JoGo: Joint Open Genome and Omics Platform

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
C4orf47_chr4_185421254_185454826	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACTGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG02523.hp2 others(24): Show HG00408.hp1 HG00544.hp2 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG04184.hp2 HG04199.hp1 NA18942.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18973.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19054.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0105 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0002c0002t0001g0243	27	358	0.0754	302	c.714 others(315): Show c.714+51_714+52insGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACTGTGAAACCCCGTCTCTACTGAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGAAATACTG	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	358	0.0028	302	c.714 others(315): Show c.714+51_714+52insGCCGGGTGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGAAATACTG	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(295): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGGGGAGGGAGAGAGA GGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGAGAAGGGGGGAGGG AGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02886.hp2 others(14): Show HG02622.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0006 a0001c0010 others(3): Show a0001c0003 a0001c0006 a0001c0010 a0002c0021 a0003c0005 a0003c0008	a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 others(3): Show a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0002c0021t0001 a0003c0005t0001 a0003c0008t0001	a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0006t0001g0018 others(8): Show a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0006t0001g0018 a0001c0006t0001g0020 a0001c0006t0001g0021 a0001c0006t0001g0030 a0001c0010t0001g0206 a0002c0021t0001g0031 a0003c0005t0001g0001 a0003c0005t0001g0063 a0003c0008t0001g0055	17	276	0.0616	302	c.286 others(319): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCTCCCTCCCCCCTCCTCTTTCTCTGCCC CCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCTCTCCCTCCCCCAT CTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCCCCAGTCTCTCTCCC CTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCCTCTTTCCCTTCCC CCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAACACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01934.hp1 HG01975.hp1 others(16): Show HG00642.hp1 HG01934.hp1 HG01975.hp1 HG02145.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0004 a0005c0010 a0013c0025	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0002c0004t0001 a0005c0010t0001 a0013c0025t0001	a0001c0001t0001g0033 a0001c0001t0001g0240 a0001c0001t0001g0297 others(15): Show a0001c0001t0001g0033 a0001c0001t0001g0240 a0001c0001t0001g0297 a0001c0001t0001g0353 a0001c0001t0001g0361 a0001c0008t0001g0084 a0002c0002t0001g0075 a0002c0002t0001g0203 a0002c0004t0001g0029 a0002c0004t0001g0227 a0002c0004t0001g0237 a0002c0004t0001g0238 a0002c0004t0001g0319 a0002c0004t0001g0356 a0002c0004t0001g0374 a0005c0010t0001g0281 a0005c0010t0001g0364 a0013c0025t0001g0312	19	428	0.0444	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTGTTTTCAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAACACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0239 a0002c0004t0001g0239	1	428	0.0023	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTGTTTTCAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG01884.hp1 others(42): Show HG00544.hp2 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18945.hp2 NA18957.hp2 NA18964.hp2 NA18977.hp1 NA18977.hp2 NA19004.hp2 NA19009.hp2 NA19056.hp1 NA19079.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0011 a0016 a0017	a0001c0006 a0001c0008 a0002c0002 others(7): Show a0001c0006 a0001c0008 a0002c0002 a0002c0004 a0003c0003 a0003c0013 a0007c0011 a0011c0026 a0016c0019 a0017c0018	a0001c0006t0003 a0001c0008t0003 a0002c0002t0003 others(7): Show a0001c0006t0003 a0001c0008t0003 a0002c0002t0003 a0002c0004t0003 a0003c0003t0003 a0003c0013t0003 a0007c0011t0003 a0011c0026t0003 a0016c0019t0003 a0017c0018t0003	a0001c0006t0003g0287 a0001c0006t0003g0299 a0001c0006t0003g0343 others(40): Show a0001c0006t0003g0287 a0001c0006t0003g0299 a0001c0006t0003g0343 a0001c0006t0003g0348 a0001c0006t0003g0349 a0001c0008t0003g0027 a0001c0008t0003g0360 a0002c0002t0003g0056 a0002c0002t0003g0060 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0179 a0002c0002t0003g0204 a0002c0002t0003g0207 a0002c0002t0003g0217 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0367 a0002c0004t0003g0088 a0002c0004t0003g0147 a0002c0004t0003g0183 a0002c0004t0003g0189 a0002c0004t0003g0301 a0002c0004t0003g0303 a0003c0003t0003g0020 a0003c0003t0003g0089 a0003c0003t0003g0133 a0003c0003t0003g0135 a0003c0003t0003g0196 a0003c0003t0003g0205 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0003g0242 a0003c0003t0003g0283 a0003c0003t0003g0308 a0003c0013t0003g0188 a0007c0011t0003g0169 a0007c0011t0003g0285 a0011c0026t0003g0350 a0016c0019t0003g0211 a0017c0018t0003g0083	45	428	0.1051	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCT GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0286 a0005c0010t0003g0286	1	428	0.0023	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTCAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACTGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	428	0.0023	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGG GGTTTCACAGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACTGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG02523.hp2 others(21): Show HG00408.hp2 HG00544.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG04184.hp1 HG04199.hp1 NA18942.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0103 a0002c0002t0001g0111 a0002c0002t0001g0112 others(17): Show a0002c0002t0001g0103 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0127 a0002c0002t0001g0168 a0002c0002t0001g0175 a0002c0002t0001g0273 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0041 a0002c0005t0001g0065 a0002c0005t0001g0096 a0002c0005t0001g0151 a0002c0005t0001g0156 a0002c0005t0001g0335 a0002c0005t0001g0336 a0002c0005t0001g0337 a0002c0005t0001g0338	24	428	0.0561	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGG GGTTTCACAGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0174 a0003c0003t0003g0174	1	428	0.0023	302	c.47 others(313): Show c.4743_*4744insTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACA CCCGGCCAGTATTTCTTT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		4423		chr4	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(295): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	454	0.0022	302	c.626 others(317): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCKAR_chr4_26476396_26495484	26492715	T T	TTCCCTTC others(295): Show TTCCCTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTC TTTCTCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTT CTTTCTTTCTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCC CTTCCTCCTTTCTTTCTCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCC TCCTTTCTTTTTCTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTT CTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	454	0.0022	302	c.-24 others(313): Show c.-2449_-2448insAAGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAA GAAAGAGAAAAAGAAAGGAGGGAGGGAGGGAAGAAAGGAAAGAAAGAGAG AGAGAAAGAAAGGAGGAAGGGAGGGAAGAAAGGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAGAAAGA AAGAAAGAGAGAAAGAAAGAAAAAGAAAGGAGGGAGGGAGGGAAGAAAGG AAAGAAAGAGAGAGAGAAAGAAAGGAGGAAGGGAGGGAAGAAAGGAAAGG AAGGAAGGAAGGAAGGGA	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		2232		chr4	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATTTAT others(295): Show ATATTTATATAAATATATATATAACATATATATATATTTATATAAATATA TATATAACATATATATATATTTATATAAATATATATATAACATATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	424	0.0024	302	c.-29 others(319): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(295): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATATACT CATATATATATATATATATATATACTCATATATATATATATATATATATA CTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0116 a0002c0002t0003g0116	1	370	0.0027	302	c.232 others(323): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA TACTCATATATATATATATATATATATACTCATATATATATATATATATA TATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(295): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATACTCATATATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATATACTCATATATATATATATATATATATA CTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18978.hp2 NA19000.hp2 NA18954.hp1 NA18978.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0365 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0365	3	370	0.0081	302	c.232 others(323): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATACTCATATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATATATATATACTCATATATATATATATATATA TATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(295): Show TATATATATATATATATATATATATATATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATACTCATA TATATATATACTCATATATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATATACTCATATATATATATATATATATATA CTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0124 a0002c0002t0003g0124	1	370	0.0027	302	c.232 others(323): Show c.2326-11590_2326-11589insTATATATATATACACTCATATATA TATATATACTCATATATATATATATATACTCATATATATATATATATACT CATATATATATATACTCATATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATATATATATACTCATATATATATATATATATA TATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(295): Show TATATATATATATATATATATATATATATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATATATATACTCATATATATATATATATATATATA CTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0120 a0002c0002t0003g0120	1	370	0.0027	302	c.232 others(323): Show c.2326-11590_2326-11589insTATATATATATACACTCATATATA TATATATACTCATATATATATATATATACTCATATATATATATATATATA CTCATATATATATATACTCATATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATATATATATACTCATATATATATATATATATA TATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00423.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0002 a0001c0001t0001g0039	2	442	0.0045	302	c.27 others(313): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG03942.hp1 NA18906.hp2 others(5): Show HG01358.hp1 HG03942.hp1 NA18906.hp2 NA18947.hp1 NA19060.hp1 NA19070.hp1 NA19080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0005g0002 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0005g0002 a0001c0001t0005g0014	8	442	0.0181	302	c.27 others(313): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	442	0.0023	302	c.27 others(313): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	442	0.0023	302	c.27 others(313): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACACATATATGTGTGTGTATACGCATACACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	302	c.27 others(313): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATAC ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH4_chr20_61247261_61945617	61383629	A A	ATCTATAT others(295): Show ATCTATATATGATATATATGAATATATGAATATATGATACGTATGAATAT ATATGATATATATGGATATATGATACGTATGAATATATATCATATATGTA TATATGATATGATATATATGAATATATGATATATATGAACATATATATGG ATATTATGAATATATATGATATATATGAATATATATGGATATATATGAAT ATATATGATATATGAATATATATGGATATATATGAATATATATGATTGAT ATATATCATATATGTATGCATATATGTGATATATATCATATATGAATATA TAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02451.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0019 a0002c0014t0003 a0001c0001t0019 a0002c0014t0003	a0001c0001t0019g0091 a0002c0014t0003g0090 a0001c0001t0019g0091 a0002c0014t0003g0090	2	106	0.0189	302	c.169 others(323): Show c.169+128694_169+128695insTATATATGATATATATGAATATAT GAATATATGATACGTATGAATATATATGATATATATGGATATATGATACG TATGAATATATATCATATATGTATATATGATATGATATATATGAATATAT GATATATATGAACATATATATGGATATTATGAATATATATGATATATATG AATATATATGGATATATATGAATATATATGATATATGAATATATATGGAT ATATATGAATATATATGATTGATATATATCATATATGTATGCATATATGT GATATATATCATATATGAATATATATTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF2_chr10_11012872_11341675	11284291	G G	GCGTGGTG others(295): Show GCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGA GTGTGTGGTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATG AGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGGA TGAGTGTGTGGTGGGTGGATGACGGAGGGGTGGGTGGATGATGGATGACT GTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA GTGCGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGGGATGAGGGATG AGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02647.hp2 others(3): Show HG01109.hp1 HG02622.hp2 HG02647.hp2 HG03486.hp2 NA19005.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0032	a0001c0001t0003g0062 a0001c0001t0003g0169 a0001c0001t0006g0127 others(3): Show a0001c0001t0003g0062 a0001c0001t0003g0169 a0001c0001t0006g0127 a0001c0001t0010g0015 a0001c0001t0017g0153 a0001c0001t0032g0075	6	194	0.0309	302	c.842 others(319): Show c.842-4127_842-4126insCGTGGTGGGTGGATGAGGGATGAGTGCG TGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGGGATGAGGGATGAGTGT GTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGT GTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGACGGAGGG GTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGTG TGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAGTG TGTGGTGGGGGATGAGGGATGAGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12			chr10	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(295): Show AGAATATATATATATAGAATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	388	0.0026	302	c.487 others(319): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(295): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	388	0.0026	302	c.487 others(319): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(295): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATAGAATATATATATATAGAATA TAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	388	0.0026	302	c.487 others(319): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATAGAATATATATAT AGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24882039	C C	CATCTATA others(295): Show CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATAGATATATAGATACATCTATATATA GATACATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAGA TATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATA GATACATCTATATAGATATATAATCTATATAGATACATCTATATAGATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0009 a0012c0015t0009	a0012c0015t0009g0076 a0012c0015t0009g0078 a0012c0015t0009g0076 a0012c0015t0009g0078	2	440	0.0046	302	c.11 others(313): Show c.1137_*1138insTATATATCTATATAGATGTATCTATATAGATTAT ATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCT ATATAGATGTATCTATATATCTAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATAT ATAGATGTATCTATGTATCTATATATAGATGTATCTATATATCTATATAG ATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTAT CTATATATCTATATAGAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		239		chr13	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(295): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	258	0.0039	302	c.403 others(317): Show c.403-623_403-622insCTTTCTTTCTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(295): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATACTCATATACATGTGTATATATACG TGTATATATACTCATATACATGTGTATATATACGTGTATATATACTCATA TACATGTGTATATATACGTGTATATATACTCATATACATGTGTATATATA CGT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19070.hp2 NA18974.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0018 a0002c0002t0001g0019	2	372	0.0054	302	c.894 others(317): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATACAC ATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTATAT ATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATAC ACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575549	T T	TGTGTGTA others(295): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATA TAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	372	0.0027	302	c.894 others(317): Show c.894+721_894+722insGTATATGAGTATATATACGTGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(295): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0210 a0001c0007t0001g0210	1	324	0.0031	302	c.365 others(321): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45501894	A A	AGAAGGAC others(295): Show AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCTCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG GTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCAGTCACCT CCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCT GCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0100 a0004c0100	a0004c0100t0001 a0004c0100t0001	a0004c0100t0001g0039 a0004c0100t0001g0039	1	292	0.0034	302	c.268 others(321): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCTCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG GGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCA CAGCCAGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCG GTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT CCCTCTGCAGAAGGACCCTCAGGGGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501991	T T	TCAGGGGC others(295): Show TCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCC CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC CCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19240.hp2 HG02895.hp2 NA19240.hp2	a0022 a0024 a0022 a0024	a0022c0068 a0024c0066 a0022c0068 a0024c0066	a0022c0068t0010 a0024c0066t0010 a0022c0068t0010 a0024c0066t0010	a0022c0068t0010g0004 a0024c0066t0010g0066 a0022c0068t0010g0004 a0024c0066t0010g0066	2	292	0.0069	302	c.268 others(321): Show c.2684-2013_2684-2012insCTCCGCAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(295): Show AATATATAAATATATATAAATATATATATAAATATATATAAATATATAAA TATATATGTAAATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATAAATATATATAAATACATATGTAAATATATA AATATATATAAATATATAAATATATATAGATATATATAAATATATACAAA TATATATAGATATATATATAAATATATATAAATATATATAGATATATATA TAAATATATATAAATATATATAGATATATATAAATATATATAAATATATA GAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	264	0.0038	302	c.181 others(321): Show c.1812+3031_1812+3032insATCTATATATTTATATATATTTATAT ATATCTATATATATTTATATATATTTATATATATATCTATATATATTTAT ATATATTTATATATATATCTATATATATTTGTATATATTTATATATATCT ATATATATTTATATATTTATATATATTTATATATTTACATATGTATTTAT ATATATTTATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATTTACATATATATTTATATATTTATATATATTTAT ATATATATTTATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(295): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0323 a0002c0004t0002g0323	1	344	0.0029	302	c.85- others(319): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970058	T T	TGTGGGTG others(295): Show TGTGGGTGAGTGGGGTCTTTGGGGTGAGGTGGGGTGTGTGGATGAGTGGG GTCTGTGGTTGACTGAGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTG GGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAG CGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGG TGAGTGGGGGCTGTGGGTGAGTGTGCTCTGTGGCTGAGTGGGGTCTGTGG GGTAAGCGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCT GTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0064 a0064	a0064c0076 a0064c0076	a0064c0076t0007 a0064c0076t0007	a0064c0076t0007g0042 a0064c0076t0007g0042	1	412	0.0024	302	c.393 others(319): Show c.3937-137_3937-136insCACAGCCCCCACTCACCCCACAGACCCC ACTCACCCCACAGACCCCGCTTACCCCACAGACCCCACTCAGCCACAGAG CACACTCACCCACAGCCCCCACTCACCCCACAGCCCCCACTCACCCCACA GACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCCACTCAGCC ACAGAACACACTCACCCACAGACCCCACTCACCCACAGATTCCACTCACC CCACAGACCTCAGTCAACCACAGACCCCACTCATCCACACACCCCACCTC ACCCCAAAGACCCCACTCACCCAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970058	T T	TGTGGGTG others(295): Show TGTGGGTGAGTGGGGTCTTTGGGGTGAGGTGGGGTGTGTGGATGAGTGGG GTCTGTGGTTGACTGAGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTG GGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAG CGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGG TGAGTGGGGGCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGG GGTAAGCGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCT GTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01168.hp1 others(6): Show HG00639.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp2 HG01978.hp2 HG02698.hp2 HG03710.hp2 NA21309.hp1	a0008 a0020 a0021 others(2): Show a0008 a0020 a0021 a0022 a0029	a0008c0092 a0020c0035 a0020c0097 others(3): Show a0008c0092 a0020c0035 a0020c0097 a0021c0066 a0022c0030 a0029c0088	a0008c0092t0002 a0020c0035t0002 a0020c0097t0002 others(3): Show a0008c0092t0002 a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 a0022c0030t0002 a0029c0088t0002	a0008c0092t0002g0021 a0020c0035t0002g0003 a0020c0035t0002g0403 others(5): Show a0008c0092t0002g0021 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0066t0003g0295 a0022c0030t0002g0293 a0022c0030t0002g0294 a0029c0088t0002g0255	9	412	0.0218	302	c.393 others(319): Show c.3937-137_3937-136insCACAGCCCCCACTCACCCCACAGACCCC ACTCACCCCACAGACCCCGCTTACCCCACAGACCCCACTCAGCCACAGAA CACACTCACCCACAGCCCCCACTCACCCCACAGCCCCCACTCACCCCACA GACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCCACTCAGCC ACAGAACACACTCACCCACAGACCCCACTCACCCACAGATTCCACTCACC CCACAGACCTCAGTCAACCACAGACCCCACTCATCCACACACCCCACCTC ACCCCAAAGACCCCACTCACCCAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970093	G G	GGGGTGAG others(295): Show GGGGTGAGTGGGGTCTGTGGGGTGAGTGGGTGCTGTGGGTGAGTGGGGTC TTTGGGGTGAGGTGGGGTGTGTGGATGAGTGGGGTCTGTGGTTGACTGAG GTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTGGGGTCTGTGGGTGAGTG TGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAGCGGGGGCTGTGGGGTGA GTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGTGAGTGGGGTCTGTGGG GTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTG TAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02922.hp1 others(1): Show HG02572.hp1 HG02818.hp1 HG02922.hp1 HG03130.hp1	a0001 a0043 a0058 a0001 a0043 a0058	a0001c0033 a0043c0061 a0058c0132 a0001c0033 a0043c0061 a0058c0132	a0001c0033t0011 a0043c0061t0003 a0058c0132t0020 a0001c0033t0011 a0043c0061t0003 a0058c0132t0020	a0001c0033t0011g0154 a0001c0033t0011g0168 a0043c0061t0003g0260 others(1): Show a0001c0033t0011g0154 a0001c0033t0011g0168 a0043c0061t0003g0260 a0058c0132t0020g0208	4	412	0.0097	302	c.393 others(319): Show c.3937-172_3937-171insTTACAGCCCCCACTCACCCCACAGACCC CACTCACCCCACAGCCCCCGCTTACCCCACAGACCCCACTCACCCCACAG CCCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCC ACAGACCCCACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACC CACAGATTCCACTCACCCCACAGACCTCAGTCAACCACAGACCCCACTCA TCCACACACCCCACCTCACCCCAAAGACCCCACTCACCCACAGCACCCAC TCACCCCACAGACCCCACTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COP1_chr1_175939831_176212286	176200694	T T	TAAAGAAA others(295): Show TAAAGAAAAACACACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG GAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAACCTGGGCAACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	302	c.407 others(319): Show c.407+5877_407+5878insTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGTTGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGTGTTTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/19			chr1	TogoVar
CREB3L2_chr7_137869979_138007086	137946912	T T	TTATATAT others(295): Show TTATATATATATAGTTATATATATAGTTATATATATATATAGTTATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG01243.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0039 a0001c0001t0005 a0001c0001t0039	a0001c0001t0005g0271 a0001c0001t0039g0216 a0001c0001t0005g0271 a0001c0001t0039g0216	2	288	0.0069	302	c.103 others(321): Show c.103-18547_103-18546insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATAACTATATATATATATA ACTATATATATAACTATATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946912	T T	TTATATAT others(295): Show TTATATATATATATAGTTATATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18964.hp2 NA19010.hp1 others(1): Show NA18955.hp1 NA18964.hp2 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0003 a0001c0001t0012 a0001c0001t0063 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0063 a0001c0011t0012	a0001c0001t0003g0055 a0001c0001t0012g0121 a0001c0001t0063g0068 others(1): Show a0001c0001t0003g0055 a0001c0001t0012g0121 a0001c0001t0063g0068 a0001c0011t0012g0263	4	288	0.0139	302	c.103 others(321): Show c.103-18547_103-18546insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATATAACTATATATATAAC TATATATATAACTATATATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CSMD1_chr8_2930361_4999914	3183094	A A	AAACGCCT others(295): Show AAACGCCTAATCTATCTATCCCTGAAACATCGAGTAGGTCTCTAACGCCT AATCTATCTATCCCTGAAACATCGAGTAGGTCTCTAACGCCTAATCTATC TATCCCTGAAATATCGAGTAGGTCTCTAACGTTTCTTAACGATACCATCG GCATCCATCCACGTCACAAACTGAACGCCTAATCTATCTATCCCTGAAAC ATCGAGTAGGTCTCTAACGCCTAATCTATCTATCCCTGAAATATCGAGTA GGTCTCTAATGTTTCTTAACGATACCATCGGCACCCACCGACGTCACGAA CTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0037 a0037	a0037c0101 a0037c0101	a0037c0101t0008 a0037c0101t0008	a0037c0101t0008g0023 a0037c0101t0008g0023	1	126	0.0079	302	c.562 others(321): Show c.5621-2182_5621-1881dupCAGTTCGTGACGTCGGTGGGTGCCGA TGGTATCGTTAAGAAACATTAGAGACCTACTCGATATTTCAGGGATAGAT AGATTAGGCGTTAGAGACCTACTCGATGTTTCAGGGATAGATAGATTAGG CGTTCAGTTTGTGACGTGGATGGATGCCGATGGTATCGTTAAGAAACGTT AGAGACCTACTCGATATTTCAGGGATAGATAGATTAGGCGTTAGAGACCT ACTCGATGTTTCAGGGATAGATAGATTAGGCGTTAGAGACCTACTCGATG TTTCAGGGATAGATAGATTAGGCGTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(295): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGA GAGGGAGGGGAGGGGGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGG GAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAG GGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0078 a0002c0078	a0002c0078t0044 a0002c0078t0044	a0002c0078t0044g0064 a0002c0078t0044g0064	1	126	0.0079	302	c.416 others(323): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCCCCTCCCC CTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCTCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(295): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0225 a0004c0005t0001g0225	1	386	0.0026	302	c.-27 others(323): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTDSPL2_chr15_44422629_44534038	44531317	G G	GCCAATTT others(295): Show GCCAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00741.hp2 others(51): Show HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01928.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02976.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18944.hp2 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19011.hp1 NA19063.hp1 NA19064.hp2 NA19074.hp2 NA19090.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028	a0001c0001t0001g0037 a0001c0001t0001g0067 a0001c0001t0001g0070 others(51): Show a0001c0001t0001g0037 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0134 a0001c0001t0006g0084 a0001c0001t0006g0089 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0113 a0001c0001t0006g0135 a0001c0001t0006g0138 a0001c0001t0015g0104 a0001c0001t0015g0224 a0001c0001t0019g0079 a0001c0001t0023g0083 a0001c0001t0028g0100	54	234	0.2308	302	c.71 others(313): Show c.7143_*7144insCCAATTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding		2280		chr15	TogoVar
CWC25_chr17_38795441_38830321	38825929	T T	TTCTTTTT others(295): Show TTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG03540.hp2 others(2): Show HG02970.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0025 a0001c0003t0005g0128 a0001c0003t0005g0129 others(1): Show a0001c0003t0005g0025 a0001c0003t0005g0128 a0001c0003t0005g0129 a0001c0003t0005g0130	5	383	0.0131	302	c.-74 others(311): Show c.-747_-746insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAGA	CWC25	ENSG00000273559.5	transcript	ENST00000614790.5	protein_coding		609		chr17	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(295): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATATTATATTATATATATTATATAATATATATAATATATATATAA TATATAATATATAATATTATTATATATATTATAAATTATATAATATATAT AATATATATATTATATATAATATATTATATATTATATTATATATATATAT ATATATTTATATAATAGTATATATATATTATATATATATAATATATATAT AATATATAATATATATATATATATATATATATATCTATATATAAATATAT AAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0136 a0004c0004t0005g0136	1	240	0.0042	302	c.36 others(313): Show c.3665_*3666insATTATATATTTATATATAGATATATATATATATA TATATATATATTATATATTATATATATATTATATATATATAATATATATA TACTATTATATAAATATATATATATATATATAATATAATATATAATATAT TATATATAATATATATATTATATATATTATATAATTTATAATATATATAA TAATATTATATATTATATATTATATATATATTATATATATTATATAATAT ATATAATATAATATATATTATATATTATATATATATTATATATATTATAT AATATATATAATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(295): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGC AGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGC AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19084.hp1 NA19090.hp1 NA18954.hp2 NA19084.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0060 a0002c0003t0001g0068 a0002c0003t0001g0034 a0002c0003t0001g0060 a0002c0003t0001g0068	3	380	0.0079	302	c.121 others(319): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCG CCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCC TGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGC TGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCC GCGCTGCCTGCGCCTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(295): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03491.hp2 HG03492.hp2 others(13): Show HG02165.hp1 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18943.hp2 NA18962.hp1 NA18964.hp1 NA18980.hp2 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA19002.hp2 NA19012.hp2 NA19062.hp2 NA19077.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0078 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0056 a0001c0001t0004g0057	16	288	0.0556	302	c.-7- others(317): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)