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
TRIM46_chr1_155168849_155189970	155189571	CTGCTCTC others(392): Show CTGCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGG GGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCC TGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCC GGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGC GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGG CTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	348	0.0029	-399	c.53 others(11): Show c.5382_*5780del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4602		chr1	TogoVar
USP9X_chrX_41080445_41241579	41098806	AAGTGCTG others(392): Show AAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAACTTCGTCTT TTTCATTACTGTATAGTATTGTATTAAATCCATGATTTATTTATCCATTC TGTTGGATTGAGGTGGGTTTTTTTCATTTGTTTGTTTTGAAACAGGGTCT TGCTCTATCACTCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCAGTGCA GCCTTGTCCTTCCAGGCTCTAGCGATTCCTCCCACCTCTGCCTCTTGAGT AGCTGGGACCACGACCACATGCCATAATGCCCAGATAATTGTTTTTTTTT TTTTTTTTTTTTTTTTTAAACAGAGATGGAGTCTCACTATGTTGCTCAGG CTGGTCTCGAGCTCCTGGGCTCCAGCAATCCTCCTGCCTCAGCCTCCCAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0105 a0007c0012t0001g0105	1	293	0.0034	-399	c.-15 others(21): Show c.-159+12725_-159+13123del	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF609_chr15_64455578_64691068	64540978	GGATCGCG others(392): Show GGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTAAGACTCTGTCTC AAAAAAAAAAAAAAAAAAAACTTTTGTGTCTAACAGCAAAACAAAATCCA TCTTTGTTTCCTTCCTCTTCTCCATCATATAGGAAATATGGAAAAGCAGA AAAGAATTGCGTTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCTGAGGCCGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAACA TTGGCCGGGCGTGGTGTCGGGCGCCTGTAGTCCCCGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTCGCAGTGAGCCGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	176	0.0057	-399	c.747 others(19): Show c.747+40848_747+41246del	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128585	GCCCCCGC others(391): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAG CCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00735.hp1 others(13): Show HG00099.hp2 HG00408.hp2 HG00735.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG02015.hp1 HG02683.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp1 HG03942.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0002c0007t0004	a0001c0001t0001g0083 a0001c0001t0001g0139 a0001c0001t0001g0155 others(13): Show a0001c0001t0001g0083 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0010g0396 a0001c0002t0001g0262 a0001c0002t0001g0267 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0294 a0001c0002t0001g0296 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0395	16	406	0.0394	-398	c.806 others(15): Show c.806+107_806+504del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128625	GCCCCCGC others(391): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCA CCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0362 a0001c0001t0003g0362	1	406	0.0025	-398	c.806 others(14): Show c.806+67_806+464del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
C19orf12_chr19_29693937_29720261	29719210	TTATATAA others(391): Show TTATATAAAATATATATAATATATAAGTTTGGACAAAGATATAGAATTAT ATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATATAATATA ATATATCAGTATATATAATTGTACTATTATATAATTATATATAATTATAT ATATTATATATATAATTATATATATATAATTTATATATATATAAATATAT ATATAAATTATATATATATATAATATATATATTTATATATATAATATACA TATTTATATATATATTATATATATTTATATATATATTATATTTATATATA TTTATATATATTATATATATATTATATATATAATATATAAATATATTTAT ATAATATAAATATATATATTTATATAATATAAATATATATATTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG03704.hp1 NA20905.hp1 HG01192.hp1 HG03704.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0005 a0001c0002t0001g0003 a0001c0001t0009g0005 a0001c0002t0001g0003	3	418	0.0072	-398	c.-44 others(11): Show c.-4494_-4097del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		3950		chr19	TogoVar
CFAP300_chr11_102042437_102089554	102089156	TGAACTCC others(391): Show TGAACTCCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGTGG GATTACAGGTGTGAGCCACCACACCCAGCCTGTTGTTATGTTTGTTTCTA GTCAAAGTTAGTGCTTGACATGTCTTACTTTATTTAATCTTCTCAACTAC CCTTTCAAAGTAGGTTAAAAGTCAGTAGAATCTTTGGGGTTATAAGTGAA AGAAAATTTCATCCAAATTGTCTTAAGCAAAAAGTGAATGTATTAGCCCA CATAACTGAAAAGTCCCATAGTAGTTTGGGTTGCTTTTTGGCCTGATTTA ATGCAAGACCCGTTTTCTCTCTCAGTTCATATTCTCTCTGTTGACTCCAT TCTTAGTTTGTGTCTTTCCACGTACAAAAATGTTAGTATACTTGGCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	346	0.0029	-398	c.59 others(11): Show c.5958_*6355del	CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding		4603		chr11	TogoVar
CFAP74_chr1_1916957_2008786	1934721	CTGTAGGT others(391): Show CTGTAGGTACACACGTGTGTACGTGGGTGTTAGGTTGTAGGTACACACGT GTGTACGTGGGTGTTAGGTTGTAGGTACACACGTGTGTATGTGGGTGTTA CGTTGTAGGTACGTGTGTACGTGGGTGTTAGGTTGTAGGTACACACGTGT GTGCGTGGGTGTTAGGTTGTAGGTACACACGTGTGTACGTGGGTGTTAGG TTGTAGGTACACAGGTGTGTACGTGGGTGTTAGGTTGTAGGTACACGTGT GTACGTGGGTGTTAGGTTGTAGGTACACACGTGTGTATGTGTGTTGCTGT GGGTACACACGTGTGTACGTGGGTGTTAGGCTGTGGGTACACACGTGTGT ACGTGGGTGTTAGGTTGTGGGTACACAGGTGTGTACGTGGGTGTTAGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0044 a0005c0044	a0005c0044t0001 a0005c0044t0001	a0005c0044t0001g0066 a0005c0044t0001g0066	1	278	0.0036	-398	c.301 others(19): Show c.3011+3736_3011+4133del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CLIC4_chr1_24740447_24849321	24799615	CGCCCGGC others(391): Show CGCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG GGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02897.hp2 others(5): Show HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0002g0129 others(5): Show a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134	8	344	0.0233	-398	c.182 others(17): Show c.182+1785_182+2182del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNN2_chr19_1021608_1044065	1029169	CTCAGGGG others(391): Show CTCAGGGGACCCTACCCAAATCATTCCAGGCAGATCTAGCTCAGGGGACC CTAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAA TCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGG CAGGTCCAGGTCAGGGGACCCTACCCAAATCATCCCAGGCAGGTCTAGCT CAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCC TAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAAT CATCCTAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGC AGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01891.hp2 HG01943.hp2 others(40): Show HG01516.hp2 HG01891.hp2 HG01943.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0025 a0001c0002t0013 a0001c0003t0010 a0001c0003t0033 a0001c0009t0010 a0001c0015t0011	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0005g0034 a0001c0001t0005g0063 a0001c0001t0005g0165 a0001c0001t0005g0251 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0006g0019 a0001c0001t0011g0022 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0192 a0001c0001t0022g0061 a0001c0001t0025g0056 a0001c0002t0013g0023 a0001c0003t0010g0166 a0001c0003t0010g0169 a0001c0003t0033g0164 a0001c0009t0010g0167 a0001c0009t0010g0168 a0001c0015t0011g0060	43	390	0.1103	-398	c.64- others(15): Show c.64-1888_64-1491del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL6A1_chr21_45976770_46010048	45987793	GGTCCAGA others(391): Show GGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGG AGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGG GGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA CGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTC GGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGT GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	128	0.0078	-398	c.804 others(15): Show c.804+140_804+537del	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34			chr21	TogoVar
CSMD1_chr8_2930361_4999914	3795631	TCATGTAT others(391): Show TCATGTATAGATATAGATATATATCTATCATAGATATAGATATATATCTA TCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTA TCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCAT GTACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTA TCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATA TCTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCAT GTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC AGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAGA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	126	0.0079	-398	c.819 others(19): Show c.819-41987_819-41590del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
ELFN1_chr7_1665277_1752946	1702554	ATGGATTG others(391): Show ATGGATTGTGATTTTGATTGAGATTGCCTTGAATGTATAAATTAATTTGA AGACTGTTGATGTTTCATAAATATTCATTTTCTATTCATTACAGACATAT AGAAATTCAATATATATTTGTATATGAATTTTATGCTAATATTTTATTAA TTTTGGTAACATATACATTCTGTTGGACTTTTTATGTACATAATCACATT GTCTGTGAATAGCGAGAGCTTCGTTTCTTTCTTTCTGAATCTTATAATTT TTGTTTCTTTTTCTTGCCTTATTGCAATGGCTGCAGCTACTAGCACCATG CTGAATCAGAGTGGTGGCAGCAAGTATCCTTGTGTTGCTCTTGATTGCAA AAAGTTTTAGCTGCACCGTGGTGTGATATGCTGTAAGTTATGCACATGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	302	0.0033	-398	c.-45 others(19): Show c.-455-6535_-455-6138del	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC3L4_chr14_103089725_103115559	103109253	CCCTCCCT others(391): Show CCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCC CCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02602.hp2 HG03669.hp2 HG01515.hp1 HG02602.hp2 HG03669.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0123 a0003c0001t0001g0172 a0003c0001t0001g0328 a0003c0001t0001g0123 a0003c0001t0001g0172 a0003c0001t0001g0328	3	404	0.0074	-398	c.197 others(17): Show c.1977-756_1977-359del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109275	TCCCCATG others(391): Show TCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03942.hp2 HG02080.hp1 HG03942.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0003 a0003c0001t0002 a0003c0001t0003	a0003c0001t0002g0102 a0003c0001t0003g0146 a0003c0001t0002g0102 a0003c0001t0003g0146	2	404	0.0050	-398	c.197 others(17): Show c.1977-719_1977-322del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GGT6_chr17_4551927_4565577	4565179	AGCTGGGA others(391): Show AGCTGGGATTACAGGCATGTGCCACCATGCCTGGGTAATTTTTGTATTTT TAATAGAGACGGGGTTTTACTGTGTTGGCCAGGTTGGTCTCGAACTCCTG ACCTCAGGTGATCTGCTTGCCTCGGCCTCCCAAATTGCTGGGATTACAGG CATAAGCCACCGTGCCCAGCCAAATGCTTTGTTCTTTATCCCAATAGCCA GATAATCCAGAAGTCATTTGTTTTTACCTGGTAGGGACAGCAGTGCACCT TTACAATCTTGCCTCAGAGTTGTGGCAACACAGTATCTAATGGTCAGTGT CAGGGATATAAACCATGGCAGCTGGTGCTCAGATGAGGTGGAGACAGTGG TGCCTTCCCCAGACAGTTCTGCAACGTGATTTTGAGCATTGGTCTTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	458	0.0022	-398	c.-50 others(11): Show c.-5056_-4659del	GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding		4603		chr17	TogoVar
LINS1_chr15_100561924_100607184	100582183	CACTGGGT others(391): Show CACTGGGTCTTCCGTCTACACTATGGCCACTAGCCTAGTCTTGGTCTTAC ACTGGGTCTTCTGTCTACACTATGGCCCACCAGCCAAGTCTTGGTCTTAC ACTGGGTCTTCCGTCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTAT ACTGGTTCTTCCATCTACAACATGGCCCACTAGCCTAGTCTTGGTCTTAC ACTGGGTCTTCCATCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTAT ACTGGGTCTTCCATCTACACTATGGCCACTAGCCTAGTCTTGGTCTTACA TTGGGTCTTCTGTCTACACTATGGCCCACCAGCCTAGTCTTGGTCTTACA CTGGGTCTTCCGTCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(86): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18983.hp1 NA18984.hp2 NA18991.hp2 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19076.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0005 a0004c0004 others(2): Show a0001c0001 a0001c0005 a0004c0004 a0004c0014 a0010c0015	a0001c0001t0001 a0001c0005t0001 a0001c0005t0024 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0024 a0004c0004t0001 a0004c0004t0024 a0004c0014t0001 a0010c0015t0001	a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0005t0001g0006 others(49): Show a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0208 a0001c0005t0001g0212 a0001c0005t0001g0215 a0001c0005t0001g0220 a0001c0005t0001g0221 a0001c0005t0001g0222 a0001c0005t0001g0229 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0232 a0001c0005t0001g0233 a0001c0005t0001g0234 a0001c0005t0001g0238 a0001c0005t0001g0242 a0001c0005t0001g0244 a0001c0005t0024g0217 a0004c0004t0001g0003 a0004c0004t0001g0011 a0004c0004t0001g0022 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0051 a0004c0004t0001g0053 a0004c0004t0001g0206 a0004c0004t0001g0213 a0004c0004t0001g0214 a0004c0004t0001g0216 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0001g0226 a0004c0004t0001g0227 a0004c0004t0001g0235 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0243 a0004c0004t0024g0228 a0004c0014t0001g0207 a0010c0015t0001g0210	89	430	0.2070	-398	c.-10 others(19): Show c.-103-1636_-103-1239del	LINS1	ENSG00000140471.17	transcript	ENST00000314742.13	protein_coding	1/6			chr15	TogoVar
LMF1_chr16_848634_975984	953276	CGTCCACA others(391): Show CGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC CACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGC CTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACA CAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAA ACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0075 a0001c0004t0001g0075	1	294	0.0034	-398	c.503 others(16): Show c.503+683_503+1080del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149470133	GTACTTAT others(391): Show GTACTTATTCCTACTTACTAGCCGTTTAATCTTGGTCAAGTCAGCCATGT GGCTCTCAACTTCCTCATCTGTAACATAAAAGGATTAGAGCAGACAATCT CTAACAAATGCTATAATACCACTGACAAATAATAATATTAGCTAATATGT GTAAGGCACTGTGTTTAGTGCTTTTTCCCTTAATACAATAGCTTTGAGAT ATAATTTATATACCATACAATTTACTTCTTAAAAAAGTACACAATTCAGT AATTTTAATAGATAGGAGTAACCATCACCACAGTCAATTCTAGAATATTT TTATACATCAGAAGAAACCCTTTACCCATTATCAATTACTCTCCATTCCT CCTAACTCCCTCCCAGCCCTAGGCAACTACTAGTCTACTTTCTGTCTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG03688.hp2 NA18953.hp1 HG00741.hp2 HG03688.hp2 NA18953.hp1	a0002 a0008 a0020 a0002 a0008 a0020	a0002c0002 a0008c0008 a0020c0018 a0002c0002 a0008c0008 a0020c0018	a0002c0002t0026 a0008c0008t0056 a0020c0018t0057 a0002c0002t0026 a0008c0008t0056 a0020c0018t0057	a0002c0002t0026g0112 a0008c0008t0056g0099 a0020c0018t0057g0139 a0002c0002t0026g0112 a0008c0008t0056g0099 a0020c0018t0057g0139	3	260	0.0115	-398	c.59 others(11): Show c.5981_*6378del	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	5/5	5981		chr1	TogoVar
PCGF3_chr4_700832_775089	745268	CCCGGGGG others(391): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0326 a0001c0001t0009g0326	1	366	0.0027	-398	c.462 others(15): Show c.462+583_462+980del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745751	CGCCGTGG others(391): Show CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGT TAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0334 a0001c0001t0009g0334	1	366	0.0027	-398	c.462 others(17): Show c.462+1064_462+1461del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PCGF3_chr4_700832_775089	745784	CGGGGTCG others(391): Show CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	366	0.0027	-398	c.462 others(17): Show c.462+1118_462+1515del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746464	GCCCGGGG others(391): Show GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0334 a0001c0001t0009g0334	1	366	0.0027	-398	c.462 others(17): Show c.462+1784_462+2181del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747151	GGGGTCGC others(391): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01175.hp2 others(1): Show HG00642.hp2 HG01175.hp1 HG01175.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0003g0308 a0001c0001t0007g0266 a0001c0001t0007g0267 others(1): Show a0001c0001t0003g0308 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0008g0339	4	366	0.0109	-398	c.462 others(17): Show c.462+2467_462+2864del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747204	CCCGGGGG others(391): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG TCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01517.hp1 HG02056.hp1 others(8): Show HG00544.hp2 HG01517.hp1 HG02056.hp1 HG02280.hp1 HG02559.hp2 HG02630.hp1 NA18967.hp1 NA18978.hp2 NA18979.hp1 NA18994.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0037	a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 others(8): Show a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0003g0194 a0002c0002t0001g0250 a0002c0002t0001g0296 a0002c0002t0037g0317	11	366	0.0301	-398	c.462 others(17): Show c.462+2519_462+2916del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMT1_chr6_149744741_149816419	149762543	TCTATGAT others(391): Show TCTATGATATATATATATCTATGATATATATATCTATGATATATATATCT ATGATATATATATCTATGATATATATATATCTATGATATATATATATCTA TGATATATATATGATATATATATCTATGATATATATATATCTATGATATA TATATATCTATGATATATATATCTATGATATATATATCTATGATATATAT ATATCTATGATATATATACCTATGATATATATATACCTATGATATATATA CCTATGATATATATATCTATGATAATCTATGATATATATGATATATATAT CTATGATATATATCTATGATATATATATCTATGATATATATGTTATATAT ATCTATGATATATATCTATGATATATATATCTATGATATATATGATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	334	0.0030	-398	c.56- others(15): Show c.56-8618_56-8221del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
PLD5_chr1_242077986_242529697	242393276	ATATATAT others(391): Show ATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTAT ATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTATAT ATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTATATAT ATGTGTATATATATGAGTATATATATGTGTATATATATGAGTATATATAT GTGTATATATGAGTATATATATGTGTATATATGAGTATATATATATGTGT ATATATGTGAGTATATATATGTGTATATATATGAGTATATATGTGTATAT ATATGAGTATACATATGTGTATATATATGAGCATATATGTGTATATATAT GAGTATATATATGTGTATATATATGAGTATATATGTGTATATATATGAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0003 a0001c0001t0044 a0001c0002t0003	a0001c0001t0044g0042 a0001c0002t0003g0135 a0001c0001t0044g0042 a0001c0002t0003g0135	2	188	0.0106	-398	c.190 others(19): Show c.190-45432_190-45035del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
SGSM2_chr17_2332501_2386054	2355035	GGTTGGGG others(391): Show GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0101 a0001c0025t0001g0101	1	422	0.0024	-398	c.134 others(17): Show c.134-6594_134-6197del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356427	GTTGGGGG others(391): Show GTTGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA TTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19011.hp2 NA18947.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0002g0227 a0001c0001t0001g0115 a0001c0001t0002g0227	2	422	0.0047	-398	c.134 others(17): Show c.134-5203_134-4806del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	433245	CGTGAGTG others(391): Show CGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAG ATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGG GCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGG CCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTT AGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAG AGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0003c0008t0003 a0001c0001t0003 a0003c0008t0003	a0001c0001t0003g0171 a0003c0008t0003g0183 a0001c0001t0003g0171 a0003c0008t0003g0183	2	212	0.0094	-398	c.111 others(19): Show c.1110+1066_1110+1463del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1072448	CAGCCCCC others(391): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0105 a0001c0030t0001g0105	1	118	0.0085	-398	c.224 others(18): Show c.2241+787_2241+1184del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TAF5_chr10_103362976_103394065	103366364	TTCAGCCT others(391): Show TTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGC TAAATTTTTATATTTTTAGTAGAGATGGCGTTTCATCATGTTAGCTAGGC TGGTCTCGAACTCCTGACCTCGGGTGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGACTACAGGTATGTGCCACTGCGTGTGGCCATGATTTTTAAAT ATACAATTAAAATGGTTTATTTGTAATAACGGATAATAGCATGAATACAT AACGTACATATTTCACAACCACAACATTCTGGTATTTAAAAACTTTTTTT TTGAGACGGAGTCTCGTACTGTCGCGCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCTCTTCTTCTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA19062.hp1 HG02040.hp2 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0111 a0002c0002t0001g0077 a0002c0002t0001g0111	2	400	0.0050	-398	c.-16 others(11): Show c.-1625_-1228del	TAF5	ENSG00000148835.12	transcript	ENST00000369839.4	protein_coding		1611		chr10	TogoVar
TIMM22_chr17_992129_1008671	993577	ACCCTCAC others(391): Show ACCCTCACATAATCCACTCTCACATAATCCGCCTCACATAATCCACCCTC AAATAATCCACCCTCGCATAATCCACACTCACATAATCCACCTCACATAA TCCACCTCGCATAATCCACCTCGCATAATCCACCCACCCTCACATAATCC ACCTCGCATAATCCACCCTCACATAATCCACCCTCACATAATCCACACTC ACATAATCCACCTCACATAATCCACCTCACATAATCCACCTCACATAATC CACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCTC ACATAATCCACCCCTCACATAATCCACCTCACATAATCCACCTCACATAA TCCACCCCTCACATAACCCACCCTCACATAATCCACCTCACATAATCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG04199.hp2 NA18941.hp1 others(9): Show HG03927.hp2 HG04199.hp2 NA18941.hp1 NA18942.hp2 NA18971.hp2 NA18977.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19065.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0038 a0001c0001t0007 a0001c0001t0024 a0001c0001t0038	a0001c0001t0007g0012 a0001c0001t0007g0062 a0001c0001t0024g0041 others(1): Show a0001c0001t0007g0012 a0001c0001t0007g0062 a0001c0001t0024g0041 a0001c0001t0038g0012	12	439	0.0273	-398	c.-35 others(11): Show c.-3565_-3168del	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3551		chr17	TogoVar
TPO_chr2_1408463_1548673	1445034	GGAGCTGG others(391): Show GGAGCTGGCTCCTTCTTGTTTGTATGATGCAGTCATTGCTGCAGGAGGTA CTGTGTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTGTATGATCCAGT CATTGCTGCAGGAGGCACCATGTTGGAAGGAAATGGGGCAGGCTCCTTCC TGTTTGTATGATCCAGTCACTGCTGCAGGAGTCACCATGTTGGAAGGGAA TGGGCAGGCTCCTTCTTGTTTGTATGATCCAATCACTGCTGCAGGAGGCA CCATGTTGGAAGGGAATGGGCAGGCTCCTTCCTGTTTGTATGATCCAGTC ATTGCTGCAGGAGGCACTGTGTTGGAAGGGAATGAGCAGGCTCCTTCTTG TTTGTATGATCCAGTCATTGCTGCAGGAGGTACCCTGTTGGAAGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00733.hp1 others(14): Show HG00140.hp2 HG00544.hp1 HG00733.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01978.hp2 HG02132.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG03239.hp1 HG04184.hp1 NA18998.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 others(5): Show a0001 a0004 a0009 a0014 a0015 a0016 a0017 a0018	a0001c0004 a0004c0005 a0004c0007 others(6): Show a0001c0004 a0004c0005 a0004c0007 a0009c0034 a0014c0030 a0015c0031 a0016c0029 a0017c0033 a0018c0025	a0001c0004t0001 a0004c0005t0001 a0004c0005t0002 others(11): Show a0001c0004t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0004 a0004c0007t0008 a0009c0034t0003 a0014c0030t0004 a0015c0031t0001 a0016c0029t0001 a0017c0033t0001 a0018c0025t0002	a0001c0004t0001g0114 a0004c0005t0001g0075 a0004c0005t0002g0083 others(14): Show a0001c0004t0001g0114 a0004c0005t0001g0075 a0004c0005t0002g0083 a0004c0005t0003g0017 a0004c0005t0005g0071 a0004c0005t0007g0076 a0004c0007t0004g0072 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0009c0034t0003g0118 a0014c0030t0004g0115 a0015c0031t0001g0105 a0016c0029t0001g0099 a0017c0033t0001g0101 a0018c0025t0002g0045	17	130	0.1308	-398	c.482 others(17): Show c.482+8652_483-8261del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76393835	GGGCAGGG others(391): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19077.hp1 NA19091.hp1 NA18995.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0144 a0001c0001t0169 a0001c0001t0043 a0001c0001t0144 a0001c0001t0169	a0001c0001t0043g0294 a0001c0001t0144g0144 a0001c0001t0169g0195 a0001c0001t0043g0294 a0001c0001t0144g0144 a0001c0001t0169g0195	3	346	0.0087	-398	c.181 others(21): Show c.1811-13930_1811-13533del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393844	GGGTGGTC others(391): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	346	0.0029	-398	c.181 others(21): Show c.1811-13939_1811-13542del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF853_chr7_6610610_6629290	6626631	GGGGTCTC others(391): Show GGGGTCTCACTATGTTGCCCAGGTTGGTCTCGAACTCCTGGAATCAAGCA GTCCTCCTGCCTCGGCCTCCCAAAGCACTGGGATTAGAGGCGTGAACCAC CATGCCCGGCCTCACAGGATTTTGCTGGGGGCTGCATCTCTGCTTGGTTT CCTCTCCTTCCTTGACCCGCTTCTCTTACTCCAGCACCCTCTGAGAGCAT GGCCTTAATGCATCACTCACTCAGAAATCCGTGTGTTGAAGTCTGCTGCC CAGCAGCCTGCCCTGAGACCCATGGTGTAGTTCTGGCAAATGGAGTCTGG GCTGGGGCCACTCCCCCATCAGGTGGCAATAGGGACCTGTTTGTTGGGGG TGAGTGGTGGTTACCTTTGGCTGCCTTTTTTTTTTTTTTTTTTGAGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02895.hp1 others(1): Show HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0020 a0003c0004t0001g0043 a0003c0004t0001g0020 a0003c0004t0001g0043	4	422	0.0095	-398	c.36 others(11): Show c.3661_*4058del	ZNF853	ENSG00000236609.4	transcript	ENST00000457543.4	protein_coding		2342		chr7	TogoVar
AP3D1_chr19_2095988_2156566	2128546	GCCCCACA others(390): Show GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	406	0.0025	-397	c.806 others(15): Show c.806+147_806+543del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
C19orf12_chr19_29693937_29720261	29719415	AATTATAT others(390): Show AATTATATATATATATAATATATATATTTATATATATAATATACATATTT ATATATATATTATATATATTTATATATATATTATATTTATATATATTTAT ATATATTATATATATATTATATATATAATATATAAATATATTTATATAAT ATAAATATATATATTTATATAATATAAATATATATATTTATATATATATA AAATATATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATAT ATAAGTTTGGACAAAGATATAGAATTATATAATATATAATATAATATATC AGTATATATAATTGTACTATTATATAATTATATATAATTATATATATTTA TATATATTAAATTATATATATATAATTATATATATATAAATTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(63): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0187 a0001c0001t0003g0002 a0001c0001t0003g0047 others(28): Show a0001c0001t0002g0187 a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0181 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0010g0015 a0001c0001t0010g0172 a0001c0001t0010g0216 a0001c0001t0010g0225 a0001c0001t0017g0026 a0001c0001t0017g0224 a0001c0001t0031g0222 a0001c0001t0036g0223 a0001c0001t0037g0217 a0001c0001t0048g0227 a0001c0001t0049g0175 a0001c0001t0050g0208 a0001c0002t0001g0013 a0001c0002t0001g0048 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0226	66	418	0.1579	-397	c.-46 others(11): Show c.-4698_-4302del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4155		chr19	TogoVar
C4BPA_chr1_207099233_207149972	207119391	TATGTATG others(390): Show TATGTATGGAAGATAATTCTGGGAAACATAATTACAGCTTAGCTAAGTTG ACACAACATAAATCTACCACAGCTCACTCCTTGTCAAATGTGATATTTGT ATACACTAGTTTTAACCATACTTAGCTTAATTTCCAAATAAAGTCAATAG CAAAGTAATACTCACATTTTACATAATGCAACTATCCCTCATACACCCAA AAACATGGAAATTCTTTTCCTAAAAGAGAATTCCCTTTGAGCTGAGTCAT ATCTCCCCTTTGATATTCTATAACTTAAATATTGAGATGTAAGGTAAGCC ACTACAAACACATCTTATACAGTAGGGGAAGGAAAGGGGTAAAAAGAAAC ACAATTAATGTAATGTCCATTTATATTAAAATAAGAAAGAAATATTCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0013	a0001c0001 a0001c0004 a0001c0019 others(12): Show a0001c0001 a0001c0004 a0001c0019 a0001c0020 a0002c0002 a0002c0003 a0002c0014 a0002c0016 a0003c0009 a0004c0005 a0005c0008 a0006c0007 a0010c0021 a0011c0013 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0019t0001 a0001c0020t0004 a0002c0002t0001 a0002c0003t0001 a0002c0014t0001 a0002c0016t0001 a0003c0009t0001 a0004c0005t0001 a0005c0008t0001 a0006c0007t0001 a0010c0021t0001 a0011c0013t0001 a0013c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(169): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0277 a0001c0001t0001g0291 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0004t0001g0029 a0001c0004t0001g0222 a0001c0019t0001g0112 a0001c0020t0004g0113 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0100 a0002c0002t0001g0115 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0150 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0255 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0312 a0002c0003t0001g0014 a0002c0003t0001g0083 a0002c0003t0001g0131 a0002c0003t0001g0172 a0002c0003t0001g0184 a0002c0003t0001g0190 a0002c0003t0001g0196 a0002c0003t0001g0203 a0002c0003t0001g0216 a0002c0003t0001g0242 a0002c0003t0001g0253 a0002c0003t0001g0266 a0002c0003t0001g0311 a0002c0014t0001g0238 a0002c0016t0001g0236 a0003c0009t0001g0106 a0004c0005t0001g0025 a0004c0005t0001g0308 a0005c0008t0001g0044 a0006c0007t0001g0286 a0006c0007t0001g0287 a0006c0007t0001g0288 a0010c0021t0001g0101 a0011c0013t0001g0205 a0013c0017t0001g0108	186	342	0.5439	-397	c.428 others(17): Show c.428+3877_429-4134del	C4BPA	ENSG00000123838.11	transcript	ENST00000367070.8	protein_coding	4/11			chr1	TogoVar
C4orf19_chr4_37448925_37598510	37553018	TATCTCTC others(390): Show TATCTCTCATGGCCTCATTTTTCCATAAAGCCTTTCCTGGCAGCTTCGTT GCAGTGGGATTACATTTTCTCCCAAACTCCCATAACGCTTAGTGCTGACT GGCTGTACCAGGCATCAGGTCTTCCCCATGTACAAGCAATAGCTTGCCCA ACAAATGAGTTATTTATACTTGTATCCCTGTATAGAAACACATATTTTCC AGGCACCAGCAGTATACCAAAAAATATTTATTTTTGAAAAGATTTATCAC TTCAAAAAGTCATTCTGGGAAAAATTATAACTTCTTTGATGCATCTTATT TCATGGTTATTGTTATTTTGACACCTGATCTTTATAGTTCTTGGAGCTGA TAAACTTCTTACTTTACCCCTGGATGTTGTTAGTTTCATCTTAGAAGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01884.hp2 others(20): Show HG00639.hp1 HG01081.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02523.hp2 HG02683.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp1 NA18971.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037 a0001c0001t0054 a0002c0002t0008 a0002c0002t0046	a0001c0001t0001g0039 a0001c0001t0001g0173 a0001c0001t0001g0195 others(18): Show a0001c0001t0001g0039 a0001c0001t0001g0173 a0001c0001t0001g0195 a0001c0001t0001g0267 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0002g0297 a0001c0001t0003g0082 a0001c0001t0006g0206 a0001c0001t0006g0219 a0001c0001t0009g0001 a0001c0001t0009g0181 a0001c0001t0009g0348 a0001c0001t0009g0349 a0001c0001t0010g0033 a0001c0001t0028g0002 a0001c0001t0031g0340 a0001c0001t0037g0077 a0001c0001t0054g0326 a0002c0002t0008g0186 a0002c0002t0046g0171	23	354	0.0650	-397	c.-72 others(17): Show c.-72-5007_-72-4611del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807253	ACCTTCCC others(390): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGG AAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	314	0.0032	-397	c.30 others(11): Show c.3088_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2967		chr2	TogoVar
GET4_chr7_871554_901436	890002	CGAGCGGG others(390): Show CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGA GGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG03098.hp1 others(2): Show HG02886.hp2 HG02895.hp2 HG03098.hp1 NA18980.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0228 a0001c0001t0001g0008 a0001c0001t0001g0228	5	384	0.0130	-397	c.467 others(15): Show c.467-906_467-510del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
HS6ST2_chrX_132621015_132963629	132787156	TATATATA others(390): Show TATATATATATGTATATATATATATATATATACATATATATATACACATA TATATATACACATATATATATACACATATATATACATATATGTATATATA TGTATATATTTATAATATATTATTATATTTATATAATATATATATATATT TTTTCAATACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGC GATCTCAGCTCACTGCAACCTCCATCTCCCAGATTCAAACGATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAG CTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATTTTGGCCAGG CTGGTCTCGAGCTCCTGACCTCATGATCCACCTGTCTTGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG03041.hp2 others(1): Show HG02145.hp1 HG02922.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0079 a0001c0002t0002g0004 a0001c0002t0002g0076 others(1): Show a0001c0002t0001g0079 a0001c0002t0002g0004 a0001c0002t0002g0076 a0001c0002t0003g0075	4	201	0.0199	-397	c.948 others(19): Show c.948-79059_948-78663del	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
LINS1_chr15_100561924_100607184	100582173	CTTGGTCT others(390): Show CTTGGTCTTACACTGGGTCTTCCGTCTACACTATGGCCACTAGCCTAGTC TTGGTCTTACACTGGGTCTTCTGTCTACACTATGGCCCACCAGCCAAGTC TTGGTCTTACACTGGGTCTTCCGTCTACACTATGGCCCACTAGCCTAGTC TTGGTCTTATACTGGTTCTTCCATCTACAACATGGCCCACTAGCCTAGTC TTGGTCTTACACTGGGTCTTCCATCTACACTATGGCCCACTAGCCTAGTC TTGGTCTTATACTGGGTCTTCCATCTACACTATGGCCACTAGCCTAGTCT TGGTCTTACATTGGGTCTTCTGTCTACACTATGGCCCACCAGCCTAGTCT TGGTCTTACACTGGGTCTTCCGTCTACACTATGGCCCACTAGCCTAGT	C C	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0035 a0004c0004t0035	a0004c0004t0035g0280 a0004c0004t0035g0280	1	430	0.0023	-397	c.-10 others(19): Show c.-103-1625_-103-1229del	LINS1	ENSG00000140471.17	transcript	ENST00000314742.13	protein_coding	1/6			chr15	TogoVar
MBTPS1_chr16_84048763_84121942	84050802	GGGTAAGG others(390): Show GGGTAAGGAGAGCAGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGA GAGCTGCAAGGCCGGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGG GTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCC GCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTAC AAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCTTAAGGA GAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCGCATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03486.hp1 NA18522.hp1 HG02970.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0011 a0001c0001t0022	a0001c0001t0011g0255 a0001c0001t0022g0256 a0001c0001t0022g0257 a0001c0001t0011g0255 a0001c0001t0022g0256 a0001c0001t0022g0257	3	424	0.0071	-397	c.32 others(11): Show c.3250_*3646del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2960		chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085827	CGTGGCCC others(390): Show CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCT ACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0011 a0011	a0011c0181 a0011c0181	a0011c0181t0001 a0011c0181t0001	a0011c0181t0001g0388 a0011c0181t0001g0388	1	403	0.0025	-397	c.164 others(17): Show c.1644+446_1644+842del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64175330	CCTGTAGC others(390): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0024 a0001c0006t0015g0024	1	223	0.0045	-397	c.-99 others(19): Show c.-99+10594_-99+10990del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241807253	ACCTTCCC others(390): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGG AAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0020 a0003c0007t0002g0020	1	319	0.0031	-397	c.-20 others(11): Show c.-2024_-1628del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1939		chr2	TogoVar
NXN_chr17_794310_984776	948845	TGCCTCCT others(390): Show TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCC CGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0223 a0001c0003t0001g0223	1	242	0.0041	-397	c.360 others(19): Show c.360+30077_360+30473del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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Search Results (Total: 10000 hits)