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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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
CBFA2T3_chr16_88869858_88982207	88954624	TCCACCCA others(1057): Show TCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGC TCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTAC CCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTG ACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAG GCTCCTGACCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTC AGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCC TGACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGCCA AGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACT CCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCT CCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACC CAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGA CCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGG CTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCA TCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGCCAAGGCTCCT GACCCCGCCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACTCCACCCAA GGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCC CACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTC CTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCC AAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGAC CCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGC TCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAC CCAAGGCTCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	284	0.0035	-1064	c.151 others(19): Show c.151+20969_151+22032del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDH4_chr20_61247261_61945617	61783486	CTGTGCCC others(1057): Show CTGTGCCCCCGAAAGAAATGTAATCCCAGTTCCTTGGGATAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCTGGGAGAAATGTAAGCCCAGTTCCTCAG GACAGTTCTCGAGGCCCTCAGATGTCCTGTGCTCCCAGGAGAATATAAGC CTAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAA GAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCCGGGCCCTCAGATGT CCTGTGCCCCCGGGAGAAATGTAAGCCTAGTTCCTCGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAA TCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAA TCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAT CCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCA AGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATA TCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGA GGCCCTCAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02965.hp2 HG02451.hp2 HG02922.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0054 a0002c0002t0004 a0001c0003t0001 a0001c0003t0054 a0002c0002t0004	a0001c0003t0001g0020 a0001c0003t0054g0086 a0002c0002t0004g0068 a0001c0003t0001g0020 a0001c0003t0054g0086 a0002c0002t0004g0068	3	106	0.0283	-1064	c.576 others(19): Show c.576+10314_576+11377del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(1057): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	340	0.0029	-1064	c.641 others(16): Show c.641-1510_641-447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818525	ATGTACCG others(1057): Show ATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGG CGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGA GGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGG GGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp2 others(34): Show HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0003 a0001c0004 a0001c0006 others(7): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0001c0020 a0002c0010 a0003c0024 a0008c0026	a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 others(7): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0018t0001 a0001c0020t0003 a0002c0010t0001 a0003c0024t0001 a0008c0026t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(34): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0130 a0001c0004t0001g0157 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0006t0001g0154 a0001c0006t0001g0155 a0001c0006t0001g0159 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0055 a0001c0007t0001g0082 a0001c0008t0001g0150 a0001c0008t0001g0156 a0001c0008t0001g0158 a0001c0018t0001g0062 a0001c0020t0003g0149 a0002c0010t0001g0126 a0003c0024t0001g0074 a0008c0026t0001g0167	37	170	0.2177	-1064	c.354 others(18): Show c.3540+413_3540+1476del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAD1L1_chr7_1810795_2237945	1991112	CGAGCACC others(1057): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC CGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTG AGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGG TGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGC CACTGCTGGCCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	264	0.0038	-1064	c.141 others(20): Show c.1416+9889_1417-10572del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
SYT16_chr14_61807703_62117550	61826068	ATTTGTTT others(1057): Show ATTTGTTTTTATTTCTTCATTCATTCTTCAACTCACTTATTCCCGTTCAG GGTTGTGGGTGGCTGGGGCCTGTCCTGGCAGCTCAGGTGCAAGGTTGGAA CCAGCCCTGGACAGGATGCCATCCCATCTCAGGGCACTCACACACAGCCA CACTCACTCACGCTGGGACCATGTGGACATGCTAGTTCGCCTCATGTGCA CATTTTTGGGATGTGGGAGGAAACTGGGGTACCCAGAGAAAACCTATGCA GACATGGGCAGAACATGAACTCCACACAGACAGTGGCTCTGGTGTCAGGA ATAGAGTGTTTTGTTCTCATCAATGTTATAACAAAACAACATTATTTGAG AACCTGCTGTATTTTTTCTGGGCCCAGTAATTTTCTTTACAGATGAAGAT TCCAATTTCCTGTCTCTGTCTCTCTCCCTGAAAGTGCTCCTGGGCATAAG CCTAGTTGTCATTATTTTGCGAATCCAGGAGGTGAAGAGACCTGGCAGAC TTCCCTTTTATTATCATGGACTTGTCCTGAATACTCCATTTTTGGTACAG AACCTCATTCTTGCCACGAGGGATGCGAGGTTTCCAAACCCACAGCCTCT CTGCTTTTATTTCTCCAGAGATTAAACAGAGATCCCTGTAGACTTGCTGC ATTGGTCAGCTGGGACTCTCATAACAAGATACCACTGTCTGGGTGGCTTA AACAACACACACGTATTTTCCTACAGTTCTAGAGGTTGTAAGTCCAAGAC TGAGGTGCCAGGAGGGTTGGTGTTTGCTGAGGCCAAACACAACTTATAAA TACCCCAACCCCTTTTAATATTCCTGGCTTGCCGGTGGCACCTTCTTTCC GTGTCCTTACCAGGGTGGAGGAGAGAAAGCTCTCGTGTTTTTTCCACTCT GCGGAAGCCCACCAGTTCCATTAAATTAGAGTCCCACCCTTATGACCTTA TTTAATTTGAACTACCTCTTTAAAGGCCCCATCTCTAAATACAGTTGTAT TCGGAGGTAGTGGAGTCAGGGCCTCAACATATGAATTTTGGGGAACATAA TTCAATCCATGACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG02258.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0037 a0001c0001t0010 a0001c0001t0037	a0001c0001t0010g0026 a0001c0001t0037g0027 a0001c0001t0010g0026 a0001c0001t0037g0027	2	174	0.0115	-1064	c.-32 others(21): Show c.-325+13261_-325+14324del	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
THEMIS_chr6_127703200_127906058	127824817	TGACAGGC others(1057): Show TGACAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCA GTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGAC TCCGTCTCAAAACAAACAAACAAACAAACAAACAAACAAAACTAACTGAA ATATTCTCAGAGAAATAAGATGTATTTTAAAAACAAGAACAGTGTAAAAT ATGTAAAATGATGTAAGAAATAACTCTTGGAAATTAAAAATATGATAACG AAAATTAAAAATTCATTAAAACAGTTGGAAATGTAGTTATGAAAATTTTC CCTGGAGGTAAACAAAAGACAAAAAGATATAAAATAGAAAAGAAAAAAGG CCCTAGAAGATCAGTATGGGAATTTCAGTATGAGATTTGAAATTAAAGAC AGAGAGAAGAGAAAATATAATTGAGTGGACATTATCAGAGAAATTGTTCC AAATATGAAGCACCTAAATATTCAGATTGAAAACTGTCATCACTAAGAAA GAACAGACCCACCCCAAGTCACATTACTGTGAAACTTCAGAATACCACGT ATAATCTCTCCAAGACGATACAGGATGGTGGAAGATAAGGGAGTAAAGTT TTCAAAATTCTGAGGGGAATTTATTCTCAACCTGGAATTCTGTAAGTAGC CAAACTATCAATCTTATATGTGTATAGAATATTTTTCAAACATTCATGCA CCGTTCTCAGGAAGCAAGGGAAGGTTGGCCTGCATAAAAATTGGAAGAAA GTCAAGATAGAGGGAGTTATTTGATTTCAGAAATAGCTAGTCAACACAGA CACAAGTCAACAGGGAATCACCAGGATTATTTTAAATGGAATTCCCAGGG CAGCACCTATGCAGTTGGTCTCAAAAATAAGCAATTCCAATTGGAACATG AGAACGAAGAGTTACAAAGGAATACATTCAGGAAAATAAATTAATAGAAA AGGTAGCCTTCCTGATAGTTTGGGTTCTTTGAAAAATTACACTGAGTGGC CTTTTTTTATAGAGTTGAAGAATGCTCTAAGACTTAGGATAAAATTGAAG AAAATCAAGCAAAGA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0217 a0001c0002t0006g0217	1	223	0.0045	-1064	c.709 others(17): Show c.709+3595_709+4658del	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	3/5			chr6	TogoVar
FAM117A_chr17_49705332_49769131	49749457	GTCCCAGC others(1056): Show GTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCCTGAATCTGGGAG GCAGAAGTTGCAGTGAGCCGAGATCGCGCCACTGTACTCTAGCCTGGTGA CAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGGAGAT TGTTGAGGGCAGAACACAGTGAGAGTGTTTCTTAGTCTAAGGAAGCACTT TCTCTAGAAAGTTCCTGGCCATCCTGAATATGCTCAGTGTGCTTCAGCAT ATATATAGCTGCAACCCTGCTGACTCCACTGCTGGGTCAATGTGAGGCGT GGACTGGGCTGGGACACACGGCAGTGGGCACCCAATCAGCTCTCAGAATC TGATGCCAACCTGGTCCAGCTAGAGTAGTAAGGACCAGCTATGGTCTCCT AAGAGGTGGCCTACTATAACGGTCAATACCTGGGCTCACATCCTGCTTCC ACCCCAATGTGCTATGTGAACTCAGACTGATCACTTAACTTCTCTGGGTG TCAGTTGTTCCATCTGTTAAATGGGGAGAGTAAGATATGTTATCAGGATG TAGAAGAAAATTTCCATTCCAGAGAACTCCTAGTGCAGTCAAATTAGTCT CACATATATCCATGTGTTAAGTATCTTCTTTGGAAATAACTTCAAATTTA TAGATGCAAGAATAAGAACAGTACATAGAACACTCATATAATCTTTACAC AGATTCGCCTATTAACAGCTGCCCCATTTGCTTTACTGTTTGCTTTCTTC ACATGCACTTTTTCTTACACATGCTCAAACACGCCCACATGTCCACACGC AAGACAGATACTCACATGCAGACACACACACACACACTTTCCTTCATTGA GTTTCCTTGTGTGGTGTTCTATTTGAAAAGAACAGGGAACTACTGGAGGA GGGGAGGATCAAGATGAAGAGAAAGCGAAGGAGGCATGCTATTTGGTGAT GGTTCCACAGCTCTGTTCCTTTTTCTTTGCCAACAATGCAAACAGCAAGC ACTCAGGTGTTCCTGCTTTAGAGATGAGCTATTACTGGCCGGGCATGGTG GCTCACGCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG00741.hp2 others(8): Show HG00140.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp1 HG02004.hp2 HG02148.hp2 HG02738.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0168 a0001c0001t0001g0169 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0306	11	336	0.0327	-1063	c.196 others(19): Show c.196+13372_196+14434del	FAM117A	ENSG00000121104.8	transcript	ENST00000240364.7	protein_coding	1/7			chr17	TogoVar
FAM149A_chr4_186099704_186180337	186172332	TCTAGGAA others(1056): Show TCTAGGAATATGTCATTTGTAACTTTGTACTCTGACGTATTTTCTAGTCT CACCCTATTAGTAATTCTGTCAAAATCCTAGACGCTAGTAGATATTAGTA TTTGAGACAATATGTCAGAGTCTGAATAAGACTCAGCTTGTTCTAGTCAT GCTGAGTTTCTCATATATTTTTTAAAAGTGCTTCCGCCATGAACCTCTTT GAGAAATGTCAGTGGCAAAATCTCCCAAGCTAATTTTCTTTTTCTATGTT CCATCTTCAAATTCAGACAGTTCACGTGAAGTACCCCACATTTATTGATC TTAGGGTTGAATATAAACGCAATTAAAAGCTATGGCAGGTGATGTCATCT TTATTGTTTACAGTCGAAGCTCCTCCATGGGAGGGGAGCCTCCCACCCTC CACGTGCCATCAGGAGCTGGCCTTTGCCCAGACGCCACCACTGCAATGAC ACCTTCCCAGAGCCCTCGTCTCCTCGCGCTCTGTCCTGCTCTGCCTGGCT TTTCTTCAGAGTGTGTTTCCCCATCTGACATTACTGTAGAAAATGGAGCA GAGAACAGGAAGGGGAATTAGCAGAGATGAGGCTCCAGGCATGTCTTCCT CTTGTCCCTCTCCCCACTGTTTCTCTTGATTGTGATTCAAGTCCTTACAC TCATTTTTACATTCTCAAATCTCAAATCAGCTAATTTCCTCTTTTCTATC AGATAATTGCATTTCATCAGTCTAATTTTTACTAATCCAAACTGTAACTT TATAAGGCTATATATATGAGCATATTTATAAACTTAGATTTATAAACTAT ATACACACATATATGTATCATATAAATGCATAATAAATTACTTTCAGACT ATTTCTGGCTGTAAGGAGAAGGGATCATTGCCTACTAGTAGATGTCTGAA ATTTTAAAAGATGTGTTGAGACTAACATTAATGTTGTCCTTTATCACAGG GTGACAAAAATGACCCAGAGCCTTGCCTCTGTTTGAAAATTTCTCCTTGA CTTTGCTGACTCCATTTCTTTTTTCTTTTCTTTTTTTTTGAAACGGAGTC TGGCTCTGTGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01256.hp1 HG01258.hp2 others(21): Show HG01167.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01993.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18906.hp1 NA18950.hp2 NA19060.hp2 NA20300.hp1 NA21309.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0011	a0002c0007 a0006c0009 a0006c0029 others(5): Show a0002c0007 a0006c0009 a0006c0029 a0006c0045 a0006c0059 a0007c0011 a0011c0025 a0011c0058	a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 others(11): Show a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 a0006c0009t0024 a0006c0009t0041 a0006c0009t0044 a0006c0009t0086 a0006c0029t0013 a0006c0029t0024 a0006c0045t0048 a0006c0059t0013 a0007c0011t0008 a0011c0025t0008 a0011c0058t0071	a0002c0007t0013g0268 a0006c0009t0008g0002 a0006c0009t0013g0029 others(20): Show a0002c0007t0013g0268 a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 a0006c0009t0013g0227 a0006c0009t0024g0028 a0006c0009t0041g0303 a0006c0009t0044g0225 a0006c0009t0086g0357 a0006c0029t0013g0257 a0006c0029t0024g0256 a0006c0045t0048g0008 a0006c0059t0013g0316 a0007c0011t0008g0160 a0007c0011t0008g0162 a0007c0011t0008g0164 a0007c0011t0008g0171 a0007c0011t0008g0200 a0007c0011t0008g0201 a0007c0011t0008g0204 a0007c0011t0008g0300 a0011c0025t0008g0026 a0011c0058t0071g0288	24	390	0.0615	-1063	c.34 others(10): Show c.347_*1409del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14	347	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186175962	GTGAATAA others(1056): Show GTGAATAATGGGAGCTCAGTGAGCTAACAGGAGCTGAGGGACTGAGGTCC CTTTTGGACTATGGGAAATATGAAATAAGAAGCCACTGGAGCAGTTGAGT TTTGGGGATAGAATGATATAATCGACAAGAGATGATCCTGTTTCAGTCAG ATGATAGTGGTAAGGCTGATGAGAATCCCAGGACTTTGCATGTGTTTTGA AATTTGAGCCAAAAGATGTGCTGTTGGATGAGAGGTGGAGTGTGTCTACC AAAAGAATCGAGAATGCCTCCAGGCTTTTGGCTTCACACTTGGAAGGATG GTGTTGACACTCACTGAAATTGGAAAGACTGCAAGGGGAACACGTTTGGC AGCATGAGGGGCAAGTTATGTGTGAGATGCCAATTAGATGCCTAAGTGGA GATATTGAGATATTTGGATATCCACACTTGGGTGTGGAGGTGAGGTATAG ACTGGATGTATAAATTTGGGGATTGTCAGCACGTAGATGGTATTTAAGAA CTGAAATGGATGAGGCAACCAAGAAAATGAGTGTAGAGAAATGGAGGAAA AAGAAGTACTGAGCCTTGTGCCTTTTAACATCTAAAGGCCTGGGATGTGA AGGAAAACCAGCAAAGCAGACTGAGAAAGAATGGCTGGTGAAGGGAAATA AGAGTCAGGAGAATGTGGCGTCCTCAAAGTATGTGTGTGTTTGTGCGGGG GAAGTGTTTCAAGGAAGTGATAGGGACTCAAGTATGTTGAATGCTGTTGA TGAGTCAATTACGATGAGGTCTGAGAATCAGACTAAAGGTCTAGCCACAT GGAAGTTACTGGTGGCCTTGACAAGATCTGCTAGGTGAATGGACAAGGCG AAAGTAGGCTTGCAGTGGGTTTGGGAGAAAAGAAGAAGAGAGAAATCCAA GACAGTAGTCATGGGCAAGTCTTCCAGGGAATTTTTCTGTACAGGGGAGT AGAGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCACGTG TGTTTCCTAGTAAGGTTCATCTTGATGAATGTCATTATTCAGTATAAAAA TGTTGATCCAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG03225.hp1 HG01433.hp2 HG03225.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0008 a0007c0011t0008	a0007c0011t0008g0160 a0007c0011t0008g0162 a0007c0011t0008g0160 a0007c0011t0008g0162	2	390	0.0051	-1063	c.39 others(11): Show c.3976_*5038del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding		626		chr4	TogoVar
KCNQ1_chr11_2440008_2854105	2536690	CAGCCTGC others(1056): Show CAGCCTGCCAGAGGGACCGCTGGGCCTATCTCCAGCCACGTGGGTCGCGA GAGTCGACCTGGGCTGCGTGATGGGGGACCCCAGGCTGGGCGGCTTAAAC CGTGGAGGTCGCCCTCTCACAGCTCTGGACGATGGAGGGCCGAGACCCAG GTGTGGGCAGGGCTGGTTCTTCTGAGGCCCCTCCCGGCTTCTGAGGGTGG CTAGCAACTGTCTTCTAGATGTAGTACCCCAATCCCCCCCAGTCCCTCCC TTTACCTCACAGGGCATCCTCCCTGCGTGTGAGTCTGGAGCCAAATTTCT CCTCTATGTAAGGACACCAGTCTTACTGGATTGGAGGCTACCCTACTCCA CTGTGACCCCCCTCCTAACTGATCATATCTGCAGGGACCCCATTTCCAAA CAAGGTCTTACTCTGAGTACTGGGGATTAGGGCTTCATCATATGAATTTG AGGGCAACCCAGGGGTCTCCAAACCATGGCCCACAGGGTGGCTCCCTGTG TGTGTAAATAAAGCTTTATTAGCACACAGCACCACATACTTGAGGGCCTA ATGCCTCTGGCTGCTTTGTGCCATGGCAGATTTGAGTCCTGCCATGGAGA CCATGCAGCCCACAGGGCCTAAGATTTCTACTACCTGACCTTCCAGGAAA GGTTTGCCACGCTATTTATTTAGCAGGATAATTTTGGAAAGAGCAGTTGC TAGGGGCATTTAAACTTGCAGTCGAATTAGTAACAATTTTATTTTTTGGG AAAATAGAAGTGGGAGAGCGTGTGCCCCGGGCCAGCCCACCGTGCCCCAC GTTTCTACAGTGCCCAGGTTGGCGCAGGGCCTTTTGGTTCCACAGTCTGT GTCTTTCTTCCTGGGTGTCTGAATTTTGATTTAATCTCAGGCTTGTCAGA ACGAGCAGCTCCCAGGCACCCTCTGCCAGGTCAGCAGTGGCTTTCATCTT CTGCCATTTGCTCTGCACGTTTCTCTCTATATGCAAAAACCTATATGGGT TTTGTGGGGTTTTTTGTTGTTGGTTTTTTATTTTTATTTTTTTGAGAGAG AGAGGGTCTTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	208	0.0048	-1063	c.477 others(17): Show c.477+8673_477+9735del	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15			chr11	TogoVar
LYPD8_chr1_248734415_248760759	248746564	GCAGCACC others(1056): Show GCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCA TCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGC ATCACCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCA CCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCA GGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCTGCACGGCC AGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATC CCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACG GCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGC ATCCCCCGCACGGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0143 a0002c0002t0001g0144	2	374	0.0054	-1063	c.337 others(16): Show c.337+662_338-1286del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
POPDC3_chr6_105152900_105185014	105171732	TTAGTGAA others(1056): Show TTAGTGAAATTCCAATGTTAACACTATTTAAGTCCAGTTTTCAAAACTGT GATCTATTTTAAATATTACTAACTAAAAATACACCTTATCTACAAATAAA CTACCTAACACTTATTTCGTTTATTTTATTATATTAGAGATGGAGTCTCC TTGTGTTTCCCAGCCTGGTCTTAAACTCCCAGACTCAAGTAATCCTCCCA TCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAG CCATTAAAACTCATTTAAAGTCAGTTGTTGCAAAGCCAAAATTGACAAAT GGGATCTAATTAAACTAAAGAACTTCTGCACAGCAAAACAAACTACCATC AGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTTGCAATCTACTC ATCTGACAAAGGGCTAATACCCAGAATCTACAATGAACTCAAAACAAATT TACAAGAAAAAAACAAACAACCTCATCAACAAGTGGGCGAAGGAGATGAA CAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAA AATGCTCATCATCACTGGCCATCACATAAATGCAAATCAAAACCACAATG AGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAA CAACAGGTCCAGTGGAGAGGATGTGAAGAAATAGGAACACTTTTACACTG TTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGAT TCCTCAGGGATCTAGAACTAGAAATACCATTTGACCTAGCCATCCCATTA CTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATG CACACATATGTTTATTGCGTCACTATTCACAATAGCAAAGACTTGGAACC AACCCAAATGTCCAACAATGAGAGACTGGATTAAGAAAATGTAGCACATA TACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTT TGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATTGC AAGGACAAAAAACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01168.hp1 others(10): Show HG00099.hp2 HG01069.hp2 HG01168.hp1 HG01169.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02738.hp2 HG03225.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0005 a0002c0003t0016 a0001c0001t0001 a0002c0003t0005 a0002c0003t0016	a0001c0001t0001g0054 a0002c0003t0005g0012 a0002c0003t0005g0023 others(7): Show a0001c0001t0001g0054 a0002c0003t0005g0012 a0002c0003t0005g0023 a0002c0003t0005g0050 a0002c0003t0005g0051 a0002c0003t0005g0052 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0058 a0002c0003t0016g0057	13	258	0.0504	-1063	c.-25 others(19): Show c.-252+7038_-252+8100del	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding	1/3			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1071097	GGCATCAC others(1056): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCC CCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	118	0.0085	-1063	c.224 others(19): Show c.2241+1473_2241+2535del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TFRC_chr3_196044284_196087090	196047041	GAGACCAG others(1056): Show GAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAA AAATTAGCCGAGCATGGTGGCATGCACCTGTAATCTCAGCTACTGGGGAG GCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTTAGC TGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAATGAGACTCCAT TTCAGAAAAAAAAAAAAAAGAAAAGAAAAGAAAATTATACAAAGCTGTCC ATTTGGGGTGGATTAAGCATGAGGCAGCTTAAAGGGCAAATGCAGCAAAC TGCAAAGGCTTTATTTAACTCAGCACCTAAACCTGTTGACAGCCACAAGG AAGACATTGGTATCTGATATTGAATTCTAGGCAAAGCTGTCTTGCAGATA ACCAGGTGTTTTACAAATATTTGTTTAGGACAGCTTCCTAACCCATGACC TTTCACATAGGCAGTTTCTCCCGTAGAATACAGCAGTTTAATAATCATCT TGCTTCTCAAGGGTATGAATGTGGCTAATTTGGACACGGGAAAGCTGGGG CATAGGTGAGGCAATTAGGCTTCCAATTCTAGGGGCCACAATTTTCGTGG CCATACTTAAGAATCCTGGCTGGCACTCATAGCAATGAGATTCAATTGTG TGATGGATTTTTTGGTAACCACACGGTAGAAGGCCAAAATAAGAAAACTC TCAACAATTACGCCTTTTGCTATAGAGCTGGTGTCCACTAACCATGTGGC TACTGAGCACCTGAAATGTGGCTAGCCAAAACTGAGATGTGCATTGCTTG AGGTACAAGGGAGTTTGAAGACACGGTATGGAGCACACCTGTAATCCCAG CCTCTCAGGAGGCTGAGGCACAAGAATTGCTTGAACTTGGGAGGTGGAGG TTGCAGTGAGCTGCGATGGCACCACTACACTCCAGCCTAGGCGATGGGGC GAGACTGTCTCGGGAAAAAAAAAAAAAAGGAGGCAGAGCGTGGTGGTGGC TCACACCTGTAATCACACACTTTGGGAGGCTGAGGTGGGCAGATCACTTG AAGTCAGGAGTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(84): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02523.hp2 HG02559.hp2 HG03041.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0013 a0002c0011 others(1): Show a0001c0001 a0001c0013 a0002c0011 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0001c0013t0001 a0002c0011t0001 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0006g0279 a0001c0001t0013g0144 a0001c0001t0013g0344 a0001c0001t0018g0164 a0001c0013t0001g0131 a0002c0011t0001g0233 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0005t0001g0116	87	384	0.2266	-1063	c.38 others(11): Show c.3838_*4900del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		2242		chr3	TogoVar
TFRC_chr3_196044284_196087090	196047045	CCAGCCTG others(1056): Show CCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAT TAGCCGAGCATGGTGGCATGCACCTGTAATCTCAGCTACTGGGGAGGCTG AGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTTAGCTGAG ATCACGCCATTGCACTCCAGCCTGGGCAACAAGAATGAGACTCCATTTCA GAAAAAAAAAAAAAAGAAAAGAAAAGAAAATTATACAAAGCTGTCCATTT GGGGTGGATTAAGCATGAGGCAGCTTAAAGGGCAAATGCAGCAAACTGCA AAGGCTTTATTTAACTCAGCACCTAAACCTGTTGACAGCCACAAGGAAGA CATTGGTATCTGATATTGAATTCTAGGCAAAGCTGTCTTGCAGATAACCA GGTGTTTTACAAATATTTGTTTAGGACAGCTTCCTAACCCATGACCTTTC ACATAGGCAGTTTCTCCCGTAGAATACAGCAGTTTAATAATCATCTTGCT TCTCAAGGGTATGAATGTGGCTAATTTGGACACGGGAAAGCTGGGGCATA GGTGAGGCAATTAGGCTTCCAATTCTAGGGGCCACAATTTTCGTGGCCAT ACTTAAGAATCCTGGCTGGCACTCATAGCAATGAGATTCAATTGTGTGAT GGATTTTTTGGTAACCACACGGTAGAAGGCCAAAATAAGAAAACTCTCAA CAATTACGCCTTTTGCTATAGAGCTGGTGTCCACTAACCATGTGGCTACT GAGCACCTGAAATGTGGCTAGCCAAAACTGAGATGTGCATTGCTTGAGGT ACAAGGGAGTTTGAAGACACGGTATGGAGCACACCTGTAATCCCAGCCTC TCAGGAGGCTGAGGCACAAGAATTGCTTGAACTTGGGAGGTGGAGGTTGC AGTGAGCTGCGATGGCACCACTACACTCCAGCCTAGGCGATGGGGCGAGA CTGTCTCGGGAAAAAAAAAAAAAAGGAGGCAGAGCGTGGTGGTGGCTCAC ACCTGTAATCACACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAAGT CAGGAGTTCAAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0027	2	384	0.0052	-1063	c.38 others(11): Show c.3834_*4896del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		2238		chr3	TogoVar
TFRC_chr3_196044284_196087090	196047063	CGAAACCC others(1056): Show CGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCA TGCACCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTG AACCTGGAAGGCAGAGGTTGCAGTTAGCTGAGATCACGCCATTGCACTCC AGCCTGGGCAACAAGAATGAGACTCCATTTCAGAAAAAAAAAAAAAAGAA AAGAAAAGAAAATTATACAAAGCTGTCCATTTGGGGTGGATTAAGCATGA GGCAGCTTAAAGGGCAAATGCAGCAAACTGCAAAGGCTTTATTTAACTCA GCACCTAAACCTGTTGACAGCCACAAGGAAGACATTGGTATCTGATATTG AATTCTAGGCAAAGCTGTCTTGCAGATAACCAGGTGTTTTACAAATATTT GTTTAGGACAGCTTCCTAACCCATGACCTTTCACATAGGCAGTTTCTCCC GTAGAATACAGCAGTTTAATAATCATCTTGCTTCTCAAGGGTATGAATGT GGCTAATTTGGACACGGGAAAGCTGGGGCATAGGTGAGGCAATTAGGCTT CCAATTCTAGGGGCCACAATTTTCGTGGCCATACTTAAGAATCCTGGCTG GCACTCATAGCAATGAGATTCAATTGTGTGATGGATTTTTTGGTAACCAC ACGGTAGAAGGCCAAAATAAGAAAACTCTCAACAATTACGCCTTTTGCTA TAGAGCTGGTGTCCACTAACCATGTGGCTACTGAGCACCTGAAATGTGGC TAGCCAAAACTGAGATGTGCATTGCTTGAGGTACAAGGGAGTTTGAAGAC ACGGTATGGAGCACACCTGTAATCCCAGCCTCTCAGGAGGCTGAGGCACA AGAATTGCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCTGCGATGGCAC CACTACACTCCAGCCTAGGCGATGGGGCGAGACTGTCTCGGGAAAAAAAA AAAAAAGGAGGCAGAGCGTGGTGGTGGCTCACACCTGTAATCACACACTT TGGGAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGATCAGC CTGGCCAACATGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0347 a0001c0001t0011g0347	1	384	0.0026	-1063	c.38 others(11): Show c.3816_*4878del	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding		2220		chr3	TogoVar
ABL1_chr9_130830254_130892675	130876746	TTTTTTTT others(1055): Show TTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTG GCATGATCTCAGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGTCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGAGACTATAGGCGCCCGCCGCCACAC TCGGCCAATTTTTTTTCTATTTTTGTAGAGACGGGGTTTCACTGCGTTAG CCAGGATGGTCTCGATCTCCGGACTTCGTGATCCGCCCACCTTGGCCTCC CAAAGTGCACAAGTTAGTTTCTTAATACCCTTCAGTGGTGGCCAATTAGG TTTTTGCTGTCATTGGTGGTATTATGAACTCTCAGATTTATATATATCTG ATGTGTTTCAGTCCACTGCGGTTATTTTCCCTGTTGATATTCAGATTGTC TCGTCTTTGGCCAGTGGGAACTTCACATTAGCTCCTAGTCATTTTGACAT TAACTTTGTAGTTTTCCATGACGTCCGCGCCCTCAAATGACAAGCTATTG CAGGTTCATTCTGTGCCCCAGGCCTGAATCACCCATTTCTCTAAGGAATC TTATCCTTTAATGGGAAATGGAATTTTAAGGCAATAATCTCAGATTTCAA AACTTTCAAAGATTTCATAAGATTTTTATGAAATGTTTAGAGTTAGAAGG GGCTTTGGAGATAGTCTTGTGCACCCAGAAAGCAGTGGTGGCCGGTTAGG CACAGAGCTGGTTGGTCACAGAGCTAAGAGTTAACATGGCCAGCTGACTT CCGGCGCCAGGTTCCTTCTACCACATATCCCAGCAAGATGGTCACATTAC CTAAAAGACCCCACAGGGTCTGAAACTCATCATCTGCCCTCCTCTAGCAT GTTTGTGGGGTAAGTTTACTGAGTCTTGTTCTGTCCTGGTCTCCTTTTTT TTTTTTTATTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGCGTGC AGTGGAGCAATATCAGCTCACTACAACCTCCGTCTCCTGGGTTCAAGCAA TTCTCCTGCCTCAGCCTCCAAAGTAGCCAGGACTACTGGCGTACACCACC ACACCTGGCTAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG02055.hp2 others(3): Show HG01081.hp1 HG01175.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0130 a0001c0003t0003g0185 a0001c0003t0003g0222 others(3): Show a0001c0003t0003g0130 a0001c0003t0003g0185 a0001c0003t0003g0222 a0001c0003t0004g0220 a0001c0003t0004g0256 a0001c0003t0004g0257	6	278	0.0216	-1062	c.127 others(18): Show c.1271-1658_1271-597del	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ARHGAP35_chr19_46855997_47010077	46873983	GGTGATCT others(1055): Show GGTGATCTGCCCGCTTCAGCCTCCCAAATGCTGGGATTACAGGCGTGAGC CACCTCGCCTGGCTAAGCTATTAATTAAATTTTTTTTCCCAAAGTCCTGT TTTGAAGTCCTGTCTATAATTAATTTTATTTAAATAATTTAGCAAAAGTT TGTTAAGCAGAAGAGGGAACAAACTAGTTCTTTGTAGTTCCAGAGGATAG AGGTAGAGGTCTAGGTATCTACAAGGTTTAGAGTGCACAAAACATGCCTC TTCCTCTCTGGGAGAATTTTTATGCCGTTTATAAAACAAAAGCAATTCTT CCCTTACAGGTAACACAAGGAACACACTGTTTCTTTACCAGAATGTAAAA AATTTAGAAGGCCAGTGGCCTGATTGTTTTTACTTGATCTTATCTTAAAG AATTATGTGTGACTAAGCATTTCAATGCAAGAATGCATTGACTAGGAAGA CAGATTTCGTCTTATTATGAGAAAGAACTTTTAAAGAAAACGATCCAAGC TCATGTTTTATGTTTTGTCTTTTTTTTTTTTTTTTTTTTGAGTCGGAGTC TTGCTCTGTTGCCCAGGCTGGAGTACAATGGCACAATCTTCGGCTCACAG CAACCTCCGCCTCCTGCGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCGCCTGCTACCATGCCTGGCTAATTTTTGTATTT TTGATAGAGACGGAGTTTCACCTTATTGGTCAGGCTGGTCTCGAACTCCT GACCTCGTGGTCCAGCCGCGTTGGCCTCCCAAAGCGCTAGGATACAGGTG TGAGCCACTGCGCCCGGCAGTTTTGTCCTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAATGGCTCAGTCTCAG CTCACTGCAACCTCCGCTTCCCGGGTTCAAGCGGTTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCGGCTAATGTT TGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCG AACTCCTGACCTT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	298	0.0034	-1062	c.-18 others(21): Show c.-189+12788_-189+13849del	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRSX_chrX_2214506_2505976	2277571	AGAGGGAG others(1055): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAAT GGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGG AGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAG AGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGA GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0007 a0004c0014t0005g0007	1	50	0.0200	-1062	c.389 others(19): Show c.389-11686_389-10625del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97301108	GCCACTGC others(1055): Show GCCACTGCACTCCAGCGTAGGCCACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAGAAAATTTAAGTAATTGGATGAGTTGTTTTCGTATA AATTGGATGTATACGTTTGATGTCCTCATTGTGTTCAGCAAGCTAAGATG TATATGTACAGTTAAACATGAGTCATGCCCTCTATGATGAGTTTAAACAT TTAAACCAAATATTTGTTACATATGATACATTAAGTACAAATGTTTTTTA TCTATGGTACCTTAATTTATATAACATATCTTAGGTTATAAACTGTTTGT TTATAACAACAAATAAAGCGAAGTATTCAAAATGGCTTGTAGCAAGGTGC TGAGACATGTGAAGGAGTGCCAGATTGTTCTTGATAATTTACTTCCCACC TCTGACTCACTTTTACATGGTCAGCTTTCAGAGAATAAGCACAAAGATGT TAGCAAAATTAAGGGCACTTTAAAGTTTTTGTTGAGATGTTTTTAAGTCT TAAACAAAATTTCAAATCCAGAGATTTGTGGGACCAAAATGATGAATTAA AAGAGAAGGATTCAGTGTATTTTCTGAAAAATTATTCATTACCTATAGCT GATACGACCAGTGCCAGCCATGAATTACCTAGTCCCCATGCATTGACAGC TGATTTACATTCTTGCGCCAGCTCCTTATCTCATAGTAGATCAGGCGTTT GAGTAGCATAGCATTAGCTTATCTGTTTTTTTAAGATCAATAGAACTCAA CAAAGGACGATAGAACTGTATACCCCAGTCAATAAGTTAGACACTTATTA AACCTTTTATAAAAGTATTGGATATGGCCGAGCACAGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAG ATCGAGAACATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATA CAAAAATTAGCTAGGCATGGTGGTGCGTGCCTGTAGTCCCAGCTATTCAG GAGGTTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTG AGCTGAGATCGCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	-1062	c.284 others(21): Show c.2845-46992_2845-45931del	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXK1_chr7_4677295_4776442	4691482	CTGCCACC others(1055): Show CTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGGTTT TACTGTGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAAATGATCCACC CACCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCACGCCC AGCCCAGGCCATTATACATGATTTGATTAAGAAGAATCTCGTCTGCCCTC AGTACTGCATTTAACCTTGCTGGGAAAGGGGTGAACTGTCTTCCATCTGT TTCCTCAGAGGACGCTGAGCTCTGATCATGTTGCCTCTCTGCCCAGAAAC CTCAGTGGCTCCCGTGTACCCAGGGCAAGAGGCCCTGCCCCTCAGCAGAG ACCCTGTTATTATGAAGCTGTCCTCTAACCTGTTCCCCTAAGTGTCAAAG GGCATGGTTCTCTTTGGGCAGAATGGCTGCTGGACATTCTCTGCTTATAC CAGCAATTCCCAGATTTGTTTTAGTCTCAGGGCCCTTTTATACTCTTATA CTCCTACACATTACTGGGGACCCCAAAGAGCTTTGGTTTATATGAGCTAT ATCTGTTGACACTGACCGTATTAGAAATTAAAATATGCATATTTATTTAT CTACTCAAAAATGGTAATAATAACTCTATTTCAAAAATATTTTTATGAAA AAAAAACTATATACCCCCACCCCAAGAAAAGAATAAGAGTTTTTTTGGTA GAACTCTGTAATGTCTGGCTTAATAGAAGACAGCTGGAATCCATGGCTGC CTCCGCTTTTAGTCGGCTGTGATGCGTGTTCAGGCTGAAGTACATGGAGA AAAGCCAGCCTCCTGCAGATACGTAGTTGGAAAAGGGAGTATTTTTGTAG CCTTTTCAGATATTGTGGATGTTCCTTGAGACCTCACTAAAACCTGACAA GGGGTAGTTTCTTTTTTTGTTGTTTTGTTTTGAGACGGAGTTTTGCTCTG TTGCCCAGGCTGGAGGGGCAGTGGCACGATCTCAGCTCACTGCAACATCC GCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATAAACAGGCATG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0136 a0001c0004t0008g0136	1	294	0.0034	-1062	c.560 others(17): Show c.560+8638_560+9699del	FOXK1	ENSG00000164916.11	transcript	ENST00000328914.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LARGE1_chr22_33267509_33925476	33340008	TTAATTTA others(1055): Show TTAATTTATTATTAATATCTGGTGGCATTCATTGTTAGTATTAAAAATGA TTCATTATTACTATAGAATAACCATGATCAGCAAGACATAATTTGTATTA GTTTATTTAATACGCACAACAGGCCTATGGGGCAGCATGATTATTAACTC CATTTTACAGATGGGGAAGTAGAGGCACAGAAAGACTCTGTAATTTGCCT GTGGTCACAGAAAAGTAGGCTTGGAACCTCTGAAGCCTGGTTCCAGAGTC CACCTGCTTAACTACTCACTGGGCTTGCACTGTGTCTGAGATCAGCACAC AGGGACCCAGGAGACTGATGGCTGGGCCAATCAGATGGCCTCTCACAGTT GAGCCACATAAGCTGAACCCTGAATGATGGGTGGAGGCAGAGGGTCCAAG GGGACAGGTTGAGTCCAGGTGAGGGAAATCACACACCATCAAAAACAGCT AAGCCAGGGAAAGACCCCATGAGGACTGCACTGTGAGGTGGCCCTGGTCA TATATGATCATATTCTCAATGCTCCTTGGCAGACACCAAGGCAAGGCTCA GCCCAGTGCAACGGCATGAATACCTGAGCACAGTCCCCAGAGAACCCTCC ATGGGACACCTGTGACGGGAAAGGGAAGCCTGTACTGAGTGGCCACTGCT CATGCCCTTGACTGGGAGCCTTCTCCTGGGGGGCTCACCCATGGGTTGAA CACTTCACCAGCAGTTTTACATTCATTGGCTTCTTTTAGTCCTCACAATG ACCCTAGCAAGGCATGCAATCGTAAAGGGGAAGAAACAGTGAAGAAGTGA CTTGCCTATGGCCACCTTGCTGGTAAACATGGGAGCTAGGCTTCAAACAC AAGCATGTCTGATTCCCAAGCCCACATTCTTTCCTATACACTGTGGAGGA CAGAAGCCAAGCTTTTAAAACATTCTGTTTCATGCTTTGTCTGATTATAG AGGAAATGAAATAGCTTTTCCCTCAATAGCCCCCTACTACCTTTACTCTC TCCTCCTGTGGGGGTTGAACAGTATATCAAATGTAATGGACTATCTCCCA TTCCCCCACAAAA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02970.hp1 HG03540.hp2 others(1): Show HG01257.hp1 HG02970.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0022 a0001c0003t0009 a0001c0001t0005 a0001c0002t0022 a0001c0003t0009	a0001c0001t0005g0023 a0001c0001t0005g0027 a0001c0002t0022g0103 others(1): Show a0001c0001t0005g0023 a0001c0001t0005g0027 a0001c0002t0022g0103 a0001c0003t0009g0001	4	110	0.0364	-1062	c.113 others(19): Show c.1132-3269_1132-2208del	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	9/14			chr22	TogoVar
TMEM87B_chr2_112050269_112124314	112114319	GGTAGCAT others(1055): Show GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGACGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGACGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTA CAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCA TAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGA AAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCAT TACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATT CATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACA GAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGC ATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGA TTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTA CAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTA GCATTACAGGAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAA GATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTC TACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGG TAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGA AAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATA ACTACAGAAAGAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	316	0.0032	-1062	c.160 others(18): Show c.1608+1466_1609-628del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CUX2_chr12_111029165_111355554	111073900	GAGCGATG others(1054): Show GAGCGATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGGGATACCT CATCTCAGAGAAAAACAATTGAATTTTAGATAAACAGTGAATGATTTTCA GTATAAGTATATCCCATGCAATGTTTGGGATATACTTATACTAAAAAAAA AAATCATACATTGTTTATCTGAAATGAAATGTGTCATTGTTTATCTGAAA TGAAATGTGTCTGGGTGTCCTGTATTTTATCCAGCAATCGGCTTAATTCC ATTTCTTCTGTCTTCTGAACACTGCAGTGAATAACATCCTGGAAGCTGAA TCTTTGCATACAAACCATGTTTCCCAGTCGAGGCTTCTCATTTGAATCAC CTGGGGGCTTGTTAAAGCCCAGCATCTCGCCCCACCCCAGGTCTCTCGAA ACAGATTGCAAATTTGGTTGAGACTGAATCTGTAACTAAGTCCCCAGGTG ATTCAGAGCCAAAGACGTAGGGTAAACACCTGAGTAGAGTAAATTGTGAG GGCCACCCGCCTATTTCGCTAAAGTGGAAGATGGGGCAGGGAAACATTCT AGCTGTTCCCTGCCTGATCAGCTGGGTCAGCTCTCTGCTGTGAGTGAAGA TAGAGGCTTGTCTTTGCCCAACCTTGCCTGGGACCCCTCTGCCTGTGGCC TTCAGCTTGGACAGGGGGCTGAGGGGGTGCCCCTACCTTGAGCTGCCCCT CAGCTCAGCCCAGAGCCTGCCCTGACTTCACAGGAAGCAGCAGCTGAACT TTGGCAGCAGGAGGGAAGTGGGGGGTTGTGGGCACCAGAACCAACTGCAT TGATTTCTGGCTGCAGTTCTTGGAAGGCCTGTCATGAGGAAAACAGGCAG CGGGTAAACAGCAGACGGCGGCAGGGCCCAGCAGCTGGGAGGACCTGGCT GGACCTAGGAACCTGTCTTAGCTCGTGGTACCGGCCAGGTCTGGCCACCA CTGTTGGGGACACCGTGCCCCTCGGGCCCAGGCCTGAGCCTCTCGAGACC CCACCATCTAGCCAGGTAAGGTTTGCCCAGACCTGGTCCCCCAGAACTGT CTCCCTTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19030.hp2 HG02897.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0022 a0001c0009 a0001c0022	a0001c0009t0001 a0001c0022t0005 a0001c0009t0001 a0001c0022t0005	a0001c0009t0001g0035 a0001c0022t0005g0034 a0001c0009t0001g0035 a0001c0022t0005g0034	2	100	0.0200	-1061	c.63+ others(17): Show c.63+39661_63+40721del	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	1/21			chr12	TogoVar
DACT2_chr6_168301904_168324777	168316443	GTGCAAAC others(1054): Show GTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATCACGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCAT CTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACA CAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGT CACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGG CAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTG AGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACA GCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02145.hp1 HG02559.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0004 a0012c0017t0004	a0012c0017t0004g0148 a0012c0017t0004g0149 a0012c0017t0004g0148 a0012c0017t0004g0149	2	476	0.0042	-1061	c.246 others(17): Show c.246+1884_246+2944del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
BRF1_chr14_105204286_105306001	105276190	CGGCCCTC others(1053): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGA GAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAG TGAGAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCA CAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGG CCACAGTGAGAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGG AGGCCACAGTGAGAAGGAGCTGAGAGGCGGCCCTCACTAGAGAGCTGGGG AGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTG GGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGCGGCCCTCACTAGAGAG CTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGA GAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACT AGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCTC ACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCC CTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCG GCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAG GCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGA GAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGC TGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG00639.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0070 a0001c0001t0013g0072 a0001c0001t0008g0070 a0001c0001t0013g0072	2	72	0.0278	-1060	c.266 others(17): Show c.266-4356_266-3297del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
P2RX5_chr17_3668227_3701155	3686214	GCCCCCAG others(1053): Show GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCC AGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCC CAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAG GAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCT GGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 NA18980.hp1 HG02559.hp1 HG02647.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0242 a0001c0001t0001g0286 a0001c0001t0001g0063 a0001c0001t0001g0242 a0001c0001t0001g0286	3	362	0.0083	-1060	c.981 others(16): Show c.981+738_981+1797del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PLEKHB2_chr2_131100336_131154845	131136139	TGCCTGCC others(1053): Show TGCCTGCCTGTCTTCCTGCCTCCTCCCTCCCTCCCTCCCTCCCTCTCTCC TTTCCCCCGCCCGTCCCCTCTCCTCCTCTCCTCTCCTCTCTCCCCTGACC CCCTGAGAGATGAGGTCTCACTCTCTTGCCCAGGATGGAGTGCAGTGGTA CTATCATTAGCTCACTTCAGCCTGGAATTCCTGGGCTGAGGCAATCCTCT TGCCTCAGCCTCCTGAGCCACCATGGCTGCAAAAAAATTTTTTTTTTTTG TTGTAGAGACAGGGTCTTGTTCTGTTGCCCAGGGTGGTCTTGAACTCCTG GCCTCAAACAATCCTCCTGCCTGGGCCTCCCAAAGTGATTTTGTTAAATA CTTTTTCTACAGTAATTAATATGATCATGAGATTTTTCTTTTCTTTTTAG CCTGCTAATATGGTGGATTATAGTGTTTGGTTTTCACATACTGAACCAGC CTTGCATTCCCTGGAATAAAGCCTACTTGGTCATGGTGTATGATTCTTTT TATTTATTGCTGAATTCAGTTTGCTAATATTTGTTAAGGATTTTTGCGTC TATATTTATGAGGGATATTGGTCTATAGTTTTCTTTTTTTGTACTTTGTT TTGTTTTATCAAGGCAATACTGACCTTATAGAATAAATTGGAAAGTGTTT TCTGCTCTTTTCTTTTCTGGGAGAAATTGTGTAGAATTGGCATTAATTCT TCTTTAAAATTTGGTAGAAATCTCCAGTGAAACTGTCAGGGCTTGGAGAT TTCTTTTTTGGGAGATTTTAAGTGACAACATCTTTTTTCTTTTTTTCTTT CTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTGTCGCC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCC CGTGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCGGGGACTACA GGCGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATC TGCCCGCCTCG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02895.hp2 HG02965.hp2 others(4): Show HG02602.hp1 HG02895.hp2 HG02965.hp2 HG03195.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0248 a0001c0001t0024g0057	7	264	0.0265	-1060	c.423 others(17): Show c.423+3153_424-2964del	PLEKHB2	ENSG00000115762.17	transcript	ENST00000693505.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDK1_chr7_3296252_4274000	3976319	GGATCCTC others(1053): Show GGATCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGC CACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0012 a0004c0058t0012	a0004c0058t0012g0063 a0004c0058t0012g0063	1	116	0.0086	-1060	c.199 others(19): Show c.1994+1776_1994+2835del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
DLGAP2_chr8_732628_1713476	1015393	CGCCTCCA others(1052): Show CGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG TATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAG GACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-1059	c.73+ others(19): Show c.73+107444_73+108502del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18629555	AGCCTCCC others(1052): Show AGCCTCCCAAAGTGCTGAGATTACAGGCAAGAGTCACCATGCCTGGCCAA AGCCAGATTTTTAAAGTGGAACATAATCTTTCTTTTTTGTTTCTGTATTA GTTTATTCTCATACTGCTATAAAGAAATACCTGAGACAGGGTAATTTATT AAAAAAAAGAGGTTTAATTGGCTCACAGTTCTGCAGGCTGTGCAGGAAGG ATGGCTGCAGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGTGAAGGG GAAGCAGGCACATCTTCACATGGCCAGAGCAGAAATAAGAGAAAGCAGGG GGATGTACTACACATTTTTAAACAACCAGATCTCATGAGAACTCACTGTC ACGAGAACAGCAAGGGGGAAGTCTACCCCCATGATCCAGTCACCTCCCAC CAGGCCCCTCCTCCAATGCTGGGGATTCCAATTCAACATGAGATTTGGGT GGGGACACAAATCCAAACCATAGCAGTTTCTGACTCTTTTTGTATTGAGG AACATGTCTGATGTAGTAGGCTAGACTTCAGTGGTAGTAACTGAGGGTCT TGGAATGACTAATGACATTAAAAAAATCACAAATGAAAAGTCCACATGAA AATGTAAGCTTTTTATTGTGAAATAATTTGAGACTTACAGAAAAGTTGAA AAAACAGAGTTTCCATATACTTTTTAACCCAACTGCCTCTAGTTTCAATG TCTACATAACCATAGTACAATGACCAAGACTTTGAAATTAATGTTGATAT AGTACTATTATATTAACTATATTACAAACCTTATTTGAAGTTCACTAGGT TTTTTGTTTGTTTGTTTGTTTTTCAGACGGATTCTCGCTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCCGTTCATTGCAAGCTCCACCTCCCGG GTTCATGCCATTCTTCGGCCTAAGCCTCCCAAGTAGCTGGGACTATAGGC ACGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACGG GGTTTTACCATGTTAGCCAGGATGGTCTCGATCTCCTGCCCTGGTGATCC ACCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	398	0.0025	-1059	c.477 others(17): Show c.477+1339_477+2397del	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR27_chr6_169452212_169707029	169455885	ACATATTA others(1052): Show ACATATTAGAGTTTTCTTCTTTGACATTTATTCAGCAATTATTATTTAGA TTAAATAATTTTATATTTCTTTTTCTTAAAGTCACATTTGACATTGGAAA AATTTATATAAAAACCATAGCAATATGTGTCAGAAACAGTATGTCAAAAT TTTAAATGATTTACTGAAATTAAGAATATTAAATAAGACTCTGGGCTTTC TACATCTGCTTTATTTATCTATTTTTAGCTAGTTTTAAATAAATTTCATT TTAACCAAGGGGAAACAATATATTTTAAAATGTTTAGGTAACTCTAAGTA TTGGAAAAATAAAAATGAGTTATTCTAAACTTTTGCTTCTCAAAAATATT ACGAGAAAAATGCAGGCACATTTATGGTCGATGTGTGAAAGTTCCAGTAA GGATCCCAGGAAGTCAACCCTGTGACATTTCTTAGAAGGTGAGGTCACAG CACACTGCGTCTCTTGTGAAAATAGAGACAAGTGGTGGCTGGTGAAGCTC TGGGTGGGATGAAAGCCCCCAGCTCCCTGGTTTCACGGATAAAAGAGACC ACTCTAGATCAGGGCATTCCGGCTGGTCCCAGGAGTCCTCACATGGGGCA TCACAGGCTGCTGAGGTTATCTGGAATCTTGAATTGCCTTGGAAGCATCC TCATTCTTCTAGGATCTTATAACCGTGGGGTCCTGGGATCTTAGGAGTCT GATACATGCAGAGTCAATTCCCAGGACAGGCAGCCTCTGGAGCCCTGCCT CAGTTGTTCAATCATCAACTGTGGGAGGAGGGCCCAGAAGCCATGCTGTG CACAGAGACAAAGGTCCTGGGACAGAGGCCATGCTCACCATGCAGAACCC ATGGGCAGAGGCCACGGTCACCACACAGAACCCACGGGCAGAGACCACGG TCACCACACAGAACCCATGTGCAGAGCCCATACTCACCACACAGAACCCA CGGACACAGCCCATGCTCACGACACAGAACCCACAGGCAGAGGTCACGCT TACCACACAGAACTCATGGTCAGAGGCCACGCTCACCACGCAGAACCCAC AGGCAGAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18999.hp1 NA18944.hp2 NA18999.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0011 a0008c0009t0002 a0008c0009t0011	a0008c0009t0002g0081 a0008c0009t0011g0037 a0008c0009t0002g0081 a0008c0009t0011g0037	2	294	0.0068	-1059	c.64 others(10): Show c.648_*1706del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding		1326		chr6	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(1051): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCT TTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCG AGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTC CCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGG ATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGA CGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTG TAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTG GCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGC CATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGA TTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCC CCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCC TTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	106	0.0094	-1058	c.136 others(19): Show c.1362-2850_1362-1793del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CHEK2_chr22_28682743_28746820	28722259	CGCCGGGC others(1051): Show CGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGA GGCGGAAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGC GGGCGCCTATAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATCATGCCACTGCACTC CAGCCTGGGCGATAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AGAAAAGAAAAGAAAAGAAAACAAAATAGTCAAAATAGAAACAGGGAAAA CTAAGTTAATCATAAAATGTACTTTAGGATGCCCAACATAGACATAGTTC CAAGATACCAGACTGAAGACTGACTTGCATGAAAATCCCTTAGGCATGAC TTTATTTTGTTTGGTTAGATGGGGTCTCACCATGTTGCCCGAGCTGGAGG GCAGTGGCTATTTACAGGCACAATCATAGCTCACTGTAGCCTTAAAATCC TGGGCTCAAGGGATCCTCTAGCCTCACCTTTCTGAGTAGCAGGGACTACA GACTCATGCCGCAGCCCCTAGAGGCATGATTTTTAAAATCCCTACCAGAA TCTGGAGAAGAGTGCTTATATGAACCTTTATTTTCAAAATGTGTCGCACA CACATAGACACCCTCCAAGTCATTCGACTCTCAGATAAGTTTGGGAACGT CTATGGTTTCTTTAACTAAAGAAAAATTGTATTCCTCCTGTCTAATCACG CTGAGCTACTTTTAACTCTATTGGTTGTTTTTGTCAGGTATCCTTTCTAG ATATTACCCAGAAAAACAGTTGTTCATTTTAGATGTTATTTTCATAGTTT CAGAAATGGATGCTTATAAAATGCTACCTGATGAGGCTGATAAACATCTC CACTTGTGCACGATAACCTTGTAGTATTTACAAAGGTAGAAGCTCTAAAG TGAGCCTCTTACAGAAGCACTCACAGCCTAGTACCTGGCATATAAAAAGA GCTCAATAG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	384	0.0026	-1058	c.592 others(17): Show c.592+1660_592+2717del	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	4/14			chr22	TogoVar
NCBP3_chr17_3797158_3851246	3831490	GTGAACCC others(1051): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAAATCGCGCCACTGCAC TCCAGCCTAGCGACGGAGCAAGACTCTGTCTCAAAAAAAAAGGGAAAGAA AAAGTAAATTTAAAATATCTATATATCTACTACCTAGCTTTATGCTTAAT TCGTTATAAGATCTCAGGCACACAAAACATTACATATGAAACTGGGGCCC ACAGTACCTCTCCACATCCCTTCTTTCCCTTCCTTCTCTGAAGCAATTCT GTCAAGGGGGTGGTTCATGGGTCCATAAGAAAATAGAAAGAACAAGATCT ACTGTTTAACAGCACAGTAGGGTGACTACAGTCAATAATAATTTAATTGT AAATTTTAAAATAACATAAAGAGTGTAATTGGATTGTTTGTAACTCAATA AAAGCTTGAGGGGGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACT TTGGGAGGCCAAGGCGGGTGGATCACTTGATGTCAGGAGTTCGAGATCAG CCTGGACAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGC CATGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGATAATCACTCGAACCTGGGAGGCAGAGGTTGCAGTAAGCCGAGATTG TGCCATTGCACTCCAGACTGGGCGACAGGGCAAGACTCCGTCGCAAAAAA AAAAAAAAAAAAAAGAGGATGGATACCCCATTCTCCATGATGCGCTTATT TCATGTCACATGCCTGTATCAAAACATCTCATGTACCCCATAAATATACC CACCTACTATGTACCCACAAAAATTAAAATAAATAAAATAATAATGTAAA AAAGAATTTAATGGGCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGGGGCGGGCAGATCACAAGGTCAGATCGAGACCATCCTGG CCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCAG GTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATCACT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(128): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0054 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0128 a0001c0001t0130 a0001c0007t0021 a0002c0002t0001 a0002c0002t0005 a0002c0002t0043	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0002g0150 a0001c0001t0005g0005 a0001c0001t0005g0075 a0001c0001t0005g0098 a0001c0001t0005g0106 a0001c0001t0005g0109 a0001c0001t0008g0013 a0001c0001t0008g0034 a0001c0001t0008g0043 a0001c0001t0008g0067 a0001c0001t0008g0078 a0001c0001t0008g0099 a0001c0001t0008g0128 a0001c0001t0011g0061 a0001c0001t0011g0066 a0001c0001t0011g0080 a0001c0001t0011g0115 a0001c0001t0011g0117 a0001c0001t0011g0259 a0001c0001t0020g0027 a0001c0001t0020g0249 a0001c0001t0021g0084 a0001c0001t0032g0071 a0001c0001t0032g0072 a0001c0001t0034g0083 a0001c0001t0034g0094 a0001c0001t0036g0102 a0001c0001t0038g0038 a0001c0001t0038g0085 a0001c0001t0043g0064 a0001c0001t0048g0076 a0001c0001t0049g0092 a0001c0001t0054g0122 a0001c0001t0066g0077 a0001c0001t0067g0096 a0001c0001t0071g0134 a0001c0001t0072g0090 a0001c0001t0073g0079 a0001c0001t0075g0081 a0001c0001t0076g0082 a0001c0001t0078g0116 a0001c0001t0086g0100 a0001c0001t0087g0086 a0001c0001t0089g0097 a0001c0001t0112g0123 a0001c0001t0113g0060 a0001c0001t0114g0126 a0001c0001t0128g0070 a0001c0001t0130g0104 a0001c0007t0021g0015 a0002c0002t0001g0007 a0002c0002t0001g0289 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0005g0029 a0002c0002t0005g0287 a0002c0002t0005g0288 a0002c0002t0043g0286	131	370	0.3541	-1058	c.356 others(17): Show c.356-3180_356-2123del	NCBP3	ENSG00000074356.17	transcript	ENST00000389005.6	protein_coding	3/12			chr17	TogoVar
FBXW10_chr17_18739054_18784349	18761522	CCCAAAGT others(1050): Show CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCACTTT TCTTTTTTATGTAACAGCTATAGTATATAAGTTTTGAGTTTTTGGAGTAA GTTTACCAACTTTCAATAAAACCTAACTAGACTTTATTTGGGTTGCATTG AATTTATAGATTAGTTTGGTAAACACACTCAATTAGATCATCTGTGTTCT TTCTTAGAGCCTTAAAGTTTTCTTCATAAAAGTCCTGTGTATTTTTACTT AATGCCTGTACAGTTATAATTTTATTACTATTGTGAATGGTATCTTAATT TTGCTTATATTTTCAAATTAGTTATTGCTGGCATAGAGAAATGCAATTGA TTTTTGTAAATTGATCTTGTGTCTGGCATCCTTGCCAAACTCTCTTATTA GTTGTAAAAGCATGTATGTTTCATAATTGGTTTTTCTTTTTCTTTTTCTT TTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTA GTGCGATCTCAGCTCACTGCCAGCTCCGCCTCCTGGGTTCATGCCATTCT CCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGC CTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGC CAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACTGGCGTGAGCTACTGCACCTGGCCAATAATTGGT TTTTCTACGTAGACAATCCTATCAACTGCAAATGACAATATATTATCTTT TTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTG CTGTGACGCGATCTCGGCTCACTGTAACCTCCGACTCCCTGATTCAAAGG ATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCAC CACGCCCGGCGGCTAATGTTTTTTTGTATTTTAGTAGAGACGAGGTTTCA CTATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCACC TCGGCCTA	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	386	0.0026	-1057	c.143 others(19): Show c.1433+3030_1434-2151del	FBXW10	ENSG00000171931.13	transcript	ENST00000395665.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP1R8_chr1_27825782_27856676	27844992	TAAAGTGC others(1050): Show TAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGACAAATT TCTTAAGTCTCTTTCAGGAGTGAGGATCTGATCTGCTCTGTTTTTCTCAC TGAAAATTAGTGCCCTCGGCCGGGCACGGTGGCTCACCCCTATAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGATCAGGAGATCAAGAC CATGCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAAT TAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGTTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTTTCAA AAAAAAAAAAGAAAGAAAGAAAATTAGTGCCCTCGAGCTTTCTTAGGGAA ATGTGTTCAGGCAGTATAGCATAGTGGTTAAGAGCACAGGCTCTGAAACC GGAGGGGCCATGAGAGAAGTTTGGGATACCTTTTTAGAGACATTGTCTCT TTCTTAATCAGCTTGGATATTTTTGTCCTTTCTCGTCTATATAGAAGCCA TTTGTTCATTGAGCATAGATTGATGGTGAATATAATACCAGAGTGTCCTC TTTAAAGGCATGGATCCTAATATGTGAAAAAATCCAGACTTAAAGCAAAT AAACCAGGGGCTAATTATAATTACTCAAATTAAATAGTGATTCTTTGTTT TCCAAAGGGATTTCTGGGAGTTTTTCTTTCTTTCTTTCTTTCTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCCTTCTGTCGCCCAGGCTGGAG TGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCGTCCCGAGTAGCTGGGACTACAGGTGCACGCC ACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGAGTTTCACC ATGTTAGCCAGGATGGTTTCGACCTCCTGACCTCATGATCTGCCCACCTC GGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02896.hp1 others(1): Show HG02258.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0054	4	340	0.0118	-1057	c.637 others(16): Show c.637+1693_638-949del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	260782	ACAGAGCA others(1050): Show ACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCCGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAG CATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCC GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC CCTCCCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	266	0.0038	-1057	c.43 others(11): Show c.4363_*5419del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3701		chr5	TogoVar
USP7_chr16_8887097_8968906	8913370	AGAGGGAA others(1050): Show AGAGGGAAGACAGGAGAGAAGAGAAGTGAAGTGAAGCGAAGCGAAGAATA TGGGGGCTTGGGGCAGAGAAACAGATGAACAGAAAGAGTAAGGACACTAC AGCCCACTTCTCAGAAATGAGGCGAGCAAGAAGACGGTAGAACGTCTAAC AGACCGAAGGAAGGAACCTGCCAACCTAGAAGTCTACACCGAGTTAAAAT GTCTTTCACAACTGCAGATGAAATAAAATCTTTCTAGGCATGCAAGGTGA AAAAACTCATCTCAGCCGACCCGCACTAAATGATTCCTAACGAGAATCCA TATCCAAATTAAAAACGGAGGAGCATTGCAAGCTGTAAATATGTGGGTCA ACATAAAGCACTTCCCCTCCTCACTCTTTTTATTTTATTTTACTTTCTTG AGAGAGATACTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCACAATCAT GGCTCGCTGCAGACTTAAACTCCAGGGCTCAAGCTATCCTCCCACCTCAG CCTCAAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTG TAGAGATGGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTCCTGGGT TCAAGCAATCCTCCCGACTCAGCCTCCCAAAGTGCTGAAATTACAGGCAT GAGCGACCACACCCATCCTCCCCCTTATTTTAAATATTTCTTTAAAGGAA TGACTATAAATCAGTTAAGGAAAAAGAAAAGAAGCCAATACTAAAATTGT TAAAGTATTTAAACAAGCATTTTATAAAGGAAGACATCCAAATTGCCAAT AAGCATTTGAAAAGGTAAGAACAACCTCACTGATCTTCAAGGAAATACAA ACTAAAATGCAGATAGCACTATACTCCCACCAAAATCTTTCAAAGTCTGG CAACTGACAGCTCCAGTGTGGGTGTGGAGCAACTGCAACTCTGCCACCTT CCTGATGACTGTGCAATTGATAAACCACTTTGGGAATCTCGCTAACTTGA TCCATCAAGCTGGACATACGCACACCCTACAGGCCAGTAATCCTCTTCCT CCAAATGC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0044 a0001c0001t0031g0044	1	338	0.0030	-1057	c.107 others(18): Show c.1078+827_1078+1883del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	10/30			chr16	TogoVar
ZNF469_chr16_88377959_88445753	88380330	CTCACACA others(1050): Show CTCACACATGCGCTCACACACATGCGCTCACACACAGACATGCACTCACA CGCACTCACAGACACGCCCTCACACAGACATGCACTCACACAGATGCATT CACACATACACAGTCACACACAGACATGCACACACACATGCACTCACACA TACGTGCACACACACATGCACTCACACAGACATGCACACACACGCACTAA CACACACGCACTAACACAGACATGCACTCACACACAGACGCCCTCACACA GACATGCACTCACACACATGCACTCACACACGCACACACCCAGACATGCG CTCACACACATGCACTCATACACACACAGACACGCCCTCACACAAGACAT GCATTCACACACATGCACTCACACTCAGACATGCACTCATACACACACAG ACATGCACTCACACACAGACATGCACTCACAGACGTCCTCACACACATGC ACTCACACACATGCACTCACACATGCACACACACCCAGACACACACACAC ACGCACTCACACAGACATGCACTCACATGCACTCACACACAGTCATGCCC TCACCCAGACATGCACTCACACACACTCACAGACATGCACTCACACAGAC ACGCACTCACACACAGACACGCCCTCACACACAGACATGCACTCACACAT ATGCACTCACACAGACATGCACTCACACACATGCGCTCACAGACATGCAC TCACACACATGCACTCACACAGACACGCTCTCACACACAGGCATGCACTC ACACACGCACTCACACACCCGGACATGCACTCGCACACACGCACACACAG ACATGCACTCACACACACACTCACACACAGACACGCCCTCACACACAGAC ATGCACTCACACACATGCATTCACAGACACACACACAGACATGCACTCAC ACACGCACTCACAGACATGCACTCACACGCACTCACACAGACATGCACTC ACACACACGCACTCACACACATGCACTCATGCACTCACACACAGAGACAT GCACTCGCACACAGACACACACTTATACACACATGCACTCACACACAGAG ACATGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0002 a0030c0032t0002	a0030c0032t0002g0333 a0030c0032t0002g0333	1	354	0.0028	-1057	c.-31 others(11): Show c.-3115_-2059del	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding		2628		chr16	TogoVar
COL23A1_chr5_178232618_178595393	178394916	CGGCGGGC others(1049): Show CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTC CCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAG GCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAG GCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGG CCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCA TTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCC TCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAG CTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTC TCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCC AGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGC AGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCC GGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGG CATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGT CCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTC AGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTC TCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0220 a0003c0005t0003g0220	1	236	0.0042	-1056	c.362 others(19): Show c.362-89053_362-87998del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
DIRAS1_chr19_2709567_2726372	2713266	ACACCCAC others(1049): Show ACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACC TCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT AATGCCATCTCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCC ATCCATCACTGTCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTCCACGCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCCAC CACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTC CTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACTTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCA CCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCACCACCTTCTCAACCCTTCACCCCATCCCTCA CTTCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	412	0.0024	-1056	c.28 others(11): Show c.2888_*3943del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1300		chr19	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(1049): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01070.hp1 others(21): Show HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01257.hp1 HG01515.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02698.hp2 HG02738.hp1 HG03239.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG04204.hp1 NA18906.hp1 NA18945.hp2 NA18951.hp1 NA18967.hp2 NA18982.hp1 NA18986.hp2 NA19043.hp1 NA19078.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0021 a0001c0004t0001 a0001c0004t0006	a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0110 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0110 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0002g0016 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0175 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0270 a0001c0001t0018g0031 a0001c0001t0021g0186 a0001c0004t0001g0290 a0001c0004t0006g0288 a0001c0004t0006g0289 a0001c0004t0006g0291 a0001c0004t0006g0292	24	339	0.0708	-1056	c.454 others(17): Show c.454-3559_454-2504del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	166939	CTTCTTGA others(1049): Show CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	3	339	0.0089	-1056	c.454 others(17): Show c.454-3791_454-2736del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DPH7_chr9_137549444_137583925	137565244	GGGGTGAC others(1049): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	340	0.0029	-1056	c.641 others(15): Show c.641-1146_641-91del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GALNT9_chr12_132191372_132334589	132304409	ACACGCCC others(1049): Show ACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCCGGGC ACAGCCTCGCCCGGGCACACGCTCACCCAGACACACCCTTGCCCGGGCAC ACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGACACAC CCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCCGGGCACAGCC TCACCCGGGCACAGCCTCACCGGGGCACACCCTCGCCCGGACACACCCTC ACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCCAGACACACCCTCAC CTGGGCACAGCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCGCCC GGGCACACCCTCACCCGGGCACACCCTCGCCCAGACACACCCTCACCTGG GCACACCCTCGCCCGGGCACACCCTCGCCCGGGCACACCCTCACCCGGGC ACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGCCCGGACAC GCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAGACACGC CCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGGGCACATCC TCACCGGGGCACACCCTCACCCAGACACACCCTCACCCGGGCACAGAATC GCCCAGACACACCCTCACCTGGGCACACCCTCACCCGGGCACAGCCTCAC CCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCT GGGCACAGCCTCGCCCGGGCACACGCTCACCCAGACACACCCTTGCCCGG GCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGAC ACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCAC ACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGGCACAC CCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCACACCC TCACCCGGGCACACCCTCACCCGGGCACAGAATCGCCCAGACACAGCCTG ACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0037 a0006c0037	a0006c0037t0001 a0006c0037t0001	a0006c0037t0001g0010 a0006c0037t0001g0010	1	183	0.0055	-1056	c.239 others(19): Show c.239-19035_239-17980del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
KNDC1_chr10_133155219_133231412	133222627	CTGTGTGT others(1049): Show CTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGT GTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCAT GAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTGAGA GCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCC AGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGCC ATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTT CCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGT GTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGA GCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCC AGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGC TCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCG GTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCTCGGCATGTGT GTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTGTTCCCGGCGTGTGT GTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCTCGGCGTGTGTGTGT CTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGTGAGA GCCCATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGTGAGAGCCCATCC AGGCATGCTCTTCCCGGCGTGTGTGTGCATGTGTGTGAGAGCCCATCCAG GCATGCTCTTCCCGGCGTGTGTGTGCGTGTGTGTGAGAGCCCATCCAGGC ATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTC TTCCCGGCGTGTGTCTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTT CCCGGCA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0014 a0001c0004t0022g0014	1	332	0.0030	-1056	c.501 others(18): Show c.5019-1935_5019-880del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYT1L_chr2_1784113_2336275	2034931	CCCTCCAA others(1049): Show CCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAAT CTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAAC AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTG CAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGG GTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATG CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCCCCCTCCAA TGTGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTC CAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCC TCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCA CCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAA TCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 NA18971.hp2 HG00544.hp2 HG00673.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0001 a0001c0019t0002 a0001c0003t0001 a0001c0019t0002	a0001c0003t0001g0023 a0001c0003t0001g0041 a0001c0019t0002g0061 a0001c0003t0001g0023 a0001c0003t0001g0041 a0001c0019t0002g0061	3	104	0.0289	-1056	c.-15 others(21): Show c.-158+17991_-158+19046del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
TRIP13_chr5_887884_923120	897939	TCAGTCAG others(1049): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGG TGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAG TGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAG GGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCT GGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTG GATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTG TGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGG CTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	402	0.0025	-1056	c.388 others(17): Show c.388+1343_389-1302del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 2609 hits)