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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Select column to sort.

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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
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(615): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATCATATATATCATATATATCATATAT ATCATATATATCATATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATATTATATATTATATATCATATATATCATAT ATATTATATATCATATATCATATATATCATATATATTATATATCATATAT CATATATATCATATATATTATATATCATATATCATATATATCATATATAT TATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0048 a0003c0006t0004g0048	1	236	0.0042	622	c.-22 others(633): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATAATATATATGATATATATGATATATGATAT ATAATATATATGATATATATGATATATGATATATAATATATATGATATAT ATGATATATAATATATAATATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATATGATATATATGATATATGATATATATGATATATATGATATATGATAT ATATAATATATGATATATATGATATATGTGATATATGATATATATGATAT ATGTGATATATGTGATATATGATATATGTGATATATGTGATATATGATAT ATGTGATATATGTGATATATGATATATGTGATATATGATAATGATATGAT ATATATGATATGATATATATGATAGATCATATATGATCTCATATATATGA TATATATGATATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(615): Show ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT GTATATTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTATATATATATACATATAAATATATATTTATATACA TATAAATATATAATTATATACATATAAATATATAATTATATACATATAAA TATATATAATTATATACATATAAATATATATTTATATACATATAAATATA TATTTATATACATATAAATTTATATACATATAAATATAAATATTTATATT TATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0001 a0019c0045t0001	a0019c0045t0001g0220 a0019c0045t0001g0220	1	292	0.0034	622	c.49 others(633): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAAATATATATTTATATGTATATAATTATATATATTTATATGTAT ATAATTATATATTTATATGTATATAATTATATATTTATATGTATATAAAT ATATATTTATATGTATATATATATAAATATATATATATTTATATATATAT AAATATATATAAATATATATATTTATATGTATATAAATATATATTTATAT GTATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTAT GTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAAT ATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATAT TTATATGTATATAAATATATATATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATATTTATATGTATATAATATACATACATATATA TTTATATGTATATACATATATATTTATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
GEMIN4_chr17_739421_757264	753305	C C	CGAAGGAA others(615): Show CGAAGGAAGTGGGGGGCATGGAGCGCGAACAAAGGGGCGTGCAAGATGGA CGCCATGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGT GGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGG GGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGGGCGTG GAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGG CCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAAC AAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAGAGTGAG ATGAGGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCA AGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAG GAAGTGGGGGGCATGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCA TGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGG GCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTA CGCGGCCAGAGTGAGGAGATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0033 a0015c0020t0001g0033	1	434	0.0023	622	c.-11 others(633): Show c.-1164_-1163insCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCAT GGCGTCCATCTTGGACGCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCC TTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATC TTGCACGCCCCTTTGTTCGCGCTCCATGCCCCCCACTTCCTTCGTCAGCT CCTCCACTTTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGCACGCCCCT TTGTTCGCGCTCCACGCCCCCCACTTCCTTCTTCCTCATCTCACTCTGGC CGCGTAGCCCCTCATGGCGTCCATCTTGGACGCCCCTTTGTTCGCGCTCC ACGCCCCCCACTTCCTTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCCC CTCATGGCGTCCATCTTGCACGCCCCTTTGTTCGCGCTCCACGCCCCCCA CTTCCTTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGT CCATCTTGGACGCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCCTTCTT CCTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGCA CGCCCCTTTGTTCGCGCTCCATGCCCCCCACTTCCTTC	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding		1042		chr17	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(615): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATATA TTTATATATATAAATATATATATTTATATATATAAATATATATATATTTA TATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTA TATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAA TATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	208	0.0048	622	c.-97 others(639): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTAT ATATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(615): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	408	0.0025	622	c.633 others(639): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(615): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGC CACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAG GGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCA AGCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0288 a0005c0007t0005g0288	1	390	0.0026	622	c.251 others(639): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGGTGCCCTC TCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGA GCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGA GTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGG GTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGG TGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCA TCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCC TCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTT GTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTG GTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(615): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACACCACACACACAACAGACCACACATACACACA CCACAAACACAACCACACACACCACACCATACACACACACCATACACGCA CCACACACACACCACATACACACTTCACACACACCACACACCACACAAAT CACACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0053 a0001c0004t0006g0053	1	300	0.0033	622	c.203 others(639): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTG GTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGTGTGGTG TGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGT GTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGG CGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTG TGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATG TGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGT GTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGTGTGTG TGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTGGTGTG TGAGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(615): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCT GGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAATTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGG AGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCT GGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGG GGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGC GGGGGCTCTGGAGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp2 HG02615.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0023 a0003c0005t0013 a0003c0005t0023	a0003c0005t0013g0036 a0003c0005t0023g0245 a0003c0005t0013g0036 a0003c0005t0023g0245	2	282	0.0071	622	c.623 others(639): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGC TGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGG GGCTCAGGAGGGAGAGGTGGAATTCGGTGGGGAGGCAGGGCTCAGGGGGG AGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCG GGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG GGCTCTGGAGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(615): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	375	0.0027	622	c.-22 others(633): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCA GAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGC AGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149476	T T	TCTCCTCA others(615): Show TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCTCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACC ACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTGTCCTCC TCACACACCACACAGCCCACACCCCTCTCCTCACACCACACAGCTCACAC CCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCAC ACAGCTCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCC TCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACAC ACCACACAGCCCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0229 a0002c0001t0001g0229	1	308	0.0033	622	c.66 others(633): Show c.6686_*6687insCTCCTCACACACCACACAGCTCACACCCCTCTCC TCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACCACAGAGCCC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTC TCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCT CACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTC ACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACA CCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTC TCCTCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACCACAGAG CCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACA CACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCC CTCTCCTGCTCACACACCACACAGCCCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3885		chr1	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(615): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATATTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATATAAATATATTTATATATATAAATATAAATATTTATATATATTTAT ATATATTTATATATATATTTATGTATATTTATATATATTTATATATATAT TTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18975.hp1 HG02735.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0003g0177 a0001c0001t0001g0040 a0001c0001t0003g0177	2	260	0.0077	622	c.125 others(639): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATATTTATATATATTTATATATAGTTATATATATTTATGTATAGTTAT ATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTT ATGTATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATTTATATATATAGTTATATATTTATATAT ATTTATATATATTTATATATATATTTATATATTTATTTATATATATTTAT ATATGTATTTATATATATTTATATATATTTATATGTATTTATATATATTT ATATATATTTATATATATATATATAAATATATTTATATATATAAATATAA ATATTTATATATATTTATATATATTTATATATATATTTATGTATATTTAT ATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(615): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACC CGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	394	0.0025	622	c.-8+ others(635): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(615): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0141 a0001c0010t0001g0141	1	394	0.0025	622	c.-8+ others(635): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAG GGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663119	T T	TCATCCTC others(615): Show TCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCT CATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTC TACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATC TACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCC TCCCCACCCGTCCTGTCCACATTCTACACAGTCTCCAATCTACCCTCCCC ACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCTCTCCACCCA TCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTG TCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTC ATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCT ACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACA GCCTCCAATCTACCCTCCCCACCCGTCCTGTCCACATTCTACACAGTCTC CAATCTACCCTCCCCACCCACCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG03139.hp2 others(2): Show HG02109.hp2 HG02818.hp1 HG03139.hp2 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 others(2): Show a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106	5	410	0.0122	622	c.287 others(639): Show c.287+1756_287+1757insGGGTGGGTGGGGAGGGTAGATTGGAGAC TGTGTAGAATGTGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGT AGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA CAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGACAGGA CGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGATGGGT GGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGA GGGTAGATTGGAGACTGTGTAGAATGTGGACAGGACGGGTGGGGAGGGTA GATTGGAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATG AGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGAC AGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NCK2_chr2_105739912_105899272	105755743	T T	TGCCCATA others(615): Show TGCCCATATGGACATTTGGCGACGTCTGGAGATATTTTTAATTGTCATGC CTGTGGGGTGCTACTGGCGTTTAGTGGGATGGTAGACGAGGGATGCTACT AAATATCCTGCAATGTATAGGACAGCCTCCACAACAAAGAATTAACTAGC TCAAAATGTCAGTATTTAAGCAACCTTGATATAAGTGAACGCTGCTCCGC TTTTTTTAAATGTTTAAGTCAGGGGCACATGCATTCCTTCACACAGTTGC CTTTGGAGATCAATTTCTTTTCTTCCATTTTAATAAACATAGTGAAAAAA TACATATGTAGAGATCTAAACACAATTTACACATGTGTGCGGTTAAATAG GTAAAGGAGAAACTGTCACGTAACTGACTTAGCCATGTTTTTTGTTTATC TGTAATAACGTTAGTGTTAAAGTAATGGCATACATTACTTTTTTATTTTC TCATTCAACATATTTGGACCATAAACATACAAAATGCTGATTTTGCGGGA AACATTTTGATATCCGGCTGGGATGTGATAAGAGTACATTCCCCTCAGAA TGCCCACTGATGTGGAAGTAATGAGGGAGCTTTTATCAATTACTTTTAAT AAGTAATTGATTTTCAGAGTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	334	0.0030	622	c.-20 others(643): Show c.-201+10608_-201+10609insCATATGGACATTTGGCGACGTCTG GAGATATTTTTAATTGTCATGCCTGTGGGGTGCTACTGGCGTTTAGTGGG ATGGTAGACGAGGGATGCTACTAAATATCCTGCAATGTATAGGACAGCCT CCACAACAAAGAATTAACTAGCTCAAAATGTCAGTATTTAAGCAACCTTG ATATAAGTGAACGCTGCTCCGCTTTTTTTAAATGTTTAAGTCAGGGGCAC ATGCATTCCTTCACACAGTTGCCTTTGGAGATCAATTTCTTTTCTTCCAT TTTAATAAACATAGTGAAAAAATACATATGTAGAGATCTAAACACAATTT ACACATGTGTGCGGTTAAATAGGTAAAGGAGAAACTGTCACGTAACTGAC TTAGCCATGTTTTTTGTTTATCTGTAATAACGTTAGTGTTAAAGTAATGG CATACATTACTTTTTTATTTTCTCATTCAACATATTTGGACCATAAACAT ACAAAATGCTGATTTTGCGGGAAACATTTTGATATCCGGCTGGGATGTGA TAAGAGTACATTCCCCTCAGAATGCCCACTGATGTGGAAGTAATGAGGGA GCTTTTATCAATTACTTTTAATAAGTAATTGATTTTCAGAGTTTGGCC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEDD4L_chr18_58039226_58406539	58209310	T T	TCGTCCTC others(615): Show TCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTC CCCCTCCACCTCCCCTCCGCCTCCTCCTCCCTCTCCTCCTCCCCCTCCAC CTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTTCTCAACCTC CGCCTCCCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTGTTCCT CCTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCC TCCTCCTCCACCTCCAACTCCACCTCCTCATCTGCACCTCCACGTCCTCC TCCCCCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCTC CTCCACCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCACCTCCACCTCCT CCTCCTCATCCTCCACCTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCC TCCTCCTCCACCTCCTCCTCCTCATCCTCCATCCCCTCCTCCTCCACTTC TGCCTCCACCTCCTCCTCCTCATCCTGCACTTCCCCCTCCTCCTCCCCCT CCTCCACCTCCTCCTCCTCATCCTCCACCCGCTCCTCCTCATCCTCCACC TCCACCTCCTCTTCCACCTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0092 a0001c0001t0007g0092	1	118	0.0085	622	c.123 others(641): Show c.123-36116_123-36115insGTCCTCTACCTCCTCCTCCTCCACCA CCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCTCCGCCTCCTCCT CCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCACCTCCTCCC CCACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCC ACCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTC CTCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCAACTCCACCTCCT CATCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCA CCTCCTCAACCTCCTCCTCCTCCTCCACCTCCCCCTCCTCCCCCTCCTCC TTAACCTCCACCTCCACCTCCTCCTCCTCATCCTCCACCTCCACCTCCTC CTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCCT CCATCCCCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGC ACTTCCCCCTCCTCCTCCCCCTCCTCCACCTCCTCCTCCTCATCCTCCAC CCGCTCCTCCTCATCCTCCACCTCCACCTCCTCTTCCACCTCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(615): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCCTCTTCCTC TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	268	0.0037	622	c.-90 others(631): Show c.-900_-899insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(615): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0246 a0001c0006t0001g0246	1	294	0.0034	622	c.902 others(637): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535944	A A	AGGGGAGC others(615): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0310 a0001c0007t0009g0310	1	324	0.0031	622	c.140 others(639): Show c.140+8079_140+8080insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCA CCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGC ACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCC ACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPCML_chr11_132409981_133537501	133437674	G G	GCTCACCT others(615): Show GCTCACCTCTCCCCTCTCAACCCCGCTGACCTCTCCCCTTTGCAACCCCT CTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCTCAACCCCGCT CACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCAC CTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACC TCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAACCCCTCTCACCTC TCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAACCCCGCTCACCTCT CCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCC CCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCC TCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCCTCTCACCTCTCCCCT CTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTCA ACCCCTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTCAACCC CTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTC TCACCTCTCCCCTCTCAACCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	68	0.0147	622	c.61+ others(639): Show c.61+94589_61+94590insAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTTGAGA GGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTTGAGAGGGG AGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTGAGCGGGGTTGAGAGGGGA GAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGA GGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGG TGAGCGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTTAGAGGGGAGAGGT GAGAGGGGTTGAGAGGGGAGACGTGAGAGGGGTTGAGAGGGGAGAGGTGA GAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTGAGGGGAGAGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGG GGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGG TTGCAAAGGGGAGAGGTCAGCGGGGTTGAGAGGGGAGAGGTGAG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(615): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGAGGGAGGCGGGGGGGGGGGGGGG GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC CGCCCCTACTGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	155	0.0065	622	c.155 others(641): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCACCTCCCTCCTGGA CGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCAGTAGGGGCGGCC GGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC CCCCCCCCCCCCGCCTCCCTCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(615): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATACATGTATTACATATATGTAATACAT ATATAACATACATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	622	c.70 others(633): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATACATGTATTAC ATATATGTAATACATATATAACATACATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(615): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	622	c.70 others(633): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(615): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 NA18612.hp1 others(2): Show HG02040.hp1 HG02071.hp1 NA18612.hp1 NA18982.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0002c0002t0003	a0001c0001t0001g0007 a0001c0001t0003g0053 a0001c0001t0003g0054 others(2): Show a0001c0001t0001g0007 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0033g0067 a0002c0002t0003g0068	5	366	0.0137	622	c.-19 others(643): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(615): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA20805.hp2 HG01981.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0021 a0002c0002t0003g0066 a0002c0002t0003g0021 a0002c0002t0003g0066	2	366	0.0055	622	c.-19 others(643): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46404099	C C	CGGCGCGT others(615): Show CGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCG GTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGCGGCGCGT GCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGTGGTGCCCACGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0003 a0004c0023t0003	a0004c0023t0003g0093 a0004c0023t0003g0093	1	332	0.0030	622	c.511 others(641): Show c.5115+1639_5115+1640insCAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCG GTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGCGGCGCGT GCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGTGGTGCCCACGTGGCGCGTGCTCGGTGAATGAACA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(615): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACC CGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	376	0.0027	622	c.15 others(633): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(615): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACC CGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0152 a0003c0003t0019g0152	1	376	0.0027	622	c.15 others(633): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(615): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0162 a0004c0006t0001g0162	1	376	0.0027	622	c.15 others(633): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(615): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCACCCCATGATTAGGGCCCAT TCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCATG TTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAG GGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTT TAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGT GCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTA GGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGC CGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGG GCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02723.hp1 HG02895.hp1 others(10): Show HG01516.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp1 HG04228.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0002c0002 a0001c0003 a0001c0010 a0002c0002	a0001c0003t0004 a0001c0003t0011 a0001c0003t0027 others(8): Show a0001c0003t0004 a0001c0003t0011 a0001c0003t0027 a0001c0003t0045 a0001c0003t0109 a0001c0003t0112 a0001c0003t0113 a0001c0010t0019 a0001c0010t0046 a0002c0002t0108 a0002c0002t0110	a0001c0003t0004g0019 a0001c0003t0011g0103 a0001c0003t0011g0107 others(10): Show a0001c0003t0004g0019 a0001c0003t0011g0103 a0001c0003t0011g0107 a0001c0003t0011g0108 a0001c0003t0027g0102 a0001c0003t0045g0057 a0001c0003t0109g0069 a0001c0003t0112g0034 a0001c0003t0113g0033 a0001c0010t0019g0049 a0001c0010t0046g0050 a0002c0002t0108g0075 a0002c0002t0110g0076	13	342	0.0380	622	c.56 others(633): Show c.5634_*6255dupATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTGCGGCACTCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(615): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCACCCCATGATTAGGGCCCAT TCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCATG TTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAG GGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTT TAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGT GCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTA GGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGC CGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGG GCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA20129.hp1 HG02630.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0046 a0001c0003t0047g0047 a0001c0003t0047g0046 a0001c0003t0047g0047	2	342	0.0059	622	c.62 others(633): Show c.6255_*6256insATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTGCGGCACTCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PIGN_chr18_62036164_62192056	62039954	G G	GCACATCA others(615): Show GCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGG CCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGTGCCG CACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGC CCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCA ACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCC CATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCAGAGTGCCGCAC CCCATGATTAGGGCCCATTCAGGGTGCCGCACCCCATGTTTAGGGCCCAT CCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACATC ATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCATCC AGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCAT GTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAG GGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGT TTAGGGCCCCATCCAGGGTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03195.hp1 HG01243.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0079 a0001c0003t0080 a0001c0003t0079 a0001c0003t0080	a0001c0003t0079g0065 a0001c0003t0080g0071 a0001c0003t0079g0065 a0001c0003t0080g0071	2	342	0.0059	622	c.59 others(633): Show c.5901_*5902insTGGCACCCTGGATGGGGCCCTAAACATGGGGTGC GGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGCC CTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGG CATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGGGCCCT AAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCA CCCTGGATGGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGCCCTAA ACATGGGGTGCGGCACCCTGAATGGGCCCTAATCATGGGGTGCGGCACTC TGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAAC ATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCT GGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACAT GGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGG ATGGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATG GGGTGCGGCACCCTGGATGGGGCCCTAAACATGATGTG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1209		chr18	TogoVar
PIGN_chr18_62036164_62192056	62039992	C C	CCATGTTT others(615): Show CCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCA TCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCC CATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGC CAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGAGTGCCGCACCCCATGATTAGGGCCCATTCAGGGTGCCGCACCCCATG TTTAGGGCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGG GTGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTT TAGGGCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGAT GCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTA GGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGC CGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCACACATCATGTTTAGG GCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0078 a0001c0003t0078	a0001c0003t0078g0064 a0001c0003t0078g0064	1	342	0.0029	622	c.58 others(633): Show c.5863_*5864insATGTGCGGCACCCTGGATGGGGCCCTAAACATGA TGTGTGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGCACCCTGGAA GGGGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGCCCTAAACATGGGG TGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGGCATCGTCGATGG GGCCCTAAACATGGGGTGCGGCACTCTGGATGGGCCCTAAACATGGGGTG CGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGGG CCCTAAACATGGGGTGCGGCACCCTGGATGGGCCCTAAACATGGGGTGCG GCACCCTGAATGGGCCCTAATCATGGGGTGCGGCACTCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGCCCTA AACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGGCAT CGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGGGGCCCTAA ACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1171		chr18	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGCGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGAAGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCTTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00621.hp2 others(54): Show HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02451.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp2 NA18969.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1 NA19090.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0002 a0005c0008 a0010c0022 a0002c0002 a0005c0008 a0010c0022	a0002c0002t0001 a0005c0008t0001 a0010c0022t0001 a0002c0002t0001 a0005c0008t0001 a0010c0022t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0032 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0032 a0005c0008t0001g0016 a0010c0022t0001g0037	57	382	0.1492	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTGGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACCACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207808	T T	TCCTGGGT others(615): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGC CTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACT CCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGGCCTGGGGGCCTGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(113): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03041.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0021 a0025 a0036 a0041 a0044	a0001c0001 a0001c0018 a0001c0042 others(30): Show a0001c0001 a0001c0018 a0001c0042 a0001c0121 a0002c0002 a0002c0005 a0002c0024 a0002c0043 a0003c0003 a0003c0102 a0003c0118 a0004c0008 a0004c0111 a0005c0040 a0005c0094 a0005c0096 a0006c0017 a0007c0012 a0007c0045 a0008c0015 a0008c0027 a0009c0009 a0009c0110 a0011c0020 a0011c0038 a0012c0025 a0014c0044 a0015c0097 a0021c0086 a0025c0085 a0036c0109 a0041c0087 a0044c0048	a0001c0001t0001 a0001c0001t0008 a0001c0018t0001 others(31): Show a0001c0001t0001 a0001c0001t0008 a0001c0018t0001 a0001c0042t0001 a0001c0121t0001 a0002c0002t0002 a0002c0005t0002 a0002c0024t0002 a0002c0043t0002 a0003c0003t0003 a0003c0102t0003 a0003c0118t0003 a0004c0008t0002 a0004c0111t0002 a0005c0040t0001 a0005c0094t0001 a0005c0096t0001 a0006c0017t0001 a0007c0012t0001 a0007c0045t0001 a0008c0015t0001 a0008c0027t0001 a0009c0009t0003 a0009c0110t0002 a0011c0020t0003 a0011c0038t0004 a0012c0025t0001 a0014c0044t0001 a0015c0097t0003 a0021c0086t0001 a0025c0085t0003 a0036c0109t0002 a0041c0087t0001 a0044c0048t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0162 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0008g0041 a0001c0018t0001g0239 a0001c0042t0001g0260 a0001c0121t0001g0272 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0005t0002g0276 a0002c0024t0002g0230 a0002c0024t0002g0231 a0002c0043t0002g0250 a0002c0043t0002g0280 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0031 a0003c0003t0003g0215 a0003c0003t0003g0242 a0003c0003t0003g0244 a0003c0003t0003g0245 a0003c0102t0003g0246 a0003c0118t0003g0281 a0004c0008t0002g0249 a0004c0008t0002g0307 a0004c0111t0002g0259 a0005c0040t0001g0285 a0005c0094t0001g0236 a0005c0096t0001g0240 a0006c0017t0001g0011 a0006c0017t0001g0228 a0007c0012t0001g0221 a0007c0012t0001g0222 a0007c0012t0001g0225 a0007c0045t0001g0223 a0007c0045t0001g0224 a0008c0015t0001g0212 a0008c0015t0001g0213 a0008c0015t0001g0247 a0008c0015t0001g0248 a0008c0027t0001g0261 a0009c0009t0003g0251 a0009c0110t0002g0284 a0011c0020t0003g0286 a0011c0038t0004g0287 a0012c0025t0001g0235 a0014c0044t0001g0219 a0014c0044t0001g0220 a0015c0097t0003g0243 a0021c0086t0001g0226 a0025c0085t0003g0038 a0036c0109t0002g0254 a0041c0087t0001g0227 a0044c0048t0001g0217	116	378	0.3069	622	c.52- others(635): Show c.52-610_52-609insCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGAC CCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGC CCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAG GAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCC AGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCC TCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAAT CCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAAC CTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCA GACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACC AGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207842	G G	GACCTCTG others(615): Show GACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTG AGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCT GGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGG AGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGG GGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCT GGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGG AGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTC TGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAG GTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCTCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01928.hp2 others(6): Show HG00544.hp2 HG00738.hp2 HG01928.hp2 HG01978.hp2 HG02155.hp2 NA18612.hp1 NA18971.hp1 NA18984.hp2 NA19000.hp1	a0001 a0002 a0031 a0001 a0002 a0031	a0001c0001 a0002c0002 a0031c0105 a0001c0001 a0002c0002 a0031c0105	a0001c0001t0001 a0002c0002t0002 a0031c0105t0001 a0001c0001t0001 a0002c0002t0002 a0031c0105t0001	a0001c0001t0001g0292 a0001c0001t0001g0294 a0002c0002t0002g0012 others(4): Show a0001c0001t0001g0292 a0001c0001t0001g0294 a0002c0002t0002g0012 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0031c0105t0001g0293	9	378	0.0238	622	c.52- others(635): Show c.52-644_52-643insTGAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCC CTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCC TCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAAC CAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTAC TCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAG GAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207916	C C	CTCCTGGG others(615): Show CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTC CTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGG GCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGATTCCTGG GTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCT GGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCT GAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGG CTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGAC TCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGG GAGTAGGGGCTGGGGGCCTGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0020 a0020	a0020c0089 a0020c0089	a0020c0089t0001 a0020c0089t0001	a0020c0089t0001g0296 a0020c0089t0001g0296	1	378	0.0027	622	c.52- others(635): Show c.52-718_52-717insATCCAGGCCCCCAGCCCCTACTCCCTCAGACC CAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCC CCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTC CCTCAGACCCAGGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGG AGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCA ACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATC CAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCT CTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGAC CCAGGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGG CCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGA	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208091	G G	GGGTCTGG others(615): Show GGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTC TGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAG GAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGT CTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTT GGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTG AGTCTGAGGGAGGAGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0302 a0009c0009t0003g0302	1	378	0.0027	622	c.52- others(635): Show c.52-893_52-892insTCCAGCCCCTCCTCCCTCAGACTCAGGAGTCC AGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGAC CCAGGAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGA CCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCC TCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAG GCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCC AGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCC TCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGC CCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAG ACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAG ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(615): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCCTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCCCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCT CCCTCCCTCTCTCCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	62	0.0161	622	c.88+ others(639): Show c.88+93818_88+93819insAAAGGAAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGGAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAGGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGT GGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGT GGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(615): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCCCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCT CCCTCCCTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03209.hp2 NA19030.hp2 others(1): Show HG00741.hp1 HG03209.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0002 a0002c0015 a0003c0006 others(1): Show a0001c0002 a0002c0015 a0003c0006 a0009c0017	a0001c0002t0002 a0002c0015t0001 a0003c0006t0008 others(1): Show a0001c0002t0002 a0002c0015t0001 a0003c0006t0008 a0009c0017t0017	a0001c0002t0002g0058 a0002c0015t0001g0013 a0003c0006t0008g0054 others(1): Show a0001c0002t0002g0058 a0002c0015t0001g0013 a0003c0006t0008g0054 a0009c0017t0017g0022	4	62	0.0645	622	c.88+ others(639): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGGAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGT GGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGT GGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(615): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCTCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCT CCCTCCCTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0043 a0001c0003t0002g0043	1	62	0.0161	622	c.88+ others(639): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGGAGGAGGAGAGAGGTGAGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGT GGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGT GGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(615): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGG GGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18982.hp2 NA18970.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0165 a0001c0001t0001g0115 a0001c0001t0001g0165	2	295	0.0068	622	c.809 others(639): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGTGCAGGGAA GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTG GGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPH3AL_chr17_207389_357807	304160	A A	AGATGGGG others(615): Show AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCCTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAAGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTC AGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTG GGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACC GTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAA TAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGA GGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAA AGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGC AGTGACCGTGTCTCAGGAAAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	133	0.0075	622	c.351 others(641): Show c.351+15259_351+15260insCTCTTTCCTGAGACACGGTCACTGCT CAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTC CTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCC CTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTA AAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGT CACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAC CTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTAC AGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATA ATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACT TCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAGGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(615): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATAATTTTAC AACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02559.hp1 HG02572.hp2 others(3): Show HG01952.hp1 HG02559.hp1 HG02572.hp2 HG02976.hp1 HG03041.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0018 a0001c0001t0001 a0001c0001t0005 a0001c0002t0018	a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0108 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0005g0072 a0001c0001t0005g0114 a0001c0002t0018g0091	6	170	0.0353	622	c.59- others(639): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATACACACA CACACACACACACACACACATATACATACACATATATATGTGTGTATATA TACATGTATATATATGTATGTATATATGTGTATATATACATGTATATATG TATGTATATATACGTGTATATTATGTATATATATACACATGATATATATG TATGTATATATCATGTATATATATACATATATGTGTATATATACACGATA TATATGTGTATATATCATGTATATATATACATGTATACAATATATTATAT ATACATATATATTATATACATGTATATATACCTGTATACAATATATTATA TATACGTGTATATAATATATATACACGTATATATATTGTATACACGTATA TATAATATATACTTTATATATAATATATACATGTATATATATACTATATA TTATATATTAATATATACATGTATAATATATACATGTATATATTATATAT ACATATATATGTATATATAATATATACATATATGTACATATAATATACAT GTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(615): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATATATATATATATATATATATATAATTTTAC AACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 HG02809.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0117 a0001c0001t0005g0073 a0001c0001t0001g0117 a0001c0001t0005g0073	2	170	0.0118	622	c.59- others(639): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATACACACACA CACACACACACACACACACATATACATACACATATATATGTGTGTATATA TACATGTATATATATGTATGTATATATGTGTATATATACATGTATATATG TATGTATATATACGTGTATATTATGTATATATATACACATGATATATATG TATGTATATATCATGTATATATATACATATATGTGTATATATACACGATA TATATGTGTATATATCATGTATATATATACATGTATACAATATATTATAT ATACATATATATTATATACATGTATATATACCTGTATACAATATATTATA TATACGTGTATATAATATATATACACGTATATATATTGTATACACGTATA TATAATATATACTTTATATATAATATATACATGTATATATATACTATATA TTATATATTAATATATACATGTATAATATATACATGTATATATTATATAT ACATATATATGTATATATAATATATACATATATGTACATATAATATACAT GTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SART1_chr11_65956734_65985137	65971120	T T	TGAGGAGG others(615): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGA AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp1 others(25): Show HG00099.hp2 HG00140.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp2 HG01361.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 NA18945.hp1 NA18951.hp2 NA18961.hp2 NA18969.hp1 NA18974.hp2 NA18985.hp1 NA19004.hp2 NA19011.hp1 NA19063.hp2 NA19087.hp2 NA19088.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0011 a0002c0001t0001g0074 others(14): Show a0002c0001t0001g0003 a0002c0001t0001g0011 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0149 a0002c0001t0001g0150	28	384	0.0729	622	c.157 others(641): Show c.1572+3300_1572+3301insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(615): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	290	0.0035	622	c.166 others(639): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)