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
HLA-C_chr6_31263749_31277092	31264271	T T	TAAAAAAA others(307): Show TAAAAAAAAATTAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCTGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0005 a0009c0009t0005	a0009c0009t0005g0009 a0009c0009t0005g0009	1	449	0.0022	314	c.48 others(325): Show c.4897_*4898insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGTCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCATGCTTAATTTTTTTTT	HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding		4477		chr6	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(307): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	314	c.53 others(325): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HRH1_chr3_11149493_11268557	11162491	T T	TGTCGGCC others(307): Show TGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAGAACTACC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	352	0.0028	314	c.-36 others(331): Show c.-36+7940_-36+7941insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGAACTACCGTC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HS2ST1_chr1_86909635_87114982	87093858	T T	TTTGTTTT others(307): Show TTTGTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0113 a0001c0001t0003g0022 a0001c0001t0003g0113	2	154	0.0130	314	c.588 others(331): Show c.588+1203_588+1204insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCCGGCCTTGTTTTCCTTTTT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22834677	T T	TAAAAAGT others(307): Show TAAAAAGTATCCATTTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(40): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG01109.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01891.hp1 HG02074.hp1 HG02165.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03225.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0006c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0007 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0006c0012t0001	a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0177 others(40): Show a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0233 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0311 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0339 a0001c0001t0004g0340 a0001c0001t0007g0165 a0001c0002t0001g0013 a0001c0002t0001g0103 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0142 a0001c0002t0001g0348 a0001c0002t0007g0044 a0001c0002t0007g0047 a0001c0003t0003g0021 a0001c0004t0002g0179 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0304 a0001c0005t0002g0098 a0006c0012t0001g0347	43	350	0.1229	314	c.485 others(333): Show c.485+19601_485+19602insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAGTATCCATTTTTTG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(307): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0079 a0003c0079	a0003c0079t0001 a0003c0079t0001	a0003c0079t0001g0127 a0003c0079t0001g0127	1	174	0.0058	314	c.132 others(333): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
IKBKG_chrX_154542620_154570033	154558031	T T	TCAGTGTC others(307): Show TCAGTGTCCACTCTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0005g0033 a0001c0001t0001g0034 a0001c0001t0005g0033	2	246	0.0081	314	c.400 others(329): Show c.400-487_400-486insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT TGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATC TCCGCTCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGTGTCCACTCTT	IKBKG	ENSG00000269335.7	transcript	ENST00000594239.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
INVS_chr9_100094243_100307175	100133477	T T	TGAAACTT others(307): Show TGAAACTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0020 a0005c0006t0020	a0005c0006t0020g0099 a0005c0006t0020g0099	1	182	0.0055	314	c.273 others(331): Show c.273+6938_273+6939insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGAAACTTCTT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IQCJ_chr3_159064319_159268747	159229709	T T	TCCTCCCC others(307): Show TCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTCCT CCTCCCCACCCCCCTCCCCCCTCCTCCCCTCCCCCCTCCTCCCCCACCTC CATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCCCCCC CTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCACCTCCT CCTCCTCCCCCCTCCTCGTCCTCCTCCCCCCTCCTCCTCTCCCCCCCTCC TCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCT CCCCATTCTGCTCTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	252	0.0040	314	c.10- others(331): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCACCCCCCTCCCCCCTCCTCCCCTCCCC CCTCCTCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACC TCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTC CCCCTCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCCTCC TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTG CTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
ISOC2_chr19_55447985_55466642	55448053	A A	ACACACAC others(307): Show ACACACACCACACACACCACACATACACATACACCACACACTGACCCTCC ACACCACACACGCCGCACAGACCACACATACACACACACACCACACACAC ACCACACACACCACACATACACACACACACCACACACTGACCCTCCACAC CACACACACGCCACACAGACCACACATTACACACACACGCCACACACACA CACCACACACTGACCCCCCCACACCACACACACGCCACACAGGCCACACA TACACACACACACCACCCACAGACCACACAAACACACACACCACACACAC ACACACCACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	380	0.0026	314	c.52 others(325): Show c.5254_*5255insGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGT TTGTGTGGTCTGTGGGTGGTGTGTGTGTGTATGTGTGGCCTGTGTGGCGT GTGTGTGGTGTGGGGGGGTCAGTGTGTGGTGTGTGTGTGTGGCGTGTGTG TGTAATGTGTGGTCTGTGTGGCGTGTGTGTGGTGTGGAGGGTCAGTGTGT GGTGTGTGTGTGTATGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGT GTATGTGTGGTCTGTGCGGCGTGTGTGGTGTGGAGGGTCAGTGTGTGGTG TATGTGTATGTGTGGTGTGTGTGGTGTGTG	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		4931		chr19	TogoVar
JAZF1_chr7_27825577_28185795	27980742	T T	TAAAAGCA others(307): Show TAAAAGCACCATCTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG00738.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0043 a0001c0001t0001g0106 a0001c0001t0002g0043	2	206	0.0097	314	c.188 others(333): Show c.188+11166_188+11167insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAAGATGGTGCTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
KCNH7_chr2_162366407_162843767	162788025	A A	ACCCTAAT others(307): Show ACCCTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	100	0.0100	314	c.307 others(333): Show c.307+48511_307+48512insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGGG	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(307): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAGAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTATATATATAA TATATATTATATATATATAATTCTATATATAATATATATTATATATATAA TTCTATATATAATATATATTATATATATAATTCTATATATATAATATATA TTATATATATAATTCTATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0047 a0001c0002t0008g0047	1	80	0.0125	314	c.62- others(333): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATAGAATTATATATATA ATATATATTATATATAGAATTATATATATATAATATATATTATATATATA ATTATATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTCTATATATAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(307): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATAATATATATTATATATATAATTCTATATATATAA TATATATTATATATATAATTCTATATATATAATATATATTATATATATAA TTCTATATATATAATATATATTATATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATAATATATATTATATATATAATTCTAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0002t0001g0065 a0001c0001t0001g0066 a0001c0002t0001g0065	2	80	0.0250	314	c.62- others(333): Show c.62-463507_62-463506insTAATATATATTATATATAGAATTATA TATATAATATATATTATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATA GAATTATATATATAATATATATTATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATATAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37758145	G G	GCAGTAAT others(307): Show GCAGTAATAGCAGCTGACAATTCGAATTCTAAAGCCAGGCTGCCCAGGTT CTAATCCAGACATCCCCTTACCTGCTGGGTAACCTTGGACAAGTCTCTTA AGTTCTCTATGTCTCTTAGTTTCCTTATTTGTATAATGAGGCTACCTCAT GGAAGCTGTCTCGAGGATTAAACGAGATGATATATGCGAAGGCAGGGATT TTTGTCTGTTGTGTTCAGCACTGTACTCCCAGTGCCTGGAACAGTGCCTG GTACACAATAGGTGTTCAGTAAGTACCTGTAGGAAGAATGCTGAATGCAT GAGGGGCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0062 a0001c0001t0026 a0001c0001t0062	a0001c0001t0026g0102 a0001c0001t0062g0126 a0001c0001t0026g0102 a0001c0001t0062g0126	2	198	0.0101	314	c.26- others(331): Show c.26-43015_26-43014insTCTGGCTGGCCCCTCATGCATTCAGCAT TCTTCCTACAGGTACTTACTGAACACCTATTGTGTACCAGGCACTGTTCC AGGCACTGGGAGTACAGTGCTGAACACAACAGACAAAAATCCCTGCCTTC GCATATATCATCTCGTTTAATCCTCGAGACAGCTTCCATGAGGTAGCCTC ATTATACAAATAAGGAAACTAAGAGACATAGAGAACTTAAGAGACTTGTC CAAGGTTACCCAGCAGGTAAGGGGATGTCTGGATTAGAACCTGGGCAGCC TGGCTTTAGAATTCGAATTGTCAGCTGCTATTACTG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(307): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	232	0.0043	314	c.-67 others(333): Show c.-67-49162_-67-49161insATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(307): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	232	0.0043	314	c.-67 others(333): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(307): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA TAATATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTTATATATATTATATATAAAATATATA TATTATATATATAATATATATTATATATATAATATATATATTTTATATAT ATAATATATATTATATATATAATATATATATTATATATAATATATATTAT ATATATAAAATATATATAATATATATAATATATATTATATATATAATATA TGTATTATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0052 a0001c0013t0002g0052	1	54	0.0185	314	c.-15 others(335): Show c.-153+10045_-153+10046insTATATATATAATACATATATTATA TATATAATATATATTATATATATTATATATATTTTATATATATAATATAT ATTATATATAATATATATATTATATATATAATATATATTATATATATAAA ATATATATATTATATATATAATATATATTATATATATAATATATATATTT TATATATAATATATATAAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTTTATATATATAATATATATATTATATATATAA TATATATTATATATATAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(307): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA TAATATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTTATATATATTATATATATAAAATATA TATATTATATATATAATATATATTATATATAATATATATATTTTATATAT ATAATATATATTATATATATAATATATATATTATATATAATATATATTAT ATATATAAAATATATATAATATATATAATATATATTATATATATAATATA TGTATTATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01261.hp1 HG00639.hp2 HG00642.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0002 a0001c0001 a0001c0007 a0003c0002	a0001c0001t0039 a0001c0007t0014 a0003c0002t0041 a0001c0001t0039 a0001c0007t0014 a0003c0002t0041	a0001c0001t0039g0048 a0001c0007t0014g0049 a0003c0002t0041g0047 a0001c0001t0039g0048 a0001c0007t0014g0049 a0003c0002t0041g0047	3	54	0.0556	314	c.-15 others(335): Show c.-153+10045_-153+10046insTATATATATAATACATATATTATA TATATAATATATATTATATATATTATATATATTTTATATATATAATATAT ATTATATATAATATATATATTATATATATAATATATATTATATATATAAA ATATATATATTATATATAATATATATTATATATATAATATATATATTTTA TATATATAATATATATAAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTTTATATATATAATATATATATTATATATATAA TATATATTATATATATAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIF14_chr1_200546500_200625751	200607057	T T	TAAAAAAC others(307): Show TAAAAAACTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCG GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCTACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp2 others(76): Show HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01099.hp2 HG01346.hp2 HG01884.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0020 others(1): Show a0001c0001 a0001c0004 a0001c0020 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0004t0048 a0001c0020t0001 a0005c0010t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0136 others(72): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0220 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0241 a0001c0001t0008g0194 a0001c0001t0013g0317 a0001c0001t0026g0227 a0001c0001t0030g0365 a0001c0001t0030g0368 a0001c0001t0033g0042 a0001c0004t0048g0367 a0001c0020t0001g0214 a0005c0010t0003g0243 a0005c0010t0003g0244	79	390	0.2026	314	c.155 others(331): Show c.1555-260_1555-259insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGCAGTTTTTT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding	5/29			chr1	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0333 a0001c0003t0029g0333	1	375	0.0027	314	c.317 others(331): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0354 a0001c0003t0029g0354	1	375	0.0027	314	c.317 others(331): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0032 a0001c0003t0004g0032	1	375	0.0027	314	c.317 others(331): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGTGGGGGCGGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	375	0.0027	314	c.317 others(331): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035469	G G	GGCGGGAA others(307): Show GGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGCGCGGCGGGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGGCGGGAACGGCGCTGCGGGGGTGGGGGGCGGGGGAACGGCG CTGCGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0062 a0001c0003t0004g0062	1	375	0.0027	314	c.317 others(331): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGGCGCGGCGGGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG GTGGGGGGCGGGGGAACGGCGCTGCGGGGGGGGGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12			chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(307): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTC ACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01978.hp1 NA19002.hp2 HG00639.hp2 HG01978.hp1 NA19002.hp2	a0003 a0005 a0003 a0005	a0003c0025 a0005c0017 a0005c0058 a0003c0025 a0005c0017 a0005c0058	a0003c0025t0056 a0005c0017t0002 a0005c0058t0079 a0003c0025t0056 a0005c0017t0002 a0005c0058t0079	a0003c0025t0056g0057 a0005c0017t0002g0045 a0005c0058t0079g0043 a0003c0025t0056g0057 a0005c0017t0002g0045 a0005c0058t0079g0043	3	160	0.0188	314	c.135 others(333): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTG CGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF7_chr2_207069137_207170948	207112164	T T	TGGGCAAA others(307): Show TGGGCAAATGCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0137 a0001c0001t0015g0137	1	318	0.0031	314	c.733 others(333): Show c.733+11609_733+11610insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAGCATTTGCCC	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding	2/3			chr2	TogoVar
KRT81_chr12_52280913_52296534	52291701	T T	TAAAAGAT others(307): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18969.hp2 NA18983.hp1 others(1): Show NA18966.hp2 NA18969.hp2 NA18983.hp1 NA19010.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0004	4	454	0.0088	314	c.-23 others(323): Show c.-237_-236insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAAGACTGACATCTTTT	KRT81	ENSG00000205426.11	transcript	ENST00000327741.9	protein_coding		168		chr12	TogoVar
KRT86_chr12_52269645_52314163	52291701	T T	TAAAAGAT others(307): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18969.hp1 NA18983.hp1 others(1): Show NA18966.hp1 NA18969.hp1 NA18983.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0233 a0001c0002t0001g0243 a0001c0002t0001g0036 a0001c0002t0001g0233 a0001c0002t0001g0243	4	414	0.0097	314	c.-4- others(331): Show c.-4-10194_-4-10193insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAGATGTCAGTCTTGG	KRT86	ENSG00000170442.12	transcript	ENST00000423955.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
L1TD1_chr1_62189849_62217328	62192159	T T	TAATTTTT others(307): Show TAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0011 a0010c0011t0011	a0010c0011t0011g0355 a0010c0011t0011g0355	1	414	0.0024	314	c.-29 others(325): Show c.-2967_-2966insAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCACGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		2689		chr1	TogoVar
L1TD1_chr1_62189849_62217328	62192159	T T	TAATTTTT others(307): Show TAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01515.hp2 HG01517.hp2 HG00323.hp1 HG01515.hp2 HG01517.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0011 a0010c0011t0026 a0010c0011t0011 a0010c0011t0026	a0010c0011t0011g0006 a0010c0011t0026g0006 a0010c0011t0011g0006 a0010c0011t0026g0006	3	414	0.0073	314	c.-29 others(325): Show c.-2967_-2966insAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		2689		chr1	TogoVar
LDAF1_chr16_21153674_21185616	21177331	A A	AGTGATAG others(307): Show AGTGATAGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT TCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02897.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0190 a0001c0001t0008g0051 a0001c0001t0008g0190	3	390	0.0077	314	c.405 others(331): Show c.405-2131_405-2130insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTTCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGTGATAGTTTCTT	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LINGO2_chr9_27932617_29218601	28960606	G G	GAAATATG others(307): Show GAAATATGTATAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19043.hp1 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0012g0005 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0012g0005	3	62	0.0484	314	c.-49 others(335): Show c.-491-12693_-491-12692insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAATTATACATATTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
LRIT2_chr10_84215571_84230544	84223487	G G	GTTAATTG others(307): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0051 a0004c0004t0004g0051	1	418	0.0024	314	c.893 others(329): Show c.893-808_893-807insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAATACCCAATTAA	LRIT2	ENSG00000204033.10	transcript	ENST00000372113.7	protein_coding	2/2			chr10	TogoVar
LRP2_chr2_169122109_169367534	169179812	T T	TAAAAATC others(307): Show TAAAAATCTATTGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0001 a0001c0075t0001	a0001c0075t0001g0102 a0001c0075t0001g0102	1	250	0.0040	314	c.101 others(335): Show c.10169+1635_10169+1636insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCATGAGCCACCGCGCCCGGCCGCAATAGATTTTT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	52/78			chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(307): Show CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0058 a0002c0003t0058	a0002c0003t0058g0058 a0002c0003t0058g0058	1	296	0.0034	314	c.368 others(331): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC4C_chr11_40109209_41464652	40472454	T T	TAAAGAAG others(307): Show TAAAGAAGTGTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02622.hp2 HG02717.hp1 others(3): Show HG01261.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0002t0001g0024	6	48	0.1250	314	c.-26 others(337): Show c.-269-152734_-269-152733insTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTAAACACTTCTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	3/6			chr11	TogoVar
LUC7L_chr16_183990_234449	186119	G G	GGGAACAG others(307): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	350	0.0029	314	c.30 others(325): Show c.3078_*3079insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCT GTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2870		chr16	TogoVar
LUC7L_chr16_183990_234449	186374	G G	GGAGGAAC others(307): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG AGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	350	0.0029	314	c.28 others(325): Show c.2823_*2824insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2615		chr16	TogoVar
LUC7L_chr16_183990_234449	186408	G G	GGAGGAAC others(307): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	350	0.0029	314	c.27 others(325): Show c.2789_*2790insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2581		chr16	TogoVar
LUC7L_chr16_183990_234449	186680	G G	GGAGGAAC others(307): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG AGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	350	0.0029	314	c.25 others(325): Show c.2517_*2518insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2309		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248742682	C C	TGCTCTGG others(307): Show TGCTCTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATG TTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAG GTTATGCTCTGGTGGGGATGTTGGCAGCCAGGGAGATTATGCTCTGGTGG GGATGTTGGCAGCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCCG GGGAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCT GGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGC AGCCGGGGAGATTAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	374	0.0027	314	c.475 others(331): Show c.475+2460_475+2461insTAATCTCCCCGGCTGCCAACATCCCCAC CAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCC CCCGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGCCAACATC CCCACCAGAGCGTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCATAA TCTCCCTGGCTGCCAACATCCCCACCAGAGCATAACCTCCCCCGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAG CATAATCTCCCCGCTGCCAACATCCCCACCAGAGCA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(307): Show CCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCAC CACCATCACCATCACCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCATCACCACCACCATCACCATCACCACCACC ACCACTACCCTTCACCATCACCACCACCACCACCATCACCATCACCACCA CCATCCACCATCACCACCACCCTTCACCATCACCACCACCCTTCACCACC ACAATGACCATCACTACCACTACCATCACCACCACCACCACGATGACCAT CACTACCACTACCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0026 a0026	a0026c0066 a0026c0066	a0026c0066t0028 a0026c0066t0028	a0026c0066t0028g0131 a0026c0066t0028g0131	1	362	0.0028	314	c.391 others(329): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCA TCACCATCACCACCACCACCACTACCCTTCACCATCACCACCACCACCAC CATCACCATCACCACCACCATCCACCATCACCACCACCCTTCACCATCAC CACCACCCTTCACCACCACAATGACCATCACTACCACTACCATCACCACC ACCACCACGATGACCATCACTACCACTACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K21_chr1_233322724_233390148	233383384	T T	TAAAAGCT others(307): Show TAAAAGCTTTACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAA AAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0110 a0002c0002t0053g0110	1	372	0.0027	314	c.68 others(323): Show c.687_*688insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAA AAAAAAAAAAAAAAAAAAGCTTTACTGA	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	10/10	688	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(307): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0157 a0001c0003t0003g0158	2	180	0.0111	314	c.267 others(331): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT	MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(307): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0027 a0001c0003t0003g0027	1	180	0.0056	314	c.267 others(331): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT	MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(307): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATA TGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATGTG ATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATAT ATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0063 a0001c0001t0010g0063	1	102	0.0098	314	c.-38 others(333): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT ATATGCATCACATGCATATATATATATGCATCACATGCATATATATATAT GCATCACATGCATATATATATGCATCACATGCATATATATATATGCATCA CATGCATATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164124111	C C	CAAAAGAA others(307): Show CAAAAGAAGACATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0101 a0001c0001t0025g0101	1	102	0.0098	314	c.-32 others(335): Show c.-322-12450_-322-12449insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGTATGTCTTCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10422715	T T	TAAAGAAA others(307): Show TAAAGAAATGGGAACATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02559.hp2 HG02622.hp1 others(2): Show HG01358.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0047 a0001c0002t0128 others(1): Show a0001c0002t0036 a0001c0002t0047 a0001c0002t0128 a0001c0002t0129	a0001c0002t0036g0109 a0001c0002t0036g0110 a0001c0002t0047g0119 others(2): Show a0001c0002t0036g0109 a0001c0002t0036g0110 a0001c0002t0047g0119 a0001c0002t0128g0120 a0001c0002t0129g0106	5	284	0.0176	314	c.228 others(333): Show c.2284-1002_2284-1001insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAGAAATGGGAACATTG	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(307): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCT TTCCTTCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	298	0.0034	314	c.52- others(329): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT TCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)