hp1 NA18954.hp2 NA18962.hp1 NA18972.hp2 NA18994.hp1 NA19002.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0024 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0221	25	242	0.1033	-49	c.666 others(66): Show c.666+7696_666+7744delTCGGCACGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGG	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MELTF_chr3_196996740_197034817	197000761	TTGTGTCT others(42): Show TTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0123 a0001c0002t0026g0123	1	420	0.0024	-49	c.25 others(60): Show c.2562_*2610delCAAAACACTCAGCACAGTGCTTGGCACACGGCAT AGAGTCTAAGACACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		978		chr3	TogoVar
METTL16_chr17_2411049_2516888	2447711	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0036 a0001c0001t0037g0036	1	298	0.0034	-49	c.729 others(66): Show c.729-6201_729-6153delTCCCCCCACCTCCCTCCCGGACTGGGCG GCTGGCCGGGCGGGGGGCTGA	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9			chr17	TogoVar
METTL16_chr17_2411049_2516888	2447774	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	298	0.0034	-49	c.729 others(66): Show c.729-6264_729-6216delAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9			chr17	TogoVar
METTL27_chr7_73829590_73847516	73836062	ACCCCATC others(42): Show ACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCACCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG06807.hp2 NA20752.hp2 HG01358.hp1 HG06807.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0087 a0002c0002t0001g0100 a0002c0002t0001g0064 a0002c0002t0001g0087 a0002c0002t0001g0100	3	372	0.0081	-49	c.479 others(66): Show c.479-1109_479-1061delCGGCTGGTGGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGG	METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	5/5			chr7	TogoVar

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