Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(196): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCATCACCATCACCACCATCACCACCACCACCA CCAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18983.hp1 NA18980.hp2 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0279 a0001c0003t0003g0306 a0001c0003t0003g0279 a0001c0003t0003g0306	2	330	0.0061	203	c.691 others(218): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGATGGT GATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGTGAT GGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGG TGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(196): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAG GGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGAG GAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0033 a0009c0031t0033	a0009c0031t0033g0058 a0009c0031t0033g0058	1	270	0.0037	203	c.178 others(218): Show c.1785+95_1785+96insAGGGGGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGG GGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCA GGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGG GCACAGGGGAGCTGGTGGCGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(196): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0187 a0002c0003t0004g0187	1	270	0.0037	203	c.178 others(220): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCGGGGAGGAGGGGGCAGGTGGGGCACA GGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	A A	AATAAACT others(196): Show AATAAACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT AAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTAT ATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATATATAA ACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTTAAACT ATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG04184.hp1 NA19086.hp2 HG01975.hp1 HG04184.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0142	3	342	0.0088	203	c.208 others(220): Show c.208-7408_208-7206dupAAACTATATATAAACTATTATATATAGT TAAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTA TATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATATATA AACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTTAAAC TATATATAAACTATTATATATAGTT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0930_chr22_45187244_45245894	45228745	C C	CCACCAAA others(196): Show CCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAAC ACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAACCACTCACCTG AGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT TCACCCCCCTACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCG CCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	2	398	0.0050	203	c.64+ others(220): Show c.64+11894_64+11895insATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTAGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGT GATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGTGGTTGGGG GGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAG GGATCTCTCAGGTGAGTGTTTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240786778	A A	ACCCCTGA others(196): Show ACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGG GTGGGGGCTGCCATCAGGAACCCTGAGTGAGAGGGTGGGGGCTGCCTGCT GGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAG GGTGGGGGCCAGTATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGC TGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0216 a0002c0002t0006g0216	1	330	0.0030	203	c.430 others(218): Show c.430-266_430-265insCCCAGCAGGCAGCCCCCACCCTCTCACTCA GGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGG CCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCTCTCACTC AGGGTTCCTGATGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTG GCCCCTACCCTCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KLHDC4_chr16_87702812_87770986	87739111	C C	CCTCATCC others(196): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCA GCAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0285 a0002c0002t0001g0285	1	380	0.0026	203	c.507 others(220): Show c.507-8468_507-8467insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739131	G G	GCACCTCA others(196): Show GCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCA CACACCAGCATCTCATCCATCCACACACCAGCATCTCATCCATCCACACA CCAC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	380	0.0026	203	c.507 others(220): Show c.507-8488_507-8487insGTGGTGTGTGGATGGATGAGATGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LDLRAD4_chr18_13213760_13657751	13494662	A A	AGTGAGAC others(196): Show AGTGAGACTCCATCTCCACTAAAATATATATATATATAAAATATTATATT TATATATTATATATATAATATATATATAATATTATTTTATATATATTATA TATATAATATTATATATATAATATATATAATATAATATTATATATATTAT ATATATAATATATATAATATAATATTATATATATTATATATATAAAATTA TATT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	178	0.0056	203	c.181 others(222): Show c.181+56278_181+56279insGTGAGACTCCATCTCCACTAAAATAT ATATATATATAAAATATTATATTTATATATTATATATATAATATATATAT AATATTATTTTATATATATTATATATATAATATTATATATATAATATATA TAATATAATATTATATATATTATATATATAATATATATAATATAATATTA TATATATTATATATATAAAATTATATT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATAAA others(196): Show TATATAAAATATATATAATATATATTATATATAAAATATATATAATATAT ATTATATATAAAATATATAATATATATTATATAAAATATATATAATATAT ATTATATATAAAATATATAATATATATTATATAAAATATATAATATATAT TATATAAAATATATAATATATATTATATATAAAATATATAATATATTATA TAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp1 HG01884.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0295 a0001c0001t0002g0296	2	314	0.0064	203	c.42+ others(216): Show c.42+347_42+348insAAATATATATAATATATATTATATATAAAATA TATATAATATATATTATATATAAAATATATAATATATATTATATAAAATA TATATAATATATATTATATATAAAATATATAATATATATTATATAAAATA TATAATATATATTATATAAAATATATAATATATATTATATATAAAATATA TAATATATTATATAAAATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	936103	T T	TGGCTGAG others(196): Show TGGCTGAGGAAGGAGGCTGGGAGGGAGAGAGGGCACCCCGTGGGCTGAGG AAGGAGGCTGGGAGGGAGAGAGGGCACCCCGTGGGCTGAGGAAGGTGGCT GGGAGAGAGAGGGGGCACCGTGTGGGCTGAGGAAGGAGGCTAGGAGAGAG GGGATACCCCGTGGGCTGAGGAAGCAGGCTGGGAGGGAGAGAGGGCACCC CGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0268 a0001c0022t0001g0268	1	294	0.0034	203	c.504 others(220): Show c.504-1850_504-1849insCACGGGGTGCCCTCTCTCCCTCCCAGCC TGCTTCCTCAGCCCACGGGGTATCCCCTCTCTCCTAGCCTCCTTCCTCAG CCCACACGGTGCCCCCTCTCTCTCCCAGCCACCTTCCTCAGCCCACGGGG TGCCCTCTCTCCCTCCCAGCCTCCTTCCTCAGCCCACGGGGTGCCCTCTC TCCCTCCCAGCCTCCTTCCTCAGCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(196): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATATTATTATAT GTATATAAATATATATATTTATTAATATATATAAATATATATATTTATTA ATAATATATATAATATATATATAATATATAATATATAATATATAATATAT ATTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	316	0.0032	203	c.622 others(218): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATATTATTATATGTATATAAATATATATATTTATTAATATATA TAAATATATATATTTATTAATAATATATATAATATATATATAATATATAA TATATAATATATAATATATATTT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(196): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATTATTATATAT ATATAAATATATATATTTATTAATATATATATAAATATATATATTTATTA ATAATATATATAATATATATATAATATATAATATATAATATATAATATAT ATTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19059.hp2 NA19089.hp2 others(1): Show NA18950.hp1 NA19059.hp2 NA19089.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0200 a0002c0002t0002g0206 others(1): Show a0002c0002t0002g0183 a0002c0002t0002g0200 a0002c0002t0002g0206 a0002c0002t0002g0207	4	316	0.0127	203	c.622 others(218): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATATATATAAATATATATATTTATTAATATATATA TAAATATATATATTTATTAATAATATATATAATATATATATAATATATAA TATATAATATATAATATATATTT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867164	G G	GGTGTGTG others(196): Show GGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGT GGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGG GGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTGT GTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG03471.hp2 others(1): Show HG00738.hp2 HG01346.hp1 HG03471.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0199 a0001c0001t0001g0281 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0199 a0001c0001t0001g0281 a0001c0001t0003g0065	4	408	0.0098	203	c.130 others(220): Show c.1309-185_1309-184insTGTTGGGGGGTGGGGTGTGTGTGTGTGT GGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGT GGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTT GGGGGGTGGGGTGTGTGTGTGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LY75_chr2_159798355_159909756	159873772	C C	CATATAGT others(196): Show CATATAGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATA AACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAA TACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTT TGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGT ATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0041 a0041	a0041c0049 a0041c0049	a0041c0049t0001 a0041c0049t0001	a0041c0049t0001g0224 a0041c0049t0001g0224	1	330	0.0030	203	c.197 others(222): Show c.1975-1180_1975-1179insATATACGTTTATATGTATTTTTACAA AATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTAT TTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTT ATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATAT ATACGTTTATATGTATTTTTACTATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(196): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTT CTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	436	0.0023	203	c.40 others(214): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGG AAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAEA_chr4_1284891_1345137	1335860	T T	TCAGAGTT others(196): Show TCAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTA AGTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTAAGTCAGCAC CTGCCCTGCAGTGTGTTGAAATCAGAGTTAAGTCAGCACCTGCCCTGCAG TGTGTTGAAATCACAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAA ATCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	388	0.0026	203	c.766 others(218): Show c.766-959_766-757dupCAGAGTTAAGTCAGCACCTGCCCTGCAGTG TGTTGAAATCACAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAAAT CAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTAA GTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTAAGTCAGCACC TGCCCTGCAGTGTGTTGAAATCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(196): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATATTAATATAT ATTAATATATATTAATATATATATTAATATATATTAATTATATATATTAA TTATATATATTAATATATATTAATTATATATATTAATTATATATATTTAT ATAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	236	0.0042	203	c.316 others(222): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATATTAATATATATTAATATATATTAATATATATATTAAT ATATATTAATTATATATATTAATTATATATATTAATATATATTAATTATA TATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(196): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATATAACTATATATTAATTATATATATTAATATAT ATTAATATATATTAATATATATATTAATATATATTAATTATATATATTAA TTATATATATTAATATATATTAATTATATATATTAATTATATATATTTAT ATAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0134 a0001c0001t0010g0134	1	236	0.0042	203	c.316 others(222): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATATAACTATATA TTAATTATATATATTAATATATATTAATATATATTAATATATATATTAAT ATATATTAATTATATATATTAATTATATATATTAATATATATTAATTATA TATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGAGAGAG others(196): Show GGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGGAGAGGGGGGGGGGGAGGGGGGGGGAGAGGGGGGAGGGGGAGAGGGGG AGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGGA GGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGG GGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	163	0.0061	203	c.525 others(220): Show c.525+8478_525+8479insTCCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCTCCCCCCTCTCCCCCCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCTC CCCCCCCCTCCCCCCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCTCCCCTCCCCCCTCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCO_chr2_118937194_118999660	118972995	A A	AACTCTCT others(196): Show AACTCTCTCTCTCCATGTCTCTCTCTCTGTCTCTCTGAATATAGATGTAT GTACATAGAGAAAAACTCCAACTCTCTCTCTCCATGTCTCTCTCTCTGTC TCTCTGAATATAGATGTATGTACATAGAGAAAAACTCCGACTCTCTCCAT GTCTCTCTCTCTGTCTCTCTGAATATAGATGTATGTACACAGAGAAAAAC TCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0298	1	394	0.0025	203	c.461 others(220): Show c.461-1136_461-1135insCACTCTCTCTCTCCATGTCTCTCTCTCT GTCTCTCTGAATATAGATGTATGTACATAGAGAAAAACTCCAACTCTCTC TCTCCATGTCTCTCTCTCTGTCTCTCTGAATATAGATGTATGTACATAGA GAAAAACTCCGACTCTCTCCATGTCTCTCTCTCTGTCTCTCTGAATATAG ATGTATGTACACAGAGAAAAACTCC	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEGF11_chr15_65890299_66258750	66212004	T T	TAGCTGAG others(196): Show TAGCTGAGCAGAGTTGCTCTCAGCTCCAGTTCTCGTTGGGCTCCTGCGAC CCTTCTGCTTGTGGCAGGGCAGGACTGTGGGAATCCACAAGCAATGTGAA AACACTCAGGACTTTGCAATGGTGGGAAGACATCACCATGACAAGTCCTG AAGGGCAAAGAGAAGAGAGAAGCAGAAGGGTCGCAGGAGCCCTGCGAGAA CTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18952.hp1 NA18952.hp2 NA18993.hp1 NA18993.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0014	a0001c0001 a0001c0010 a0001c0019 others(16): Show a0001c0001 a0001c0010 a0001c0019 a0001c0021 a0001c0022 a0002c0002 a0002c0005 a0002c0015 a0002c0016 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0008c0009 a0009c0013 a0010c0014 a0013c0020 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0010t0001 a0001c0019t0001 a0001c0021t0008 a0001c0022t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0015 a0002c0005t0001 a0002c0005t0002 a0002c0015t0014 a0002c0016t0001 a0003c0003t0003 a0003c0003t0016 a0004c0004t0003 a0005c0006t0001 a0005c0006t0003 a0006c0007t0002 a0006c0007t0007 a0007c0008t0001 a0008c0009t0001 a0009c0013t0001 a0010c0014t0013 a0013c0020t0007 a0014c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0004g0038 a0001c0001t0004g0045 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0089 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0005g0009 a0001c0001t0005g0023 a0001c0001t0005g0133 a0001c0001t0005g0136 a0001c0001t0006g0046 a0001c0001t0006g0076 a0001c0001t0008g0175 a0001c0001t0009g0008 a0001c0001t0017g0172 a0001c0010t0001g0093 a0001c0019t0001g0021 a0001c0021t0008g0165 a0001c0022t0010g0094 a0002c0002t0001g0005 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0055 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0073 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0004g0142 a0002c0002t0005g0132 a0002c0002t0006g0091 a0002c0002t0007g0134 a0002c0002t0008g0156 a0002c0002t0009g0087 a0002c0002t0011g0061 a0002c0002t0015g0169 a0002c0005t0001g0012 a0002c0005t0002g0152 a0002c0015t0014g0168 a0002c0016t0001g0002 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0102 a0003c0003t0003g0105 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0016g0155 a0004c0004t0003g0074 a0004c0004t0003g0080 a0004c0004t0003g0109 a0004c0004t0003g0122 a0005c0006t0001g0030 a0005c0006t0003g0007 a0006c0007t0002g0170 a0006c0007t0007g0075 a0007c0008t0001g0016 a0007c0008t0001g0138 a0008c0009t0001g0003 a0008c0009t0001g0004 a0009c0013t0001g0114 a0010c0014t0013g0029 a0013c0020t0007g0104 a0014c0018t0001g0034	161	176	0.9148	203	c.-9+ others(220): Show c.-9+41600_-9+41601insCCAGTTCTCGCAGGGCTCCTGCGACCCT TCTGCTTCTCTCTTCTCTTTGCCCTTCAGGACTTGTCATGGTGATGTCTT CCCACCATTGCAAAGTCCTGAGTGTTTTCACATTGCTTGTGGATTCCCAC AGTCCTGCCCTGCCACAAGCAGAAGGGTCGCAGGAGCCCAACGAGAACTG GAGCTGAGAGCAACTCTGCTCAGCT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66212004	T T	TAGGTGAG others(196): Show TAGGTGAGCAGAGTTGCTCTCAGCTCCAGTTCTCGTTGGGCTCCTGCGAC CCTTCTGCTTGTGGCAGGGCAGGACTGTGGGAATCCACAAGCAATGTGAA AACACTCAGGACTTTGCAATGGTGGGAAGACATCACCATGACAAGTCCTG AAGGGCAAAGAGAAGAGAGAAGCAGAAGGGTCGCAGGAGCCCTGCGAGAA CTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01167.hp1 others(11): Show HG00597.hp1 HG00735.hp1 HG01167.hp1 HG01433.hp1 HG01516.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG03453.hp2 NA19066.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0012 a0011c0011	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0002c0005t0001 a0002c0012t0001 a0011c0011t0001	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0112 others(11): Show a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0004g0047 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0068 a0002c0002t0001g0084 a0002c0002t0006g0066 a0002c0002t0012g0127 a0002c0005t0001g0049 a0002c0012t0001g0126 a0011c0011t0001g0051	14	176	0.0796	203	c.-9+ others(220): Show c.-9+41600_-9+41601insCCAGTTCTCGCAGGGCTCCTGCGACCCT TCTGCTTCTCTCTTCTCTTTGCCCTTCAGGACTTGTCATGGTGATGTCTT CCCACCATTGCAAAGTCCTGAGTGTTTTCACATTGCTTGTGGATTCCCAC AGTCCTGCCCTGCCACAAGCAGAAGGGTCGCAGGAGCCCAACGAGAACTG GAGCTGAGAGCAACTCTGCTCACCT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGT others(196): Show TCCCCAGTGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCT GGGGAGACCCAGCACCTCCGCAGAACCCCTCCTCAGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACCCCTCCTCAGCC CGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0040 a0040	a0040c0068 a0040c0068	a0040c0068t0032 a0040c0068t0032	a0040c0068t0032g0274 a0040c0068t0032g0274	1	292	0.0034	203	c.481 others(220): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGAGGAGGG GTTCTGCGGAGGTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTC CTGCCCACTCCACGTTCCACTGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090345	C C	CCCCCACA others(196): Show CCCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGC CCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACA CACCCCCCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACA CACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0010	2	399	0.0050	203	c.557 others(220): Show c.557-2821_557-2820insCCCACACACACACCCCGCCCCACACACA CACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCGCCCCACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACACCCCCCCCCACACACACCCCGCCCCACA CACACACCCCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(196): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCGCCCCAGGGTGGGAGCC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0332 a0001c0001t0015g0332	1	399	0.0025	203	c.557 others(220): Show c.557-2656_557-2655insCGCCCCGCCCCAGGGTGGGAGCCACACA CCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACAC ACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACC CCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(196): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	399	0.0025	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCG CCCCACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(196): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0175 a0001c0009t0001g0175	1	399	0.0025	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCCACACACCCCC GCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACA CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCG CCCCACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090505	C C	CCCCCCCG others(196): Show CCCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCC CCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACA CACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACA CACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0271 a0001c0003t0002g0271	1	399	0.0025	203	c.557 others(220): Show c.557-2662_557-2661insCCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACAC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACA CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACA	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3			chr17	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(196): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AGCCACACACACACACACCCCCCCACACACACACCCCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	399	0.0025	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACACACCCCCCCACACACACACCCCCC GCCCCACACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(196): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AGCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	399	0.0025	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(196): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACAGCCGGGAGCTATAGAAACACCGCCCGG AGCTGTAGAAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAA CACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	384	0.0026	203	c.984 others(220): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCGGTGTTTCTATAGCTCCC GGCTGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTC TATAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTTTCTGCAGCTCC GGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(196): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACAGCCGGGAGCTATAGAAACACGGCCCGG AGCTGTAGAAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAA CACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01081.hp2 others(46): Show HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18951.hp2 NA18961.hp2 NA18971.hp2 NA18975.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19081.hp2 NA19090.hp2 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0001c0022 a0008c0026	a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 others(4): Show a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 a0001c0011t0002 a0001c0014t0002 a0001c0022t0002 a0008c0026t0002	a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 others(44): Show a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0003t0002g0014 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0166 a0001c0005t0002g0012 a0001c0005t0002g0109 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0226 a0001c0005t0002g0227 a0001c0011t0002g0249 a0001c0011t0002g0266 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0022t0002g0309 a0008c0026t0002g0108	49	384	0.1276	203	c.984 others(220): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTC TATAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTTTCTGCAGCTCC GGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310590	C C	CAGAAACA others(196): Show CAGAAACAGGCCGGGAGCTGTAGAAACATGGCCCGGAGCTATAGAAACGG CCCAGAGTCCAGAAACACAGCCCGGAGCTGTAGAAACACGGCCGGGAGCT GCAGAAACACAGCCGGGAGCTATAGAAACACGGCCCGGAGCTGTAGAAAC ACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACACAGCCCGGAG CTAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0016 a0001c0010t0001g0016	2	384	0.0052	203	c.984 others(220): Show c.984+1254_984+1255insATAGCTCCGGGCTGTGTTTCTGGACTCT GGGCCGTTTCTATAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTT TCTATAGCTCCCGGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGC TCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATG TTTCTACAGCTCCCGGCCTGTTTCT	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543215	G G	GGGGGGAC others(196): Show GGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAA GTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGT GTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGTACAGT GAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0116 a0006c0006t0003g0116	1	286	0.0035	203	c.153 others(220): Show c.1539+560_1539+561insGACAGTGGTGAGTGGGGGGATGGTGAGT GGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTG GTGAGTGGGGGTACAGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MNT_chr17_2379073_2406060	2380409	C C	CAGTTCGA others(196): Show CAGTTCGAGGGCAGCCCATTATCTGTCGCAGACATCTGCCATGTCCCTGA GACTGCGGGAGGCAGGGGATGCATGGGTGTCCCCATCTGTCCCTGGTGAG AAGCAAGGCTAGCTCTGCCTTCCACATGCTTCTCAGGATGCCAAGAGGCC TAGGAACCCAGAAACCCCCTTGGAGGAGCTGTGTATGCGGGGGTGCCAGG AAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0010 a0001c0001t0012g0010	1	444	0.0023	203	c.62 others(214): Show c.6289_*6491dupCCTTCCTGGCACCCCCGCATACACAGCTCCTCCA AGGGGGTTTCTGGGTTCCTAGGCCTCTTGGCATCCTGAGAAGCATGTGGA AGGCAGAGCTAGCCTTGCTTCTCACCAGGGACAGATGGGGACACCCATGC ATCCCCTGCCTCCCGCAGTCTCAGGGACATGGCAGATGTCTGCGACAGAT AATGGGCTGCCCTCGAACT	MNT	ENSG00000070444.15	transcript	ENST00000174618.5	protein_coding		3663		chr17	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(196): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTATAT ATATAATATATATTATATATAATATATATTATATATATATAATATATATT ATATATAATATATATTATATATATATAATATATATTATATATATTTTAAA TATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0086 a0010c0025t0001g0086	1	334	0.0030	203	c.547 others(220): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATATAATA TATATTATATATAATATATATTATATATATAATATATATTATATATTATA ATATATAATATATATTATATATTATATATATAATATATATTATATATATT ATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(196): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TTATATATATATATTATAATATATATTATATATATTATATATATAATATA TATAATATATATATTATATATATATTATATATATATATAATATATATAAT ATAATATATATATATATTATATATATAATATATATTATATATATTTTAAA TATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02896.hp1 others(1): Show HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0033 a0001c0003 a0001c0033	a0001c0003t0001 a0001c0033t0001 a0001c0003t0001 a0001c0033t0001	a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0096 others(1): Show a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0096 a0001c0033t0001g0045	4	334	0.0120	203	c.547 others(220): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATATATATTATATTATATATATTATATATATATAT AATATATATATAATATATATATTATATATATTATATATATAATATATATA ATATATATTATAATATATATATATAATATATAATATATATTATATATATT ATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(196): Show TAATATATATTATATATATAATATATAATATATATTATATATATAATATA TAATATATAATATATATTATATATATAATATATAATATATATAATATATA TTATATATATAATATATAATATATAATATATATTATATATATAATATATA TTATATATAATATATATTATATATATAATATATATTATATATATTTTAAA TATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	334	0.0030	203	c.547 others(220): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATATATTATATATATAATATATATTATATATATTATATATT ATATATATAATATATATTATATATTATATATTATATATATAATATATATT ATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO16_chr13_108624611_109213005	109023305	T T	TATATATA others(196): Show TATATATATTTATATATTATACAGATATAAATATATATTTATATATTATA CAGATATAAATATATATTTATATATTATACAGATATAAATATATATTTAT ATATTATACAGATATAAATATATATTTATATATTATACAGATATAAATAT ATATTTATATATTATACAGATATAAATATATATTTATATATTATACAGAT ATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0091 a0001c0025t0004g0091	1	152	0.0066	203	c.279 others(222): Show c.2796+3403_2796+3605dupTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATATTTATATATTA TACAGATATAAATATATATTTATATATTATACAGATATAAATATATATTT ATATATTATACAGATATAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYT1_chr20_64159452_64247253	64175587	T T	TAGCATCT others(196): Show TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTC CTGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0122 a0001c0002t0006g0122	1	223	0.0045	203	c.-99 others(222): Show c.-99+10859_-99+10860insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCGTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176127	C C	CCTGCAGC others(196): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	223	0.0045	203	c.-99 others(222): Show c.-99+11440_-99+11441insCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTCCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALADL2_chr3_174854334_175815548	174962383	T T	TATATGTC others(196): Show TATATGTCATAGTGACTATGACATATATATATATATATATGTCATAGTCA CTATGACATATATATATATATGTCATAGTGACTATGACATATATATATAT GTCATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATAT ATATATATGTCATAGTGACTATGACATATATATATATGTCATAGTGACTA TGAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	64	0.0156	203	c.43+ others(222): Show c.43+102937_43+102938insGTCATAGTGACTATGACATATATATA TATATATATGTCATAGTCACTATGACATATATATATATATGTCATAGTGA CTATGACATATATATATATGTCATAGTGACTATGACATATATATATATGT CATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATATAT ATATATGTCATAGTGACTATGACATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174962383	T T	TATATGTC others(196): Show TATATGTCATAGTGACTATGACATATATATATATATATATGTCATAGTGA CTATGACATATATATATATATGTCATAGTGACTATGACATATATATATAT GTCATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATAT ATATATATGTCATAGTGACTATGACATATATATATATGTCATAGTGACTA TGAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0021 a0004c0002t0021	a0004c0002t0021g0003 a0004c0002t0021g0003	1	64	0.0156	203	c.43+ others(222): Show c.43+102937_43+102938insGTCATAGTGACTATGACATATATATA TATATATATGTCATAGTGACTATGACATATATATATATATGTCATAGTGA CTATGACATATATATATATGTCATAGTGACTATGACATATATATATATGT CATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATATAT ATATATGTCATAGTGACTATGACATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(196): Show CTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTAT AGTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAGTATACATATATGTATAGTATACATATATGTATACTATACGTATAGTA TACATATATGTATACTATACGTATAGTATACATATATGTATACTATACGT ATAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	374	0.0027	203	c.137 others(220): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATAGTATACATATATGTATAGTATACATAT ATGTATAGTATACATATATGTATAGTATACATATATGTATACTATACGTA TAGTATACATATATGTATACTATACGTATAGTATACATATATGTATACTA TACGTATAGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(196): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGCAGTCCG ACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	176	0.0057	203	c.291 others(220): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NBAS_chr2_15161916_15566334	15402828	A A	AAGAAAGA others(196): Show AAGAAAGATGGCTACTTAGGGTGACTTTCTGTATAGAACAAAGCATTTCC CATGGCAAACCACAGATTCCCATTCTTGGAGTATTTTCCAGGATATGAAA ATAACCAATTGATTTTTTTCTCATCTATAAAGCATGAATATTAACAATAC CTTTCTAAGAAGACTATTTCAAGGATTAAATTAATAAATATAGAATGAAA ATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01358.hp2 others(9): Show HG00408.hp2 HG00438.hp2 HG01358.hp2 HG02451.hp2 HG02698.hp1 HG03540.hp2 HG04199.hp1 NA18948.hp1 NA18963.hp2 NA19010.hp2 NA19072.hp1 NA19084.hp1	a0005 a0008 a0009 others(1): Show a0005 a0008 a0009 a0017	a0005c0006 a0005c0051 a0008c0014 others(2): Show a0005c0006 a0005c0051 a0008c0014 a0009c0013 a0017c0052	a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 others(2): Show a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 a0009c0013t0001 a0017c0052t0001	a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 others(9): Show a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0008c0014t0001g0133 a0008c0014t0001g0134 a0009c0013t0001g0131 a0009c0013t0001g0132 a0017c0052t0001g0135	12	224	0.0536	203	c.293 others(220): Show c.2938-528_2938-527insATATTTTCATTCTATATTTATTAATTTA ATCCTTGAAATAGTCTTCTTAGAAAGGTATTGTTAATATTCATGCTTTAT AGATGAGAAAAAAATCAATTGGTTATTTTCATATCCTGGAAAATACTCCA AGAATGGGAATCTGTGGTTTGCCATGGGAAATGCTTTGTTCTATACAGAA AGTCACCCTAAGTAGCCATCTTTCT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	25/51			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667549	C C	CTCTTACC others(196): Show CTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	378	0.0027	203	c.148 others(222): Show c.1480-2800_1480-2799insAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667781	C C	CCCTTACC others(196): Show CCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCTCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	378	0.0027	203	c.148 others(222): Show c.1480-3032_1480-3031insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGAGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTTGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667840	C C	CCTTACCC others(196): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCG CCCT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	378	0.0027	203	c.148 others(222): Show c.1480-3091_1480-3090insAGGGCGGAGGGACCCAGTTGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar

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