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
SNPH_chr20_1261294_1314327	1302230	G G	GTTTCTAA others(528): Show GTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	350	0.0029	535	c.440 others(552): Show c.440+1652_440+1653insATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTT CATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCA CCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTT CATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCA CCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATT TCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATC ACCGCCA	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(528): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATAAACATATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	302	0.0033	535	c.12+ others(550): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATA AACATATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAA ATATATTATAGTTTATATAATATATACATATATATTATAGTTTATATAAT ATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATATAAA others(528): Show TATATAAATATTATAAATATATATTTATATAAAAATATATATAAATATAT ATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAA ATATATATTTATATAAAAATATATATAAATATATATTTTTATATAAATAT ATATAAATATATATTTATATATAAATATATATAAATATATATTTATATAT AAATATATATAAATATATATTTATATATAAATATATAAATATATATTTAT ATATAAATATATATAAATATATATTTATATATAAATATATATAAATATAT ATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAA ATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATAT ATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAA AAATATATATAAATATATATTTATATAAAAATATATATAAATATATATTT ATATAAAAATATATATAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	144	0.0069	535	c.190 others(554): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTATATATAAATATATATTTATAT ATATTTATATATAAATATATATTTATATATTTATATATAAATATATATTT ATATATATTTATATATAAATATATATTTATATATATTTATATATAAATAT ATATTTATATATATTTATATAAAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAA TATTTATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
TERT_chr5_1248167_1300068	1272821	A A	ACACATCA others(528): Show ACACATCAGACCCCCATGACCAACCACCATCTAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	392	0.0026	535	c.228 others(552): Show c.2287-542_2287-541insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTC TGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACACATCA others(528): Show ACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCTACAACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATC AGGCCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	392	0.0026	535	c.228 others(554): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGCCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTA GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGG TCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273751	C C	CCACCATC others(528): Show CCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGC CATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACC ACATCAGGCCCCACGACCACCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGGCCCCACGACCACCA TCCACAGTCACCACACATCAGACCCCTGTGACCGAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	392	0.0026	535	c.228 others(554): Show c.2287-1472_2287-1471insATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGTGGTCGTGGGGCCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGG GGCCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTG TGGATGGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TNNT3_chr11_1914703_1943702	1939870	T T	TCCAGCCT others(528): Show TCCAGCCTGGGAAACAGAGTGAGGCCCTGTCTCTCACACACACACACACA CACACACAGACTCCCACACTCCAGCCTGGGAAATAGAGTGAGGCCCTGTC ACACACACACACCAGACTCCCACACTCCAGCCTGGGAAACAGAGTGAGGC CCTGTCTCAAACACACACACACACTCCCACACTCCAGCCTGGAAAACAGA GTGAGGTCCTGTCTCACACACACACACACACACACACACACACACACACA CACAGACTCCCACACTCCAGCCTGGGCAACAGAGTGAGGTCCTGTCACAC ACACACACACACACACACACACAGACTCCCACACTCCAGCCTGGGAAACA GAGCGAGGTCCTGTCACACACACACACACACACACACACAGACACACACA GACTCCCACACTCCAGCCTGGGAAACAGAGCGAGGCCCTGTCTCTCACAC ACACACACACACACACACTCCCACACTCCAGCCTGGGAAACAGAGTGAGG CCCTGTCTCTCTCTCTCTCTCTCTCACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	125	0.0080	535	c.13 others(546): Show c.1378_*1379insCCAGCCTGGGAAACAGAGTGAGGCCCTGTCTCTC ACACACACACACACACACACACAGACTCCCACACTCCAGCCTGGGAAATA GAGTGAGGCCCTGTCACACACACACACCAGACTCCCACACTCCAGCCTGG GAAACAGAGTGAGGCCCTGTCTCAAACACACACACACACTCCCACACTCC AGCCTGGAAAACAGAGTGAGGTCCTGTCTCACACACACACACACACACAC ACACACACACACACACACAGACTCCCACACTCCAGCCTGGGCAACAGAGT GAGGTCCTGTCACACACACACACACACACACACACACAGACTCCCACACT CCAGCCTGGGAAACAGAGCGAGGTCCTGTCACACACACACACACACACAC ACACAGACACACACAGACTCCCACACTCCAGCCTGGGAAACAGAGCGAGG CCCTGTCTCTCACACACACACACACACACACACTCCCACACTCCAGCCTG GGAAACAGAGTGAGGCCCTGTCTCTCTCTCTCTCTCTCTCACACACACAC A	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		1169		chr11	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(528): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCT CTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCC TCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCC TCTCCTTCCCTCCCTTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCC TCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCC TCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0056 a0001c0003t0011g0056	1	64	0.0156	535	c.104 others(554): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCT CCTCTCCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTC CCTTCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCTCCTCTCCTTCCCTCCCTTCCCCTCCCATTCCTTCCCC TCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTC TCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCC CCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VEGFB_chr11_64229584_64244264	64237081	C C	CGAGAGAG others(528): Show CGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	328	0.0031	535	c.375 others(550): Show c.375-106_375-105insGAGAGAGAGAGAGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGA GGGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(528): Show GATATATATCATATGTGATATATATGGTATATGTGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCACATGTGATATAT ATCATATATATCATATATGTGATATATATCATATATATCATATATATGAT ATATATCATATATATCATATATATGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCACATATATATATCATATATATCACATATATATCATAT ATATCATATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0001 a0002c0002t0024g0001	1	350	0.0029	535	c.-35 others(546): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATGTG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCACATGTGATATATATCATATATATCATATATGTGATATATATCATATA TATCATATATATGATATATATCATATATATCATATATATGATATATATCA TATATATCATATATATGATATATATCATATATATCATATATATGATATAT ATCATATATCATATATATGATATATATCACATATATATATCATATATATC ACATATATATCATATATATCATATATATATCATATATATGATATATATCA T	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCACATAT others(528): Show TCACATATGTGATATATATCATATGTGATATATATCACATATGTGATATA TATCATATCACATATCATATGACATAACATATCACATATCACATATCACA TATCACATATCACATATCATATGATATATATCATATGTGATATATAGCAT ATGTGATATATATCATATATATCACATATGATATATAGCATACGTGATAT ATATCATATATATCACATATGATATATAGCATACGTGATATATATCATAT ATATCACATATGATATATAGCATACGTGATATATATCATATATATCATAT ATGATATATAGCATGATATATATCATATATATCATATGTGATATATATCA TATATATCACATGTGATATATAGCATATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCATATGTGATATATAG CATATATATCATATATCATATATATCATATGTGATATATATGATATATAT GATATATATCATCTATGATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0122 a0001c0007t0033g0122	1	350	0.0029	535	c.-34 others(546): Show c.-3495_-3494insCACATATGTGATATATATCATATGTGATATATAT CACATATGTGATATATATCATATCACATATCATATGACATAACATATCAC ATATCACATATCACATATCACATATCACATATCATATGATATATATCATA TGTGATATATAGCATATGTGATATATATCATATATATCACATATGATATA TAGCATACGTGATATATATCATATATATCACATATGATATATAGCATACG TGATATATATCATATATATCACATATGATATATAGCATACGTGATATATA TCATATATATCATATATGATATATAGCATGATATATATCATATATATCAT ATGTGATATATATCATATATATCACATGTGATATATAGCATATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ATATGTGATATATAGCATATATATCATATATCATATATATCATATGTGAT ATATATGATATATATGATATATATCATCTATGATATATATGATATATATC A	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(528): Show GTATATATACATGTATACATATATACAAGTATATATATATACTTGTATAC ATATATACTATATATATACATATATACACATATATACGTATATATATGTA TATATACATATATACGTGTATATACGTATATACATGTATATAAGTATATA TACACATATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTGTATATATACGTATATATACA CATATATACATGTATATATACGTATATATACACATATACACATATATACA TGTGTATATATATATACGTATATATACATATATATATATATATATACGTA TATATACATATATACGTATATATATATACGTATATATACATATATACGTA TATATATACGTATATATACATATATACATGTATATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATGTGTATATATACATGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01981.hp2 HG02300.hp2 HG01975.hp2 HG01981.hp2 HG02300.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0012 a0001c0003 a0009c0012	a0001c0003t0001 a0009c0012t0001 a0001c0003t0001 a0009c0012t0001	a0001c0003t0001g0053 a0009c0012t0001g0004 a0001c0003t0001g0053 a0009c0012t0001g0004	3	383	0.0078	535	c.-42 others(546): Show c.-4232_-4231insTATATATACATGTATACATATATACAAGTATATA TATATACTTGTATACATATATACTATATATATACATATATACACATATAT ACGTATATATATGTATATATACATATATACGTGTATATACGTATATACAT GTATATAAGTATATATACACATATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTGTATAT ATACGTATATATACACATATATACATGTATATATACGTATATATACACAT ATACACATATATACATGTGTATATATATATACGTATATATACATATATAT ATATATATATACGTATATATACATATATACGTATATATATATACGTATAT ATACATATATACGTATATATATACGTATATATACATATATACATGTATAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATGTGTATATATACATGTATATATAC A	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(529): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGA GGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19056.hp1 NA19088.hp2 NA18943.hp1 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0007 a0001c0017 a0001c0007 a0001c0017	a0001c0007t0002 a0001c0007t0018 a0001c0017t0002 a0001c0007t0002 a0001c0007t0018 a0001c0017t0002	a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0017t0002g0138 a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0017t0002g0138	3	228	0.0132	536	c.259 others(557): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCCT CCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCT TTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCA CCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAP1_chr7_892900_959680	906599	G G	GGAGAAAG others(529): Show GGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGG GAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAGGAGAAAGGAGAA AGGAGAAAGGAGAAAGGAGAAAGGAAAGGGGAAAGGGAAAGGGAAAGGGA AAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGGAAAGGGGAAAGGGGAA AGGGGAAGGGAAAGGGGAAAGGGGAAAGGGGAAAGGAGAAAGGAGAAAGG AGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGGGAAAGGGGA AAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAA AGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAA GGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAG GGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGAAAGGGGAAAGGG GAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	14	0.0714	536	c.389 others(553): Show c.389-1428_389-1427insTTTCTCCTTTCCCTTTCTCCTTTCCCTT TCTCCTTTCCCCTTTCCCCTTTCCCTTTCCCCTTTCCCCTTTCCCCTTTC CCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCC CCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCC CTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCC TTTCCCCTTTCCCCTTTCCCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTT CTCCTTTCTCCTTTCTCCTTTCTCCTTTCCCCTTTCCCCTTTCCCCTTTC CCTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCTCCTTTCTCCTTTCTCC TTTCTCCTTTCCCTTTCCCTTTCCCTTTCCCCTTTCCTTTCTCCTTTCTC CTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCCCTTTCTCCTT TCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCT CCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(529): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACACGTATACACGTATACGTGTACACACACA TACACGTATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTCTACGTGTACACA CATATACACGTATACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0040 a0001c0001t0017g0040	1	169	0.0059	536	c.48- others(553): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACACGTATACAC GTATACGTGTACACACACATACACGTATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTCTACGTGTACACACATATACACGTATACGTCTACGTGTACACAC ATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(529): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACA TACACGTATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	169	0.0059	536	c.48- others(553): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACACGTATATAC GTATACGTGTACACACACATACACGTATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTCTACGTGTACACAC ATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKRD29_chr18_23593926_23667911	23616126	A A	ATGTATGT others(529): Show ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGTATACTCTACACATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp1 HG01109.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0013 a0001c0001t0016g0016 a0001c0001t0016g0013 a0001c0001t0016g0016	2	352	0.0057	536	c.723 others(553): Show c.723+1605_723+1606insGTATGTGTAGAGTATACATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(529): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT ATAGATTATATATATAATATAATCTATATTATATATAATATAGATTATAT ATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATAT ATAATCTATATTATATAATCTATATTATATATAATATAGATTATATATAT AATCTATATTATATAATCTATATTATATATAATATAGATTATATATATAA TCTATATTATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTA TATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATA TTATATAATCTATATTATATATAATATAGATTATATAATCTATATTATAT AATCTATATTATATATAATATAGATTATATAATCTATATTATATAATCTA TATTATATATAATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	382	0.0026	536	c.37 others(547): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATATAGATTATATATATAATATAATCTATATTATATA TAATATAGATTATATATATAATCTATATTATATAATCTATATTATATATA ATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAAT ATAGATTATATATATAATCTATATTATATAATCTATATTATATATAATAT AGATTATATATATAATCTATATTATATAATCTATATTATATATAATATAG ATTATATATATAATCTATATTATATAATCTATATTATATATAATATAGAT TATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTA TATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATA TAATCTATATTATATAATCTATATTATATATAATATAGATTATATAATCT ATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTAT AT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(529): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	300	0.0033	536	c.654 others(555): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(529): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCC CCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	391	0.0026	536	c.36 others(547): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGA GC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83032189	A A	ACCAGGTC others(529): Show ACCAGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCCGGAGCTG AACAACCAGGTCAGACCAGGCCAGGCCTCCGACGCAGACCGAACTCGGGA GCTGAACAACCAGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTC GGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAG CTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGACGCAGACC GAACTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGACCTCCGACCCA GACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGAC CCAGACCGAGCTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGGCCTC CGACCCAGACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGC CTCCGACCCAGACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCA GGCCTCCAACGCAGACCGAACTCGGGAGCTGAACAAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp2 NA18906.hp2 HG03041.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114	3	266	0.0113	536	c.297 others(553): Show c.297+2845_297+2846insGTTGTTCAGCTCCCGAGTTCGGTCTGCG TTGGAGGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCGAGCTCGGTCT GGGTCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCGAGCTCGG TCTGGGTCGGAGGCCTGGCCTGGTCTGACCTGGTTGTTCAGCTCCCGAGC TCGGTCTGGGTCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCG AGCTCGGTCTGGGTCGGAGGTCTGGCCTGGTCTGACCTGGTTGTTCAGCT CCCGAGTTCGGTCTGCGTCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCA GCTCCCGAGCTCGGTCTGGGTCGGAGGCCTGGCCTGGTCTGACCCGTTGT TCAGCTCCCGAGCTCGGTCTGGGTCGGAGGCCTGGCCTGGTCTGACCTGG TTGTTCAGCTCCCGAGTTCGGTCTGCGTCGGAGGCCTGGCCTGGTCTGAC CTGGTTGTTCAGCTCCGGAGCTCGGTCTGGGTCGGAGGCCTGGCCTGGTC TGACCTGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83032189	A A	ACCAGGTC others(529): Show ACCAGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCCGGAGCTG AACAACCAGGTCAGACCAGGCCAGGCCTCCGACGCAGACCGAACTCGGGA GCTGAACAACCAGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTC GGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAG CTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGACGCAGACC GAACTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGACCTCCGACCCA GACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGAC CCAGACCGAGCTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGGCCTC CGACCCAGACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGC CTCCGACCCAGACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCA GGCCTCCGACGCAGACCGAACTCGGGAGCTGAACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(54): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG03239.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 NA18943.hp1 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19062.hp1 NA19062.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0002c0005 a0002c0009 a0002c0027 a0007c0028	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0025 a0001c0002t0028 a0001c0003t0004 a0001c0011t0030 a0001c0012t0001 a0001c0012t0002 a0002c0005t0003 a0002c0009t0003 a0002c0009t0013 a0002c0027t0003 a0007c0028t0002	a0001c0001t0001g0061 a0001c0001t0004g0243 a0001c0001t0022g0230 others(54): Show a0001c0001t0001g0061 a0001c0001t0004g0243 a0001c0001t0022g0230 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0006g0107 a0001c0002t0008g0069 a0001c0002t0008g0091 a0001c0002t0008g0092 a0001c0002t0008g0099 a0001c0002t0008g0100 a0001c0002t0008g0101 a0001c0002t0008g0102 a0001c0002t0008g0108 a0001c0002t0008g0111 a0001c0002t0008g0123 a0001c0002t0010g0126 a0001c0002t0010g0132 a0001c0002t0025g0098 a0001c0002t0028g0120 a0001c0003t0004g0189 a0001c0011t0030g0143 a0001c0012t0001g0068 a0001c0012t0001g0080 a0001c0012t0001g0097 a0001c0012t0001g0124 a0001c0012t0002g0079 a0002c0005t0003g0052 a0002c0005t0003g0053 a0002c0005t0003g0059 a0002c0005t0003g0060 a0002c0005t0003g0062 a0002c0005t0003g0063 a0002c0009t0003g0078 a0002c0009t0003g0090 a0002c0009t0003g0096 a0002c0009t0003g0103 a0002c0009t0013g0066 a0002c0027t0003g0113 a0007c0028t0002g0106	57	266	0.2143	536	c.297 others(553): Show c.297+2845_297+2846insGTTGTTCAGCTCCCGAGTTCGGTCTGCG TCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCGAGCTCGGTCT GGGTCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCGAGCTCGG TCTGGGTCGGAGGCCTGGCCTGGTCTGACCTGGTTGTTCAGCTCCCGAGC TCGGTCTGGGTCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCAGCTCCCG AGCTCGGTCTGGGTCGGAGGTCTGGCCTGGTCTGACCTGGTTGTTCAGCT CCCGAGTTCGGTCTGCGTCGGAGGCCTGGCCTGGTCTGACCCGTTGTTCA GCTCCCGAGCTCGGTCTGGGTCGGAGGCCTGGCCTGGTCTGACCCGTTGT TCAGCTCCCGAGCTCGGTCTGGGTCGGAGGCCTGGCCTGGTCTGACCTGG TTGTTCAGCTCCCGAGTTCGGTCTGCGTCGGAGGCCTGGCCTGGTCTGAC CTGGTTGTTCAGCTCCGGAGCTCGGTCTGGGTCGGAGGCCTGGCCTGGTC TGACCTGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BOK_chr2_241553745_241579131	241570438	A A	ATGGGTGA others(529): Show ATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGG GTACAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTG GGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGG TGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCC TGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAG TGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	434	0.0023	536	c.513 others(551): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGT GGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGG CGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCC TGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAG TGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGT GCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAG CGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570842	G G	GTGGGGGT others(529): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	434	0.0023	536	c.513 others(551): Show c.513+554_513+555insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGAGCGCCTGTGGGGGT GGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGATG GGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCG GATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(529): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	284	0.0035	536	c.411 others(553): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGG GAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGC GGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(529): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0231 a0003c0005t0001g0231	1	402	0.0025	536	c.80- others(551): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(529): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGG CACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCA CCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TTCACGGCACCTCCCCCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	346	0.0029	536	c.360 others(555): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGGGGGA GGTGCCGTGAATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGG CGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGG TGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGA CGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTG GTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGA GGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(529): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02129.hp2 HG01258.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0039 a0001c0001t0008 a0001c0001t0039	a0001c0001t0008g0047 a0001c0001t0039g0086 a0001c0001t0008g0047 a0001c0001t0039g0086	2	270	0.0074	536	c.162 others(557): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTT CCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCC CCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(529): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG04228.hp2 NA18951.hp1 others(4): Show HG01981.hp2 HG04228.hp2 NA18951.hp1 NA18968.hp1 NA18983.hp1 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 others(3): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0038 a0001c0001t0090 a0001c0001t0105	a0001c0001t0005g0096 a0001c0001t0012g0097 a0001c0001t0014g0042 others(4): Show a0001c0001t0005g0096 a0001c0001t0012g0097 a0001c0001t0014g0042 a0001c0001t0038g0015 a0001c0001t0038g0095 a0001c0001t0090g0094 a0001c0001t0105g0093	7	270	0.0259	536	c.162 others(557): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTT CCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCC CCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(529): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCTTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0082 a0001c0001t0092g0082	1	270	0.0037	536	c.162 others(557): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCTTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTT CCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCC CCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(529): Show TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATAACTATATAAATAAATATATATAAATA TATAAATATATAAAAATATATATAAATATATATGTAAATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAGTATATAAATATATA TAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATAAATATATATAAATATATATA AGTATATAAATATATATATAAATATATATAAGTATATATAAATATATATA AATATATATAAGTATATATAAATATATAAAAATATATATAAGTATATATA AATATATATAAATATATATAAATATATGCAAATATATATAAATATATATA AATAGATATATAAATAGATATAAATAGATATAAATAGATATATAAATACA TATATAAATAGATATAAATACATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	264	0.0038	536	c.181 others(555): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATTTATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATACTTATATATATTTATATATATTTAT ATATATTTATATATATTTATATATTTACATATATATTTATATATATTTTT ATATATTTATATATTTATATATATTTATTTATATAGTTATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098700	T T	TATAAATA others(529): Show TATAAATATATAAATATATAAAAATATATATAAATATATATAAATATATA TAAATATAAAAATATATATAAATATATAAATATATATAAGTATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAGTATATATAAGTA TATATAAATATATATAAATATATGCAAATATATATAAATATATATATAAA TAGATATATAAATATATATAAATAGATATAAATAGATATATAAATACATA TATAAATATATATAAATACATATATAAATATATATAAATATATAAATTTA TATAAATACATATATAAATATATAAATAAATATATATAAATATATAAATA TGTATAAATATATAAATATATATAAATATATATATAAATATATAAATATA TATAAATATATAAATATATATAAATATATAAATATATAAATATATATAAA TATATAAATATATATAAATATATATGTAAATATATAAATATATATAAATA TATATGTAAATATATAAATATATAGATATATATATAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18956.hp2 HG03942.hp2 NA18956.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0203 a0003c0005t0007g0251 a0003c0005t0007g0203 a0003c0005t0007g0251	2	264	0.0076	536	c.181 others(555): Show c.1812+2771_1812+2772insTTATATATATATCTATATATTTATAT ATTTACATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTATATATTTATATATATTTATATATTTATATATTTATATATATTT ATATATTTATATATATTTATATATTTATATATATATTTATATATATTTAT ATATTTATACATATTTATATATTTATATATATTTATTTATATATTTATAT ATGTATTTATATAAATTTATATATTTATATATATTTATATATGTATTTAT ATATATTTATATATGTATTTATATATCTATTTATATCTATTTATATATAT TTATATATCTATTTATATATATATTTATATATATTTGCATATATTTATAT ATATTTATATATACTTATATATACTTATATATATTTATATATACTTATAT ATATTTATATATATTTATATACTTATATATATTTATATATTTATATATAT TTTTATATTTATATATATTTATATATATTTATATATATTTTTATATATTT ATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(529): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGG AGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAAGAGT GGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGG AAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAAT GGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGG AGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGGAG GGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	536	c.415 others(557): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTTCCTCCCTCCATCCT TCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTC CCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTC CTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCT TCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTC CCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DLG2_chr11_83450173_85632344	84100255	C C	CGATATAT others(529): Show CGATATATATATATCTAAAGAGATATATATATCTAAAGGTATATATATAT CTAAAGAGATATATATATCTAAAGAGATATATATATATCTAAAGAGATAT ATATCTAAAGATATATATCTCTAAAGAGATATATATATCTAAAGATATAT ATATCTCTAAAGATATATATATATCTCTAAAGATATATATATATCTCTAG AGATATATATATCTCTAGAGATATATATATCTCTAGAGATATATATATCT CTAGAGATATATATATATCTCTAGAGATATATATATCTCTAGAGATATAT ATATATCTCTAGAGATATATATATCTCTAGAGATATATATATCTCTAAAG ATATATATATATCTCTAGAGATATATATATATCTCTAAAGATATATATAT CTCTAGAGATATATATATATCTCTAAAGATATATATATCTCTAGAGATAT ATATATATCTCTAGAGATATATATATCTCTAAAGATATATATATCTCTAA AGATATATATATATCTAAAGATATATATATCTCTAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	14	0.0714	536	c.625 others(553): Show c.625-1209_625-1208insTTTAGAGATATATATATCTTTAGATATA TATATATCTTTAGAGATATATATATCTTTAGAGATATATATATCTCTAGA GATATATATATATCTCTAGAGATATATATATCTTTAGAGATATATATATA TCTCTAGAGATATATATATCTTTAGAGATATATATATATCTCTAGAGATA TATATATATCTTTAGAGATATATATATCTCTAGAGATATATATATCTCTA GAGATATATATATATCTCTAGAGATATATATATCTCTAGAGATATATATA TATCTCTAGAGATATATATATCTCTAGAGATATATATATCTCTAGAGATA TATATATCTCTAGAGATATATATATATCTTTAGAGATATATATATATCTT TAGAGATATATATATCTTTAGATATATATATCTCTTTAGAGATATATATC TTTAGATATATATCTCTTTAGATATATATATATCTCTTTAGATATATATA TCTCTTTAGATATATATATACCTTTAGATATATATATCTCTTTAGATATA TATATATC	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1450088	G G	GCTGTGAG others(529): Show GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGTAGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGT AGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGTGAC TGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGA GGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGC TGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCT GTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTG AGGGTGAAGATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGG GTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTG AAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	536	c.107 others(555): Show c.107-51278_107-51277insCTGTGAGGGTGAAGACGAGGTGGGCG GCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGG GCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGATGAGG TGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGG TGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGG GCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCG GCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCC TCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCG GTGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTG GCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCT GAGGCTGAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(529): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGGGGAGGAGGGGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAA GGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG GAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0133 a0133	a0133c0202 a0133c0202	a0133c0202t0002 a0133c0202t0002	a0133c0202t0002g0119 a0133c0202t0002g0119	1	252	0.0040	536	c.118 others(555): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTC CTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCTCCTCCTCCC CCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(529): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATTTCTATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATATGATATATATATCATATAT ATGATATATATATCATATATTTCTATATATGATATATATAATATATATGA TATATATATCATATATTTCTATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	212	0.0047	536	c.316 others(555): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATTTCTATATATGATATATATATCA TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATTTCTATATATGATATATATATCATATATTTCTATATATGATATATAT ATCATATATATGATATATATATCATATATATGATATATATATCATATATT TCTATATATGATATATATAATATATATGATATATATATCATATATTTCTA TATATGATATATATCATATATATGATATATATATCATATATTTCTATATA TGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89634556	T T	TCCTTTCC others(529): Show TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01952.hp1 HG01361.hp2 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0220 a0002c0002t0001g0174 a0002c0002t0001g0220	2	250	0.0080	536	c.105 others(553): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(529): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGGAGGGA GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAA GGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGG AGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGA AAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGG AGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGG AGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0271 a0006c0006t0001g0271	1	290	0.0035	536	c.757 others(553): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCC TCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTC CCTCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCC CTCCCTCCCTCCCTCCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCC CCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTC CCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTT CCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCT CCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(529): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCAGACTCACCTCTGTCCCACCGTCAGAGCC CCCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCACCGTC AGAGCCCCCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCATCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACAGCC CGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	350	0.0029	536	c.-16 others(555): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGATGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCTGGGCCGTGGC TGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGC CGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(529): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCAGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCACCGTC AGAGCCCCCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCATCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACAGCC CGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18956.hp2 NA19078.hp2 NA18939.hp1 NA18956.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0256 a0001c0001t0008g0259 a0001c0001t0008g0260 a0001c0001t0008g0256 a0001c0001t0008g0259 a0001c0001t0008g0260	3	350	0.0086	536	c.-16 others(555): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGATGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCTGGGCCGTGGC TGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGC CGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FNDC10_chr1_1593012_1605135	1595377	A A	AGCAGAAC others(529): Show AGCAGAACAGGGAGAGACAGAGAGACAGAGAGAGAGAGAGACAGAGAGAG GCAGACAGAGACAGAGAGACAGACAGACAGACACAGAGAGAGCAGAACGG GGAGAGACAGAGAGAGAGAGAGAGAGACAGACACAGAGAGAGCAGAACAG GGAGAAACAGAGAGACAGAGAGCGAGAGAGACAGAGACAGAGAGAGGCAG ACAGAGACAGAGAGAGAGACAGACAGACAGACACAGAGAGAGCAGAACAG GGAGAGACAGAGACAGAGAGAAACAGAGACAGAGACAGAGACAGAGAGGC AGACAGAGAGAGAGACAGACACAGAGAGAGCAGAACAGGGAGAGACAGAG AGACAGAGAGAGAGAGTGAGACAGAGACAGAGACAGAGAGGCAGACAGAG AGAGACAGACAGACAGACAGACAGACACAGAGAGAGCAGAACAGGGACAG ACAGAGAGAGAGAGAGAGAGACAGAGACAGAGACAGAGACAGAGAGGCAG AGAGAGAGAGAGACAGACACAGAGAGAGCAGAACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19030.hp1 HG02895.hp2 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0000 a0001c0003t0003g0000 a0001c0001t0003g0000 a0001c0003t0003g0000	3	406	0.0074	536	c.39 others(547): Show c.3957_*3958insCCTGTTCTGCTCTCTCTGTGTCTGTCTCTCTCTC TCTCTGCCTCTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCTCTC TGTCTGTCCCTGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTGTCTGTC TCTCTCTGTCTGCCTCTCTGTCTCTGTCTCTGTCTCACTCTCTCTCTCTG TCTCTCTGTCTCTCCCTGTTCTGCTCTCTCTGTGTCTGTCTCTCTCTCTG TCTGCCTCTCTGTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTC TCCCTGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTCTCTCTCTGTCTC TGTCTGCCTCTCTCTGTCTCTGTCTCTCTCGCTCTCTGTCTCTCTGTTTC TCCCTGTTCTGCTCTCTCTGTGTCTGTCTCTCTCTCTCTCTCTCTGTCTC TCCCCGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTCTCTGTCTCTGTC TGCCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTGTCTCTCCCTGTTCT GC	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2634		chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586449	C C	CGGGGGGG others(529): Show CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0004 a0009c0011t0004	a0009c0011t0004g0054 a0009c0011t0004g0054	1	308	0.0033	536	c.157 others(553): Show c.1576+249_1576+250insGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCAGTGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(529): Show GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGG GAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG GAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGG AAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0070 a0001c0001t0049g0070	1	96	0.0104	536	c.-16 others(557): Show c.-168+57738_-168+57739insGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTTCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GMDS_chr6_1618806_2250605	1927182	T T	TATTCGAA others(529): Show TATTCGAAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTG GTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGG TAGCATGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTT ATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTG GTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGG TAGCGTGTTGTATTTTTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATT CAGAGGTTAGCGTGTTGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTG TATTTTTATTCAGAGGGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAG CATGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTTATT CAGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAGGGTAGCGTGTTGCTG TATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01952.hp1 others(16): Show HG01243.hp1 HG01433.hp2 HG01952.hp1 HG02135.hp1 HG02273.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03710.hp1 NA18941.hp1 NA18961.hp1 NA18979.hp1 NA18994.hp2 NA18998.hp2 NA19009.hp1 NA19043.hp2 NA19082.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0087 others(16): Show a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0002t0001g0005 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0131 a0001c0002t0001g0145 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0002g0144 a0001c0004t0001g0165	19	166	0.1145	536	c.771 others(553): Show c.771+2920_771+2921insCAAAATACAGCAACATGCTACCCTCCGA ATAAAAATACAGCAACACGCTACCCTCCGAATAAAAATACAGCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACATGCTACCCTCTGAATAAAAATACATCCACACCCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTTCGAATAAAAATACATCAACACGC TAACCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATAC AACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATA AAAATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTAC CCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACC AACATGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATA AAAATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACC CTTCGAAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(529): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGCGGGTGGGGGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTGT GGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGG TGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGGA AGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGT GAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAG GGTGTGGGGTGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGGAT GTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0265 a0001c0001t0008g0265	1	330	0.0030	536	c.-10 others(553): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCCCACACACACCCCCA CCCCACACCCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCACA CTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACC CCACACCCTTCCACACTCACACTCACCCCCACCCCACACCCTCCCATGCT CTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCC CACTCTCCCACAGTCACACCCCCACCCCACACCCTCCCACACTCACACTC ACCCCCACACCCTCCCACACTCATGCTCACCCCCATCCCACACCCTCCCA CACTCTCACCCCACCCCACACCCTCCCACACTCACACCCGTACCCCACAC TCTCCCACACTCACCCCCACCCGCACCCCACACCCTCCCACACTCACGCT CACCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTCA CACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(529): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGGGGGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTGT GGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGG TGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGGA AGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGT GAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAG GGTGTGGGGTGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGGAT GTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(135): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19065.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0035 a0001c0001t0042 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0086 a0001c0001t0087 a0001c0001t0099 a0001c0001t0107 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016	a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 others(135): Show a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0313 a0001c0001t0003g0050 a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0277 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0005g0039 a0001c0001t0005g0121 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0167 a0001c0001t0005g0182 a0001c0001t0005g0218 a0001c0001t0005g0254 a0001c0001t0005g0291 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0006g0105 a0001c0001t0006g0317 a0001c0001t0007g0043 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0119 a0001c0001t0007g0123 a0001c0001t0007g0196 a0001c0001t0007g0197 a0001c0001t0007g0212 a0001c0001t0007g0283 a0001c0001t0008g0021 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0008g0234 a0001c0001t0008g0241 a0001c0001t0008g0321 a0001c0001t0008g0323 a0001c0001t0010g0048 a0001c0001t0010g0094 a0001c0001t0010g0122 a0001c0001t0010g0139 a0001c0001t0010g0143 a0001c0001t0010g0173 a0001c0001t0010g0216 a0001c0001t0014g0256 a0001c0001t0015g0190 a0001c0001t0015g0199 a0001c0001t0015g0280 a0001c0001t0018g0152 a0001c0001t0018g0272 a0001c0001t0021g0075 a0001c0001t0021g0084 a0001c0001t0023g0074 a0001c0001t0023g0276 a0001c0001t0030g0171 a0001c0001t0035g0002 a0001c0001t0042g0118 a0001c0001t0047g0068 a0001c0001t0048g0223 a0001c0001t0049g0037 a0001c0001t0050g0062 a0001c0001t0065g0090 a0001c0001t0067g0208 a0001c0001t0069g0085 a0001c0001t0071g0286 a0001c0001t0074g0083 a0001c0001t0075g0060 a0001c0001t0076g0076 a0001c0001t0077g0042 a0001c0001t0078g0061 a0001c0001t0079g0082 a0001c0001t0080g0299 a0001c0001t0081g0240 a0001c0001t0082g0027 a0001c0001t0086g0026 a0001c0001t0087g0140 a0001c0001t0099g0229 a0001c0001t0107g0327 a0001c0002t0002g0106 a0001c0002t0002g0120 a0001c0002t0002g0126 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0161 a0001c0002t0002g0282 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0013g0091 a0001c0002t0013g0242 a0001c0002t0013g0244 a0001c0002t0013g0245 a0001c0002t0016g0191	138	330	0.4182	536	c.-10 others(553): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACACACCCCACCCCACACCCTCCCACACACACCCCCA CCCCACACCCTCCCACACTCACATTCACCCCCACCCCACACCCTCCCACA CTCACATTCACCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACC CCACACCCTTCCACACTCACACTCACCCCCACCCCACACCCTCCCATGCT CTCACCCCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCC CACTCTCCCACAGTCACACCCCCACCCCACACCCTCCCACACTCACACTC ACCCCCACACCCTCCCACACTCATGCTCACCCCCATCCCACACCCTCCCA CACTCTCACCCCACCCCACACCCTCCCACACTCACACCCGTACCCCACAC TCTCCCACACTCACCCCCACCCCCACCCCACACCCTCCCACACTCACGCT CACCCCCTACCCCACACCCAGACACACACCCACACACACCCATACTCTCA CACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(529): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCCATCCGTCCATCCAT CTATCCATCCATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCTATCCATTTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCCTGGATCCATCTGTCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTAT CCATCCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCC ATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCAT CTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0060 a0001c0001t0028g0060	1	328	0.0031	536	c.283 others(553): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCCATCCGTCCATCCATCTATCC ATCCATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATCCATCCATCTATCCATTTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCC ATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCAT CCCTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCC ATTTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATGCATGCATGCATCCATCCATCCATCCAT CCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(529): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTAT CCATCCATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCATCCATCCATCTATCCATTTATCCATCGAT CCATCCATCCATCCATCCATCCATCCCTGGAACCATCTGTCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC CTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCAT TTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATGCATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0038 a0001c0001t0027g0038	1	328	0.0031	536	c.283 others(553): Show c.283+5230_283+5231insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCC ATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAC CCACCCACCCATCCATCCATCTATCCATTTATCCATCGATCCATCCATCC ATCCATCCATCCATCCCTGGAACCATCTGTCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATGCATGCATCCATCCATCCATCCATCCAT CCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
HCN2_chr19_584881_622159	602095	T T	TCCTCCTC others(529): Show TCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCC TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0008 a0001c0101t0008	a0001c0101t0008g0024 a0001c0101t0008g0024	1	408	0.0025	536	c.633 others(553): Show c.633-1444_633-1443insTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar

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Search Results (Total: 10000 hits)