Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
KCNK2_chr1_215077737_215242090	215209588	A A	AATATATA others(302): Show AATATATAAAATAGATATTATATATAAAATATATATAATATATATATAAA ATAGATATTATATATAATATATATTATATAATATATATTATATATTATAT AATATATAATATATATTATATAATATATATTATATATTATATAATATATA ATATATAATATAATATATAATATATATTATATAATATATATTATATATTA TATAATATATATTATATATTATATAATATATAATATATATTATATATTAT ATAATATATAATATATATTATATATTATATATTATATATTATATAAATTA AATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0140 a0001c0002t0018g0140	1	260	0.0039	309	c.963 others(328): Show c.963+14503_963+14504insAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAATATATATTATATAATAT ATATTATATATTATATAATATATAATATATATTATATAATATATATTATA TATTATATAATATATAATATATAATATAATATATAATATATATTATATAA TATATATTATATATTATATAATATATATTATATATTATATAATATATAAT ATATATTATATATTATATAATATATAATATATATTATATATTATATATTA TATATTATATAAATTAAATATATATTATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB4_chr12_70361290_70439292	70395138	T T	TCCAGTAG others(302): Show TCCAGTAGATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	378	0.0027	309	c.337 others(326): Show c.337-5054_337-5053insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCCAGTAGATAATGTTTT	KCNMB4	ENSG00000135643.5	transcript	ENST00000258111.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
KDM4C_chr9_6752973_7180648	7035316	T T	TTGCCCAT others(302): Show TTGCCCATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG03209.hp1 HG02809.hp2 HG02896.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0150 a0003c0004t0001g0105 a0003c0004t0001g0120 a0001c0001t0002g0150 a0003c0004t0001g0105 a0003c0004t0001g0120	3	266	0.0113	309	c.226 others(330): Show c.2260-11535_2260-11534insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGCCCATTCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA0753_chr17_6573147_6645711	6635337	T T	TAAAAGCA others(302): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	370	0.0027	309	c.-68 others(324): Show c.-68-167_-68-166insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTGTGGTTGCTTTT	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	1/18			chr17	TogoVar
KIF13A_chr6_17758693_17992635	17874942	T T	TAATTCAT others(302): Show TAATTCATTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0272 a0001c0003t0001g0272	1	282	0.0036	309	c.160 others(326): Show c.160-1506_160-1505insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGGAATGAATT	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	3/38			chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(302): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAA CGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02293.hp1 NA18942.hp2 others(2): Show HG01975.hp1 HG02293.hp1 NA18942.hp2 NA18971.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0026 a0001c0003t0004 a0001c0003t0026	a0001c0003t0004g0047 a0001c0003t0004g0052 a0001c0003t0004g0059 others(2): Show a0001c0003t0004g0047 a0001c0003t0004g0052 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0026g0182	5	375	0.0133	309	c.317 others(326): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GTGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(302): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGC AAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04115.hp1 NA18906.hp1 HG03579.hp1 HG04115.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0048 a0001c0002 a0001c0022 a0001c0048	a0001c0002t0043 a0001c0022t0055 a0001c0048t0017 a0001c0002t0043 a0001c0022t0055 a0001c0048t0017	a0001c0002t0043g0109 a0001c0022t0055g0137 a0001c0048t0017g0114 a0001c0002t0043g0109 a0001c0022t0055g0137 a0001c0048t0017g0114	3	160	0.0188	309	c.135 others(328): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATC TCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(302): Show TCTGTATTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02148.hp2 NA18941.hp1 HG00544.hp2 HG02148.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0226 a0001c0001t0004g0234 a0001c0001t0008g0198 a0001c0001t0004g0226 a0001c0001t0004g0234 a0001c0001t0008g0198	3	370	0.0081	309	c.65- others(324): Show c.65-7596_65-7595insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGTATTTCTT	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(302): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19068.hp1 HG00544.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0372 a0001c0001t0003g0320 a0001c0001t0003g0372	2	400	0.0050	309	c.997 others(326): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAG others(302): Show TGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGG GAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG ATGGAAACAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01175.hp1 others(16): Show HG00733.hp2 HG01074.hp2 HG01175.hp1 HG01433.hp2 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02451.hp1 HG02717.hp2 HG02886.hp2 HG03516.hp2 HG03710.hp1 HG04199.hp2 NA18906.hp1 NA18981.hp2 NA18997.hp1 NA19060.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0004 a0001c0001t0015 a0001c0001t0025 others(5): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0025 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0005t0023 a0003c0004t0049	a0001c0001t0004g0018 a0001c0001t0004g0235 a0001c0001t0004g0236 others(16): Show a0001c0001t0004g0018 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0271 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0283 a0001c0001t0015g0272 a0001c0001t0015g0309 a0001c0001t0025g0240 a0001c0001t0025g0275 a0001c0001t0025g0286 a0001c0001t0063g0292 a0001c0001t0064g0248 a0001c0001t0077g0282 a0001c0005t0023g0234 a0003c0004t0049g0274	19	368	0.0516	309	c.353 others(326): Show c.353-1253_353-1252insTGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(302): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACT CTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	370	0.0027	309	c.-27 others(320): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149589	T T	TCACATCC others(302): Show TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCACA CCACAGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	308	0.0033	309	c.67 others(320): Show c.6799_*6800insCACATCCCTCTCCTCACACACCACACAGCCCACA CCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCC TCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGC CCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACC CCTCTCCTCCTCACACCACAGAGCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3998		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149624	T T	TCCCTCTC others(302): Show TCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTCACACCACA CAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACCACACAGCCCAC ACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCCCACACCCCTCTCCTCACACCACACAGCTCACACCCCT GTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACA GAGCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	308	0.0033	309	c.68 others(320): Show c.6834_*6835insCCCTCTCCTCCTCACACCACACAGCCCACACCCC TCTCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACA GCTCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACCAC ACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCT CCTCCTCACACCACAGAGCCCACAC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4033		chr1	TogoVar
LIN52_chr14_74079956_74206493	74200229	T T	TATGGTGA others(302): Show TATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGG TGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAAATAA ATAAAAAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAGCACT TTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGACCAG CCTGGCCAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(117): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18962.hp2 NA18967.hp1 NA18984.hp1 NA18988.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0002c0003t0018 a0002c0003t0044	a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0152 others(116): Show a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0310 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0330 a0001c0001t0008g0003 a0001c0001t0008g0296 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0309 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0008g0313 a0001c0001t0008g0327 a0001c0001t0008g0329 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0001t0008g0333 a0001c0001t0008g0334 a0001c0001t0017g0314 a0001c0001t0017g0321 a0001c0001t0017g0322 a0001c0001t0018g0085 a0001c0001t0018g0271 a0001c0001t0023g0337 a0001c0001t0023g0343 a0001c0001t0041g0298 a0001c0001t0042g0302 a0001c0001t0043g0249 a0002c0003t0018g0201 a0002c0003t0044g0187	120	354	0.3390	309	c.12 others(320): Show c.1263_*1264insTCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAA ATAAATAAAAAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAG CACTTTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGA CCAGCCTGGCCAACATGGTGAAACC	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	6/6	1264	INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN52_chr14_74079956_74206493	74200229	T T	TATGGTGA others(302): Show TATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGG TGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAAATAA ATAAATAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAGCACT TTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGACCAG CCTGGCCAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03669.hp2 HG03492.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0229 a0001c0001t0024g0230 a0001c0001t0024g0229 a0001c0001t0024g0230	2	354	0.0057	309	c.12 others(320): Show c.1263_*1264insTCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAA ATAAATAAATAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAG CACTTTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGA CCAGCCTGGCCAACATGGTGAAACC	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	6/6	1264	INFO_REALIGN_3_PRIME	chr14	TogoVar
LOC102723971_chr9_135609183_135624893	135620055	A A	ACTCCCCC others(302): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCTG TCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCC TTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTC CCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCT TCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	450	0.0022	309	c.11 others(320): Show c.1103_*1104insCTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCA GTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCC CTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCT CCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCC TTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTTTT CCCCCTACTCCCCCTTCTCCCCCAT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		163		chr9	TogoVar
LOC122319696_chrX_149409877_149420506	149418501	T T	TATATATA others(302): Show TATATATAATATATATTATATTATATATATATCATATATATAATATATAT TATATTATATATATATCATATATATAATATATATTATATTATATATATAT CATATATATAATATATATTATATTATATATATATCATATATATAATATAT ATTATATTATATATATATCATATATATAATATATATTATATTATATATAT ATCATATATATAATATATATTATATTATATATATATCATATATATAATAT ATATTATATTATATATATATCATATATATAATATATATTATATTATATAT ATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	313	0.0032	309	c.-30 others(320): Show c.-3025_-3024insTATATTATATATATATAATATAATATATATTATA TATATGATATATATATAATATAATATATATTATATATATGATATATATAT AATATAATATATATTATATATATGATATATATATAATATAATATATATTA TATATATGATATATATATAATATAATATATATTATATATATGATATATAT ATAATATAATATATATTATATATATGATATATATATAATATAATATATAT TATATATATGATATATATATAATATAATATATATTATATATATGATATAT ATATAATATAATATATATTATATAT	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2996		chrX	TogoVar
LOC122526780_chr17_6631780_6645316	6635337	T T	TAAAAGCA others(302): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	428	0.0023	309	c.14 others(320): Show c.1442_*1443insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACC ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGTGTGGTTGCTTTT	LOC122526780	ENSG00000282936.3	transcript	ENST00000713584.1	protein_coding		1442		chr17	TogoVar
LOC122539214_chr19_52645447_52695496	52660439	T T	TGAAATCC others(302): Show TGAAATCCTGTCTCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCCAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0006 a0004c0008t0005 a0001c0001t0006 a0004c0008t0005	a0001c0001t0006g0241 a0004c0008t0005g0191 a0004c0008t0005g0192 a0001c0001t0006g0241 a0004c0008t0005g0191 a0004c0008t0005g0192	3	452	0.0066	309	c.63+ others(322): Show c.63+322_63+323insTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTGGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTAGAGACAGGATTTC	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	2/3			chr19	TogoVar
LOC122539214_chr19_52645447_52695496	52660439	T T	TGAAATCC others(302): Show TGAAATCCTGTCTCTAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGAGATCGAGACC ATCCCGGCCAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0012 a0007c0006t0012	a0007c0006t0012g0081 a0007c0006t0012g0081	1	452	0.0022	309	c.63+ others(322): Show c.63+322_63+323insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTGGCCGGGATGGTCTCGATCTCTTGACCTTGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCA CCGCGCCCGGCCTAGAGACAGGATTTC	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	2/3			chr19	TogoVar
LOC128462377_chr16_89312046_89423292	89341900	A A	ACCCACAG others(302): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCACTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0008 a0001c0001t0000g0008	1	366	0.0027	309	c.10- others(326): Show c.10-24826_10-24825insCAGTGGAGGTGCAGCACTCCCGCCGTGG GCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGT GGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTG TTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGC AGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGG TGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAG CACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRBA_chr4_150259435_151020284	150372750	G G	GCAGTAAG others(302): Show GCAGTAAGTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTGTTT AGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG02071.hp1 HG02523.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0009 a0003c0004t0003 a0003c0004t0009	a0003c0004t0003g0066 a0003c0004t0009g0157 a0003c0004t0003g0066 a0003c0004t0009g0157	2	180	0.0111	309	c.719 others(330): Show c.7195-22592_7195-22591insGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTC CGTCTCAAAAAAAAAAAAAAAAAAAGAACTTACTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRRC4C_chr11_40109209_41464652	40776000	C C	CAAAAGGA others(302): Show CAAAAGGATTTTCTGTACACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGAGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 NA20300.hp2 HG02965.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0044	3	48	0.0625	309	c.-40 others(332): Show c.-406-127723_-406-127722insTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGTACAGAAAATCCTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LUC7L_chr16_183990_234449	187122	G G	GAGGAACA others(302): Show GAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	350	0.0029	309	c.20 others(320): Show c.2075_*2076insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1867		chr16	TogoVar
LUC7L_chr16_183990_234449	187139	G G	GAGGAACA others(302): Show GAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	350	0.0029	309	c.20 others(320): Show c.2058_*2059insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1850		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(302): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATTATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTATATATAATATAATTATATAATATATAATTTATATATAATA TAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	309	c.-31 others(320): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(302): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp2 HG03516.hp2 others(2): Show HG02572.hp1 HG02970.hp2 HG03516.hp2 NA18522.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 others(1): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0032	a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0012g0226 others(2): Show a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0012g0226 a0001c0001t0014g0230 a0001c0001t0032g0227	5	360	0.0139	309	c.-15 others(326): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MELK_chr9_36567895_36682682	36645304	T T	TGAAAAAG others(302): Show TGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04204.hp1 NA19011.hp1 HG02698.hp2 HG04204.hp1 NA19011.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0193 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0193	3	242	0.0124	309	c.921 others(326): Show c.921+2233_921+2234insTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCGAAAAAGTCTTT	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MLPH_chr2_237482251_237560322	237543299	T T	TGGGCACG others(302): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTAATGAG TCGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACA TTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0003 a0016c0025t0003	a0016c0025t0003g0270 a0016c0025t0003g0270	1	286	0.0035	309	c.153 others(326): Show c.1539+643_1539+644insCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCATGGTAGTG AGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGGAT GGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACATTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544456	G G	GACAGTGG others(302): Show GACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGTACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	286	0.0035	309	c.153 others(328): Show c.1539+1802_1539+1803insGGCAAGTGGGCACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGG CACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGG GGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGTACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGTACAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGGTGTT others(302): Show GGGGTGTTGGGGGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGG GGGACCTGGGGGTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTG GAGGTGGAGGGAGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTT AGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTT GGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTG GGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGG AGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0293 a0001c0004t0002g0293	1	382	0.0026	309	c.-80 others(318): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCC ACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAA CCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACC CCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCCC CCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTCC ACTCCCTCCACCCCCCAACACCC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MMS22L_chr6_97137161_97288216	97220693	T T	TAAAAAGA others(302): Show TAAAAAGAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02647.hp2 others(1): Show HG02145.hp1 HG02280.hp2 HG02647.hp2 HG02818.hp1	a0005 a0005	a0005c0008 a0005c0009 a0005c0008 a0005c0009	a0005c0008t0040 a0005c0008t0041 a0005c0009t0018 a0005c0008t0040 a0005c0008t0041 a0005c0009t0018	a0005c0008t0040g0003 a0005c0008t0041g0002 a0005c0009t0018g0004 others(1): Show a0005c0008t0040g0003 a0005c0008t0041g0002 a0005c0009t0018g0004 a0005c0009t0018g0066	4	292	0.0137	309	c.203 others(328): Show c.2039+8200_2039+8201insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTACCCTTTCTTTTT	MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	14/24			chr6	TogoVar
MOSPD2_chrX_14868421_14927327	14899114	T T	TGAACTAG others(302): Show TGAACTAGAAAGTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	268	0.0075	309	c.478 others(326): Show c.478-1444_478-1443insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTT TTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCGAACTAGAAAGTCTTTC	MOSPD2	ENSG00000130150.12	transcript	ENST00000380492.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(302): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCCC CATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0133 a0001c0027t0001g0133	1	256	0.0039	309	c.241 others(328): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767540	G G	GCGTGGAG others(302): Show GCGTGGAGGGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAG GGGCGAGCGGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGG CGCGTGGAGGGGGTGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTG GAGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC GCGTGGAGGGGGCACGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCG TGGGGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	388	0.0026	309	c.159 others(324): Show c.1596+83_1596+84insGGCGAGTGGAGGAGCCCCGGTGGAGGGGCG CGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTG GAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAG GAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGGGGCGAGCGGGAGGAGGGG CGCGTGGAGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGCGCGTGGAGGGGGCACGTGGGGGGGTGTGGAGGGGGGCGCGTGGG GGTGCGTGGGGGGGCACGTGGAGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTRR_chr5_7864148_7906113	7864812	G G	GAAAAAAA others(302): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0004 a0010c0013t0004	a0010c0013t0004g0052 a0010c0013t0004g0294 a0010c0013t0004g0052 a0010c0013t0004g0294	2	428	0.0047	309	c.-44 others(320): Show c.-4429_-4428insAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding		4335		chr5	TogoVar
MTRR_chr5_7864148_7906113	7864812	G G	GAAAAAAA others(302): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0005 a0011c0012t0005	a0011c0012t0005g0293 a0011c0012t0005g0293	1	428	0.0023	309	c.-44 others(320): Show c.-4429_-4428insAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding		4335		chr5	TogoVar
MYO10_chr5_16656907_16941288	16716504	T T	TAAGAAGT others(302): Show TAAGAAGTATGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0148 a0004c0004t0148	a0004c0004t0148g0014 a0004c0004t0148g0014	1	272	0.0037	309	c.193 others(328): Show c.1930-5260_1930-5259insTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTT TTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTCATACTTCTT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(302): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTT CCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03942.hp2 NA18969.hp1 others(1): Show HG02572.hp2 HG03942.hp2 NA18969.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0017 a0001c0003 a0001c0006 a0001c0017	a0001c0003t0001 a0001c0006t0003 a0001c0006t0007 others(1): Show a0001c0003t0001 a0001c0006t0003 a0001c0006t0007 a0001c0017t0005	a0001c0003t0001g0094 a0001c0006t0003g0027 a0001c0006t0007g0098 others(1): Show a0001c0003t0001g0094 a0001c0006t0003g0027 a0001c0006t0007g0098 a0001c0017t0005g0097	4	104	0.0385	309	c.153 others(326): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64173646	T T	TAGTTGTG others(302): Show TAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCC CTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG02622.hp1 others(5): Show HG00099.hp2 HG00673.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0003t0022	a0001c0001t0001g0049 a0001c0001t0003g0090 a0001c0001t0003g0102 others(5): Show a0001c0001t0001g0049 a0001c0001t0003g0090 a0001c0001t0003g0102 a0001c0002t0002g0077 a0001c0002t0002g0089 a0001c0002t0005g0099 a0001c0002t0006g0132 a0001c0003t0022g0053	8	223	0.0359	309	c.-99 others(326): Show c.-99+8907_-99+8908insAGTTGTGTCCATTTCCCCTCCCTGACTT CTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGA CTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCC CCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGCAGCATCTTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64173646	T T	TAGTTGTG others(302): Show TAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCC CTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	223	0.0045	309	c.-99 others(326): Show c.-99+8907_-99+8908insAGTTGTGTCCATTTCCCCTCCCTGACTT CTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGA CTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGCAGCATCTTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(302): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGAGAGAG GAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGGAGGGAGGAGGGAG GGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18950.hp2 NA18999.hp1 HG04199.hp1 NA18950.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0015 a0001c0002t0003 a0001c0002t0015	a0001c0002t0003g0126 a0001c0002t0003g0188 a0001c0002t0015g0111 a0001c0002t0003g0126 a0001c0002t0003g0188 a0001c0002t0015g0111	3	348	0.0086	309	c.887 others(326): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCT CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCC GCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTT CCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(302): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGA GGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGA GGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAG GAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAG GAGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02109.hp2 others(5): Show HG01261.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0007 a0001c0023 a0003c0013 others(2): Show a0001c0007 a0001c0023 a0003c0013 a0003c0015 a0008c0032	a0001c0007t0026 a0001c0007t0051 a0001c0023t0014 others(4): Show a0001c0007t0026 a0001c0007t0051 a0001c0023t0014 a0003c0013t0010 a0003c0013t0081 a0003c0015t0010 a0008c0032t0010	a0001c0007t0026g0206 a0001c0007t0026g0346 a0001c0007t0051g0246 others(5): Show a0001c0007t0026g0206 a0001c0007t0026g0346 a0001c0007t0051g0246 a0001c0023t0014g0072 a0003c0013t0010g0017 a0003c0013t0081g0035 a0003c0015t0010g0122 a0008c0032t0010g0040	8	348	0.0230	309	c.887 others(326): Show c.887-6680_887-6679insGTCCCTCCTCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCCTCCTCCC GCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTT CCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAM2_chr21_20993409_21548329	21265029	G G	GTGTATAT others(302): Show GTGTATATATACACATATATATTATATATGTGTATGTGTATATATACACA TATATATTATATATGTGTATGTGTATATATACACATATATATTATATATG TGTATGTGTATATATATACACATATATATTATATATGTGTATGTGTATAT ATACACATATATATTATATATGTGTATGTGTATATATATACACATATATA TTATATATGTGTATATGTATATATACACATATATATATGTGTCTGTATAT ATATACACATATATATTATATATATGTGTCTGTGTATATATATACACATA TATATGTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0004 a0001c0001t0027g0066 a0001c0001t0002g0004 a0001c0001t0027g0066	2	132	0.0152	309	c.56- others(326): Show c.56-15540_56-15539insACACATATATATTATATATGTGTATGTG TATATATACACATATATATTATATATGTGTATGTGTATATATACACATAT ATATTATATATGTGTATGTGTATATATATACACATATATATTATATATGT GTATGTGTATATATACACATATATATTATATATGTGTATGTGTATATATA TACACATATATATTATATATGTGTATATGTATATATACACATATATATAT GTGTCTGTATATATATACACATATATATTATATATATGTGTCTGTGTATA TATATACACATATATATGTGTCTGTATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFA5_chr7_123531997_123562818	123554488	A A	ACAATTTA others(302): Show ACAATTTATAAGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0058 a0001c0001t0026g0058	1	414	0.0024	309	c.66+ others(324): Show c.66+2915_66+2916insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAACTTATAAATTG	NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding	2/4			chr7	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00609.hp1 others(46): Show HG00140.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01361.hp2 HG01515.hp2 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02723.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03942.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19089.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0006 a0002c0008 a0002c0009 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 a0001c0002t0003 a0001c0002t0012 a0001c0003t0005 a0001c0004t0004 a0001c0005t0006 a0001c0005t0007 a0001c0007t0001 a0002c0006t0001 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0008t0004 a0002c0009t0005 a0002c0015t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 others(46): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0005g0258 a0001c0001t0006g0013 a0001c0001t0006g0083 a0001c0001t0006g0108 a0001c0001t0006g0275 a0001c0001t0007g0092 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0107 a0001c0001t0033g0106 a0001c0002t0003g0352 a0001c0002t0012g0225 a0001c0003t0005g0113 a0001c0004t0004g0072 a0001c0004t0004g0080 a0001c0004t0004g0090 a0001c0004t0004g0099 a0001c0004t0004g0138 a0001c0004t0004g0226 a0001c0005t0006g0105 a0001c0005t0007g0227 a0001c0007t0001g0098 a0002c0006t0001g0075 a0002c0006t0001g0103 a0002c0006t0006g0018 a0002c0006t0006g0074 a0002c0006t0006g0076 a0002c0006t0006g0095 a0002c0006t0007g0031 a0002c0006t0008g0096 a0002c0006t0008g0111 a0002c0006t0008g0124 a0002c0008t0004g0069 a0002c0008t0004g0073 a0002c0008t0004g0078 a0002c0008t0004g0079 a0002c0008t0004g0081 a0002c0008t0004g0082 a0002c0008t0004g0091 a0002c0009t0005g0077 a0002c0015t0001g0110	49	362	0.1354	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp1 others(6): Show HG02055.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0002t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0011 a0001c0003t0010	a0001c0001t0002g0152 a0001c0001t0009g0245 a0001c0002t0011g0133 others(6): Show a0001c0001t0002g0152 a0001c0001t0009g0245 a0001c0002t0011g0133 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0146 a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0149	9	362	0.0249	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0034 a0001c0005t0001 a0001c0002t0034 a0001c0005t0001	a0001c0002t0034g0360 a0001c0005t0001g0050 a0001c0002t0034g0360 a0001c0005t0001g0050	2	362	0.0055	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20300.hp1 HG02818.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0016 a0001c0001t0007 a0001c0005t0016	a0001c0001t0007g0247 a0001c0005t0016g0248 a0001c0001t0007g0247 a0001c0005t0016g0248	2	362	0.0055	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp1 HG02257.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0001 a0001c0001t0006 a0001c0005t0001	a0001c0001t0006g0249 a0001c0005t0001g0117 a0001c0001t0006g0249 a0001c0005t0001g0117	2	362	0.0055	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)