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
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(407): Show CACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTCCACCA TCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCACCACCTCC ACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAGCACT TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCT TCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0251 a0002c0007t0001g0251	1	256	0.0039	414	c.323 others(433): Show c.3234+1717_3234+1718insCCACCACCTCCACCACCACCACCACC ACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCAC CTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCCTCACC ACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCAC CTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC3_chr5_438176_472290	468204	A A	ATCTGACA others(407): Show ATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCGTATCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCC CTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCA GCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCT GGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAG GGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCG CCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCT CCTGATCCCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0017 a0003c0009t0015 a0001c0002t0017 a0003c0009t0015	a0001c0002t0017g0092 a0003c0009t0015g0090 a0001c0002t0017g0092 a0003c0009t0015g0090	2	418	0.0048	414	c.13 others(425): Show c.1306_*1307insTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATC CCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCT CCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTG TCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTG ACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACAT CCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCC TCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAG CCTGGAGGGCGCCCTCCTGATCCCCTCCTG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		915		chr5	TogoVar
FBXO21_chr12_117136991_117195470	117152015	C C	CCCTTTGA others(407): Show CCCTTTGACTTTTCATATGACTTTGACTTTTTGAAGAATCCAGACTGGTT GTCTTGTAAATTTTTTTTTTTTTTTGAGACAGGGTGCTCTGTCACCCAGG CTGGAGTGCAGTGGTACAAACATGAGTCACTGCAGCCTCAACCTCCTGGG CTCAATTGATCCTCCTATCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCA TGCACCACCACACCTGGCTATTTTTTGTGTTTTTGTAGAAATGGGGTTTC ACCATGTAGCCCAGGCTGGTCTCGAAGTCCTGGACTCAAGCATTCTGCCC GCTTCAGCCTCTCAAAGTGTTGAGATCACAGGTGTGAGCCACCGTGCCTG GCCATTGTCTTGTAAATTGTATAACATTTTGGATTTGCCTCATTGGTTCC TTAACTGTATGATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01123.hp1 others(14): Show HG00423.hp2 HG00597.hp2 HG01123.hp1 HG02300.hp1 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18951.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0023 a0001c0001t0001g0237 a0001c0001t0001g0240 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0285 a0001c0001t0001g0300 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0362 a0001c0007t0001g0372	17	402	0.0423	414	c.167 others(433): Show c.1675+3775_1675+3776insACATCATACAGTTAAGGAACCAATGA GGCAAATCCAAAATGTTATACAATTTACAAGACAATGGCCAGGCACGGTG GCTCACACCTGTGATCTCAACACTTTGAGAGGCTGAAGCGGGCAGAATGC TTGAGTCCAGGACTTCGAGACCAGCCTGGGCTACATGGTGAAACCCCATT TCTACAAAAACACAAAAAATAGCCAGGTGTGGTGGTGCATGCCTGCAGTC CCAGCTACTTGGGAGGCTGAGATAGGAGGATCAATTGAGCCCAGGAGGTT GAGGCTGCAGTGACTCATGTTTGTACCACTGCACTCCAGCCTGGGTGACA GAGCACCCTGTCTCAAAAAAAAAAAAAAATTTACAAGACAACCAGTCTGG ATTCTTCAAAAAGTCAAAGTCATATGAAAAGTCAAAGG	FBXO21	ENSG00000135108.16	transcript	ENST00000622495.5	protein_coding	11/11			chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946651	T T	TACATATA others(407): Show TACATATAAATATATATACATAAATATATAAATATATATAAATATATAAA TATATAAATATATATAAGTACATATAAATATATATACATAAATATATAAA TATATATAAATATATAAATATATAAATACATAATATATATAAATATAAAA TATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAT ATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATATA TATAAATATATAAATATATATAAAAATATATAAATATATATAAAAATATA TAAATATATATTATATATAAATATATAATATATAAATATATATAATATAT AAATATATACAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATATACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0008 a0006c0008t0008	a0006c0008t0008g0007 a0006c0008t0008g0007	1	344	0.0029	414	c.617 others(431): Show c.617-1516_617-1515insTGTATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTGTATATATTTATATATTATATAT ATTTATATATTATATATTTATATATAATATATATTTATATATTTTTATAT ATATTTATATATTTTTATATATATTTATATATTTATATATATTTATATGT GTATATATTTTTTATATATTTTTATATATTTATATATATTTTTATATATA TTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATA TATATTATGTATTTATATATTTATATATTTATATATATTTATATATTTAT GTATATATATTTATATGTACTTATATATATTTATATATTTATATATTTAT ATATATTTATATATTTATGTATATATATTTATATGT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FGFR4_chr5_177081915_177103144	177096935	C C	CTCCTCCT others(407): Show CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCC TCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTC TTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCT CCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTC CTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCCTCC TCTTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	372	0.0027	414	c.215 others(431): Show c.2153+213_2153+214insCCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTT CCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCC TCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTG CTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCC TCCTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCCT CCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(407): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCACCCAT CCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGC CTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGC CTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTATCC CTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCC ACCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01517.hp1 HG01496.hp2 HG01517.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	2	406	0.0049	414	c.33 others(425): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACC CACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCC CCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCC CCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46134509	G G	GAGGGTCA others(407): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	230	0.0044	414	c.24 others(425): Show c.2477_*2478insGACCCTAAACCTGACCCTCACCCTCACCCTAAAC CTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTGACCCTGACCCT GACCCTCACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGACCCTAA ACCTGACCCTGACCCTGACCCTAAACCTGACCCTGACCCTGACCCTGACC CTAAACCTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTCACCCT GACCCTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCTGACCCTGA CCCTCACCCTAAACCTGACCCTCACCCTAAACCTGACCCTCACCCTAAAC CTGACCCTCACCCTAAACCTGACCCTCACCCTAAACCTGACCCTCACCCT CACCCTCACCCTGACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2269		chr21	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(407): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATATA CACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGT ATATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATA GTGTATATATACACTATATATACACTATATAGTGTATATATAGTATATAT ATACTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02809.hp2 others(2): Show HG02572.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0002g0070	5	204	0.0245	414	c.114 others(433): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATACACTATATATACACTATATATGTATATATATACATA TATAGTGTATATATAGTGTATATATACTATATATATAGTGTATATATACT ATATATATAGTGTATATACACTATATATATAGTGTATATATACTATATAT AGTGTATATATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806652	C C	CTCCCCCC others(407): Show CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC TCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	314	0.0032	414	c.24 others(425): Show c.2486_*2487insTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GATGTCTGCAGGCCACCCTCCCTCCCTCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2366		chr2	TogoVar
GALNTL5_chr7_151951446_152024929	151969577	T T	TTCAGGAT others(407): Show TTCAGGATTTGGTCAAAAAGTTTTGTTACAAGTGAAGCTGTCCTACAAGG TCAATGATGTAATGGCATGTATTAGCTGAATCTAAAGTTGATGTGAGTTC TAAAATTACACTGAAACCTTGGAGGGTAAAATTTTTATCTTCAGTATGTG TAAATACTGTAAAATAGCTAAATGGAGCTATTTGATTTTGATATTAGTGA ACATCTACCTGGTGGTTTAAAGTCTTTCTGGTACTACTGGGTGCTGAGAT GGGAAGATCAGGACTTTGTGTGGATGTGAGTTAGTATACTTGAGTATCTT GGAATGCCAAGTTAAAATTTATATGTAGAAAATTATACTTTAAAGATTTG AGTTTTCTTGATACTATCTAATTTTATTCAATAACAGGAGAGTCTGCATA TTTGAGAAAATATGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	384	0.0026	414	c.248 others(431): Show c.248-1368_248-1367insTCAGGATTTGGTCAAAAAGTTTTGTTAC AAGTGAAGCTGTCCTACAAGGTCAATGATGTAATGGCATGTATTAGCTGA ATCTAAAGTTGATGTGAGTTCTAAAATTACACTGAAACCTTGGAGGGTAA AATTTTTATCTTCAGTATGTGTAAATACTGTAAAATAGCTAAATGGAGCT ATTTGATTTTGATATTAGTGAACATCTACCTGGTGGTTTAAAGTCTTTCT GGTACTACTGGGTGCTGAGATGGGAAGATCAGGACTTTGTGTGGATGTGA GTTAGTATACTTGAGTATCTTGGAATGCCAAGTTAAAATTTATATGTAGA AAATTATACTTTAAAGATTTGAGTTTTCTTGATACTATCTAATTTTATTC AATAACAGGAGAGTCTGCATATTTGAGAAAATATGC	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	2/8			chr7	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03688.hp2 HG00738.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	422	0.0047	414	c.31 others(425): Show c.3138_*3139insGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAG GGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCAC ACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCAC GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	414	c.31 others(425): Show c.3138_*3139insGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAGG GGCACCCACACGGGCAGCACGGGGGGGGGCACGGGGGAGGGGACAGCCAC ACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCAC GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GRAMD4_chr22_46615386_46684785	46635113	A A	AGCCACTC others(407): Show AGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTG GGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGA ACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTC TTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCTCCACCCCTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	328	0.0031	414	c.163 others(431): Show c.163-2691_163-2690insCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTC CCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGAC CCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTG GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635509	C C	CTCCCTGC others(407): Show CTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGCCCCTGG CCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCCGGCCAC TCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCT GTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCC TGGGGGACCGTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0190 a0001c0001t0015g0190	1	328	0.0031	414	c.163 others(431): Show c.163-2320_163-2319insACCCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTA TCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCT GCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCC CCGCCCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCAC CCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCC GGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCC ACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRTP1_chr13_113319163_113369130	113346045	C C	CGAGAACA others(407): Show CGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGA CCCAGGAGGATCTCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGC TGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGAGAGGACC TCTGCGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCA GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTC TGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGG AGGACCTCTGTGGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	288	0.0035	414	c.466 others(431): Show c.466-1087_466-1086insTGCCACAGAGGTCCTCCCGGATCCGCTC AGCCACAGAGGTGCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGG GTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAG GTCCTCCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCTGGGTCTGTTCTC GGCCACAGATGTCTTCCCAGGTCTGCTCAGCCGCAGAGGTCCTCTCGGGT CTGCTCTCTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGTGC TCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCC ACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCT GCTCTTGTCCACAGAGGTCCTCCTGGGTCTGTTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(407): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCCCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0057 a0001c0026t0002g0057	1	408	0.0025	414	c.633 others(431): Show c.633-1323_633-1322insTCCTCCTCTCCTGCGTGGACGCCCCACT TCCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602255	C C	CCCTCCTC others(407): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0376 a0001c0017t0001g0376	1	408	0.0025	414	c.633 others(431): Show c.633-1120_633-1119insCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIVEP3_chr1_41501365_41923922	41544798	T T	TCACCACC others(407): Show TCACCACCACCACTACCACCTCTACCACCTCTACCACCACTACCACCACT ACCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTACCAC CACCATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCA CCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCTCTACC ACCACCATCACTACTACCACCACCACCACCTCTACCACCATCGCTACCAT CACCACCACCACCACTATCACCGCCACCACCATCGCTACCATCACCACCA CCACCACTACCACCACCACCACCACCAATACCACTACCTCTACCTCCACT GCTACCATCACCACCACCACTACCACCTCTACCACCACCATCACCACCAC CACTACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0042 a0006c0012t0050 a0006c0012t0042 a0006c0012t0050	a0006c0012t0042g0052 a0006c0012t0050g0003 a0006c0012t0042g0052 a0006c0012t0050g0003	2	134	0.0149	414	c.520 others(435): Show c.5208-19889_5208-19888insGTGGTGGTGGTAGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGGTAGCAGTGGAGGT AGAGGTAGTGGTATTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGA TGGTAGCGATGGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCG ATGGTGGTAGAGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGT GGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGA TGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAG GTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGT AGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(407): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	330	0.0030	414	c.124 others(429): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33323166	T T	TATATATG others(407): Show TATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATAT ATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATGTATGGAATATATATATGGAATATATATGTATGGAATATACATATG GAATATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGG AATATATATATATGGAATATATGTATGGAATATATATATATGGAATATAT GTATGGAATATATATATGGAATATATGTATGGAATATATATATGGAATAT ATGTATATGGAATATATATATGGAATATATATATATGGAATATATATGGA ATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	414	c.-18 others(425): Show c.-1890_-1889insATATATGTATGGAATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATACATATGGAATATATATGTTTGGAATATATATATATGGAATA TATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAAT ATATATATGGAATATATGTATATGGAATATATATATGGAATATATATATA TGGAATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1803		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79886450	C C	CGGGGACA others(407): Show CGGGGACATGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	312	0.0032	414	c.625 others(433): Show c.625-12590_625-12589insGGGGACATGGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGAGATGGGGATGGGAACATAGGGACGTGGGG ACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGA CGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3			chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(407): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATATTATATATATATTATATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0077 a0001c0001t0014g0077	1	80	0.0125	414	c.62- others(433): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TAGAATTATATATATAATATATATTATATATATAGAATTATATATATAAT ATATATTATATATATATAATATATATATAATATATATTATATATATAGAA TTATATATATAATATATATTATATATATAGAATATATATATAATATATAT TATATATATAGAATTATATATATAATATATATTATATATATAGAATTATA TATATAATATATATTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(407): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATATTATATATATATTCTATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02056.hp1 HG01517.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0061 a0001c0001t0004g0043 a0001c0001t0003g0061 a0001c0001t0004g0043	2	80	0.0250	414	c.62- others(433): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TAGAATTATATATATAATATATATTATATATATAGAATTATATATATAAT ATATATTATATATATAGAATATATATATAATATATATTATATATATAGAA TTATATATATAATATATATTATATATATAGAATATATATATAATATATAT TATATATATAGAATTATATATATAATATATATTATATATATAGAATTATA TATATAATATATATTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(407): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCATTATCACCACCACCATCACCACCATCACCACCACCACCACCA CCATCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATC ACCATCACCACCATCACCATCACCACCATCACCATTACCACCACCATTAC CACCACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCA TTATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACC ACCACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCAC CATCACCATCACCAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0222 a0001c0002t0075g0222	1	330	0.0030	414	c.691 others(429): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAATGGTGGTGGTA ATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGGTGATAATGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(407): Show GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGA GGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0034 a0004c0004t0005g0034	1	270	0.0037	414	c.178 others(431): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAG GAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAG GGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGT GGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGG GAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGG GGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGGAGG AGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG	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(407): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	270	0.0037	414	c.178 others(431): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(407): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAAGAGGAGGAGGAAGAG GAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	316	0.0032	414	c.583 others(429): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCTCC TCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCTTATTCA TCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCACTGC CTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCCTCCTC CCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCCACTCC CTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCCTCCCC CTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCCTCCTT CTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349785	G G	GGTGGGGG others(407): Show GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTAGGGGTGA TGATGGTGGGGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGG GTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGAT GATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGG TGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGATGACGGTGGGG GTGATGACGGTGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0023 a0023	a0023c0054 a0023c0054	a0023c0054t0001 a0023c0054t0001	a0023c0054t0001g0059 a0023c0054t0001g0059	1	186	0.0054	414	c.956 others(431): Show c.956+1918_956+1919insTCCCACCGTCATCACCCCCACCGTCATC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCC CCACCCCCACCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACC CCCACCCCCACCATCATCACCCCTACCCCCACCATCATCACCCCTACCAT CACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(407): Show ACACCCACTCCACACCAGCCTCCTACATGTCCACACAGACACCCACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCT ACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAG ACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	294	0.0034	414	c.503 others(429): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTG TGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTA GGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTT GGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTG TGTGGACATGTAGGAGGCTGGTGTGGAGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LUC7L_chr16_183990_234449	187155	G G	GGGAGGAA others(407): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGTCACGGGAGGAACAGCGTCACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	350	0.0029	414	c.20 others(425): Show c.2042_*2043insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG ACGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1834		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	2210416	G G	GTATTCGG others(407): Show GTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTAT TCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCATATTCGG GACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACC GCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCA GCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT GCATTCCCGTGGACTCTCTAGGAGCCATATTCAGGACCGCCAGCCTGCAT TCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCC GTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGG ACTCTCTAGGAGCCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0244 a0001c0011t0001g0244	1	264	0.0038	414	c.986 others(431): Show c.986+2795_986+2796insTGGCTCCTAGAGAGTCCACGGGAATGCA GGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCT GGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCG GTCCTGAATATGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCC CGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAA TACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACG GCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATATGGCTC CTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAG AGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210468	G G	GGGACCGC others(407): Show GGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGA CCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGC CAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGC CCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGC ATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTC CCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGT GGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGAC TCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGGACTCTC TAGGAGCCATATTCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	264	0.0038	414	c.986 others(431): Show c.986+2743_986+2744insTGAATATGGCTCCTAGAGAGTCCACGGG AATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATG CGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGG CTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGG CGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGT CCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCG AATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATA CGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGC TCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(407): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATATTATACATTATATATAATGTATAATATATATTATATATAATATA CATTATATATAATGTATAATATATATTATATATTATACATTATATATAAT GTATAATATATATTATATATTATACATTATATATAATGTATAATATATAT TATATATAATATACATTATATATAATGTATAATATATATTATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0030 a0003c0002t0001g0030	1	152	0.0066	414	c.299 others(435): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATATTATACATTATATATAATG TATAATATATATTATATATAATATACATTATATATAATGTATAATATATA TTATATATTATACATTATATATAATGTATAATATATATTATATATTATAC ATTATATATAATGTATAATATATATTATATATAATATACATTATATATAA TGTATAATATATATTATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(407): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18997.hp1 HG00408.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0309 a0001c0001t0001g0313	2	362	0.0055	414	c.391 others(429): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACC ACCATCACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(407): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATTCATATATATTCATATATATATTCATATATATATATA TTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	191	0.0052	414	c.343 others(431): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(407): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATATA TTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	191	0.0052	414	c.343 others(431): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L_chr13_112964214_113104742	113033252	C C	CGTGAGTG others(407): Show CGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCC ATGGCGTGAGTGGCCCCCGTGACGTGAGTGGCCCCCGTGACATTAGTGGA CCCCGTGGCATGAGTGGCTGCCATGACGTGAGTGGCCCCCGTGATGTGAG TGGCCCCTGTGACATTAGTGGACCCCATGGCATGAGTGGCCCCCATGACG TGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGACGTGAGTGGCCCCTGT GACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCGTGATGTGAGTGGCCC CCATGACGTGAGTGGCCCCCGTGACATTAGTGGCCCCCGTGACGTGAGTG GCCCCCGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCATGACGTG AGTGGCCCCCGTGAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	116	0.0086	414	c.278 others(431): Show c.278+8494_278+8495insGTGAGTGGCCCCTGTGACATTAGTGGAC CCCGTGGCGTGAGTGGCCCCCATGGCGTGAGTGGCCCCCGTGACGTGAGT GGCCCCCGTGACATTAGTGGACCCCGTGGCATGAGTGGCTGCCATGACGT GAGTGGCCCCCGTGATGTGAGTGGCCCCTGTGACATTAGTGGACCCCATG GCATGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCC CGTGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGTGG CCCCCGTGATGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGACATTA GTGGCCCCCGTGACGTGAGTGGCCCCCGTGACATTAGTGGACCCCGTGGC GTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGAT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(407): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0227	1	292	0.0034	414	c.377 others(431): Show c.377-3432_377-3431insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583504	G G	GCAGCCAC others(407): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCTCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0096 a0096	a0096c0053 a0096c0053	a0096c0053t0026 a0096c0053t0026	a0096c0053t0026g0011 a0096c0053t0026g0011	1	292	0.0034	414	c.377 others(431): Show c.377-3576_377-3575insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGAGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03710.hp1 HG03831.hp2 others(3): Show HG02698.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA18964.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0124 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0124 a0001c0001t0001g0232	6	390	0.0154	414	c.112 others(431): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	390	0.0026	414	c.112 others(431): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02809.hp2 HG02896.hp1 others(9): Show HG01516.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp2 NA19002.hp1 NA19030.hp1 NA19062.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001	a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0181 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0181 a0001c0001t0003g0140 a0001c0001t0007g0249 a0001c0003t0001g0013	12	390	0.0308	414	c.112 others(431): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735537	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp2 NA18960.hp2 others(2): Show HG00735.hp1 HG01934.hp2 NA18960.hp2 NA19004.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0134 a0001c0001t0003g0135 others(1): Show a0001c0001t0003g0051 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136	5	390	0.0128	414	c.112 others(431): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GGGAGGTT others(407): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAA GTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ACGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGA GGTTATGGCAGTTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0012 a0016c0033t0012	a0016c0033t0012g0200 a0016c0033t0012g0200	1	274	0.0037	414	c.224 others(433): Show c.2242-4789_2242-4788insATAACTGCCATAACCTCCATAACTTC CCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCGTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCCTAACCTCCATAACCTCCATAACCTCCATAATCTCCC TAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACC TCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGT AACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876874	G G	GGGAGGTT others(407): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGA GGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0063 a0001c0001t0001g0066	2	274	0.0073	414	c.224 others(433): Show c.2242-4852_2242-4851insATAACCTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACT TCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(407): Show GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	274	0.0037	414	c.224 others(433): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCC TCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACCT CCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MLPH_chr2_237482251_237560322	237517561	G G	GGGTAGGC others(407): Show GGGTAGGCAGCTGGGTGGATGGGTAGATGGATGAAGTCGGGAGGGATGAG TGGTGGGTGGATGGATAGATGAATGGATGGATAGGCAAGTGGAGGGGTGG ATGGGTAGGTGAATGAGTGGATAGATGGGTGGATGCATGGATGCATGGAT GGATGGATGAACGGATGGATGGATGGATGGATAAGTAGGTGGATGGGCAG ATAGATAGGTAGGTGGATAGGTGGATGGATGGGCAGATAAGGTGGTAGGT GGGTCAATGGATGGATGGGTGGGTGAGTGGATAGGTGGATGGATGGATGC GTGGATGGATGGATGGATAGATAGATAAGTGGATGGGTGGATAGATGGAT AGATGTCTGAGTGGATGGATAAATAGATGTCTGAGTGGATGAATGCATTG GTGAGTGGATGGGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0103 a0011c0012t0001g0103	1	286	0.0035	414	c.446 others(429): Show c.446-976_446-975insTAGGCAGCTGGGTGGATGGGTAGATGGATG AAGTCGGGAGGGATGAGTGGTGGGTGGATGGATAGATGAATGGATGGATA GGCAAGTGGAGGGGTGGATGGGTAGGTGAATGAGTGGATAGATGGGTGGA TGCATGGATGCATGGATGGATGGATGAACGGATGGATGGATGGATGGATA AGTAGGTGGATGGGCAGATAGATAGGTAGGTGGATAGGTGGATGGATGGG CAGATAAGGTGGTAGGTGGGTCAATGGATGGATGGGTGGGTGAGTGGATA GGTGGATGGATGGATGCGTGGATGGATGGATGGATAGATAGATAAGTGGA TGGGTGGATAGATGGATAGATGTCTGAGTGGATGGATAAATAGATGTCTG AGTGGATGAATGCATTGGTGAGTGGATGGGTAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43500175	G G	GTGGCAGT others(407): Show GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGT GGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGT GATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGCAGTGATGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01515.hp1 HG00738.hp1 HG01074.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0002t0003g0078 a0001c0002t0003g0184 a0001c0001t0001g0001 a0001c0002t0003g0078 a0001c0002t0003g0184	3	250	0.0120	414	c.748 others(431): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500229	G G	GTGGTGAT others(407): Show GTGGTGATGGAGGTGGCAGTGATGATGGTGGTGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGG TGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAG TGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAG GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGG GGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	250	0.0040	414	c.748 others(431): Show c.748+1911_748+1912insGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGT GGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTG GTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(407): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAG TGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTG ATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGC GGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0161 a0001c0001t0009g0161	1	250	0.0040	414	c.748 others(431): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATG GAGGTGGCAGTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGT GGTGGGGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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