Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SIGIRR_chr11_400716_419999	401184	CCCCGCTC others(361): Show CCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACC CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACCCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG03471.hp1 others(6): Show HG02717.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0002g0034 a0001c0001t0004g0238 a0001c0004t0001g0001 a0001c0004t0001g0228 a0001c0004t0001g0229	9	242	0.0372	-368	c.43 others(11): Show c.4344_*4711del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4531		chr11	TogoVar
SIGIRR_chr11_400716_419999	402506	GGCTCCAC others(361): Show GGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACC CCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCC GACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTC ACCCCCGCCCCGCTCACCCCTGCCCCGCTCACCCCGGGCCCCGCTCACCC CCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCC CGGGACCCGCTCACCCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	242	0.0041	-368	c.30 others(11): Show c.3022_*3389del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3209		chr11	TogoVar
SORCS2_chr4_7187538_7747827	7448875	TCTTCCTC others(361): Show TCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCC TCCCTCCCTCCCTCCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTC CCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCC CTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0010 a0010	a0010c0040 a0010c0040	a0010c0040t0004 a0010c0040t0004	a0010c0040t0004g0024 a0010c0040t0004g0024	1	168	0.0060	-368	c.548 others(19): Show c.548+52521_548+52888del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26						chr4	TogoVar
SRRM3_chr7_76196896_76292287	76265798	ATTTATAT others(361): Show ATTTATATATTTTATATATTTAATAAATATTTATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0283 a0002c0006t0001g0283	1	324	0.0031	-368	c.830 others(15): Show c.830+331_830+698del		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14						chr7	TogoVar
STK38L_chr12_27239286_27330959	27241194	ATATATAT others(361): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATTACATATATGACTCTGTATA GTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATA TGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATAT ATATTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCT GTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATTAC ATATATGACTCTGTATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	374	0.0027	-368	c.-31 others(11): Show c.-3149_-2782del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3091		chr12	TogoVar
TAF4_chr20_61969798_62070881	62057665	GGGGGGCC others(361): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG GCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAG GCCACAGACAATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18962.hp2 HG02300.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0151 a0001c0001t0001g0170	2	314	0.0064	-368	c.136 others(19): Show c.1360+6418_1360+6785del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
VPS53_chr17_503668_719839	613255	ATTCACAC others(361): Show ATTCACACAGTGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGT GAATTCACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACAC AGTGAAAACCTGCACAGATATTCACAGCAGTAATCAAATAGTGAATTCAC ACAGTGAAAACCTGCACAGATATTCACAGCAGTATTCAAATAGTGAATTC ACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAA AACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGTACA GATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACCTGTA CAAATATTCACATAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0132 a0007c0013t0132	a0007c0013t0132g0163 a0007c0013t0132g0163	1	232	0.0043	-368	c.111 others(20): Show c.1116+9910_1116+10277del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21						chr17	TogoVar
ZC3H3_chr8_143432659_143546447	143488110	CACACAGA others(361): Show CACACAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCACACA CAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCACACACAGA ACAGCACCCGCTACACAGCCCCATCACCACGAAGCTCAGACACAGAACAG CACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACC CGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCT ACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACAC GGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCACGACC CCATCACCACGAAGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0177 a0007c0008t0001g0177	1	352	0.0028	-368	c.171 others(21): Show c.1716-12893_1716-12526del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143488135	ACCCCATC others(361): Show ACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCACGACCC CATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACAGCCCCATC ACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCA CGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTC ACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACAC ACAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG03098.hp1 others(4): Show HG02818.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03540.hp2 NA19043.hp1	a0007 a0015 a0007 a0015	a0007c0008 a0015c0026 a0007c0008 a0015c0026	a0007c0008t0001 a0015c0026t0001 a0007c0008t0001 a0015c0026t0001	a0007c0008t0001g0170 a0007c0008t0001g0171 a0007c0008t0001g0172 others(4): Show a0007c0008t0001g0170 a0007c0008t0001g0171 a0007c0008t0001g0172 a0007c0008t0001g0173 a0007c0008t0001g0174 a0015c0026t0001g0175 a0015c0026t0001g0176	7	352	0.0199	-368	c.171 others(21): Show c.1716-12918_1716-12551del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393444	CGGGAAGG others(361): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0094 a0001c0005t0094	a0001c0005t0094g0196 a0001c0005t0094g0196	1	346	0.0029	-368	c.181 others(21): Show c.1811-13509_1811-13142del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ABCG1_chr21_42214140_42302244	42283676	AACCCCCA others(360): Show AACCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACCACCCACCACC CAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGT ACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGA CAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCC GCCCAGATGAGTGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG00741.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0194 a0001c0001t0008g0195	2	354	0.0057	-367	c.735 others(15): Show c.735-883_735-517del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14						chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283694	ACCTGGAC others(360): Show ACCTGGACAGTTGTGAAGTACCACCCACCACCCAGATGAGTGGGGACCCC CCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCAGATGA GTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCC GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC CCCCCCACCTCTGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	354	0.0028	-367	c.735 others(15): Show c.735-853_735-487del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GNTL1_chr17_82937149_83056770	82976443	TATGGAGA others(360): Show TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGG CCAGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCCGACTCCA TCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACAAGGGCCCCGGGACAG AGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGG CCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATG GAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAG AGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTC CCAGGGACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0222 a0002c0010t0007g0222	1	266	0.0038	-367	c.460 others(19): Show c.460-11064_460-10698del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83055345	GGTTCCCT others(360): Show GGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGGGTGGGT TGACAGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTGGGTGCTG GGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAAACTCGGTGCT GGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGC TGGGTGGGGAGACAGGTTCCCTGCAGGTCCCCACAGACAGTGTTAGACTC GGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACT CGGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCCCACAGACAGTG TTAGACTCGGTGCTGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0012 a0001c0014t0001g0012	1	266	0.0038	-367	c.-39 others(11): Show c.-3961_-3595del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding					3576		chr17	TogoVar
CRX_chr19_47816937_47848324	47831930	CGTTTCAC others(360): Show CGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGAT CCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTGCAGATGTGAGCCACCA CACCTGGCCCCTAGAACAATTTTTTAAAACTATATAATGGAGATCTTTTA AAATCAGTTCAGAGAGCAGCCTTATGTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTGGCTTGATCTTGGCTC ATTGCAACTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGT ATTTTCTGCAGAGACGGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02717.hp1 others(5): Show HG00642.hp1 HG01433.hp2 HG02717.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0009 a0001c0001t0003 a0002c0002t0009	a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 others(5): Show a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0002c0002t0009g0124 a0002c0002t0009g0223	8	344	0.0233	-367	c.-35 others(17): Show c.-35-2445_-35-2079del		CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1090532	GAAAGTGC others(360): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGTTGTTGTTGTTATTATTATTATTA TTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00639.hp2 others(9): Show HG00408.hp1 HG00544.hp1 HG00639.hp2 HG01358.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02647.hp1 HG03209.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0010	a0001c0001t0124 a0002c0002t0006 a0002c0002t0078 others(8): Show a0001c0001t0124 a0002c0002t0006 a0002c0002t0078 a0002c0002t0079 a0002c0002t0085 a0002c0002t0116 a0002c0002t0127 a0002c0002t0129 a0002c0002t0139 a0004c0005t0122 a0005c0010t0082	a0001c0001t0124g0050 a0002c0002t0006g0122 a0002c0002t0006g0125 others(9): Show a0001c0001t0124g0050 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0085g0142 a0002c0002t0116g0107 a0002c0002t0127g0155 a0002c0002t0129g0106 a0002c0002t0139g0096 a0004c0005t0122g0057 a0005c0010t0082g0126	12	162	0.0741	-367	c.108 others(19): Show c.1086+6953_1086+7319del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
ESPN_chr1_6419776_6465944	6430631	CGTGGTGG others(360): Show CGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATCGCTTGAACCCGGCAGACGGAGGTTGCGGTGAGCCAAGATTGAGCC ATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAGGGGGAA AAAAAAAGAAAAAAAAAAGGCATCTCTCAGTTGGGAGGCATGGGGCTGGC AGGAGCCGGGCTGGGCAAGTCCCAGGCTCTGGGTCTCAGGGAGATTGAGT TGGGAGGATTGGCCCTCCCGGCAGGAGCTCCAGTGGCTGATGGAGGGGAA CAAGGGGTCCAGATCCCTAATCAGGGCAGAGTGAGGAGGGGCAAAGAGCA GGTGGCCCCAAGGCCGGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0006 a0007c0013t0006	a0007c0013t0006g0208 a0007c0013t0006g0209 a0007c0013t0006g0208 a0007c0013t0006g0209	2	276	0.0073	-367	c.488 others(17): Show c.488+2214_488+2580del		ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
HEATR6_chr17_60036008_60083921	60042690	CGTCCTGT others(360): Show CGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGC TGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGT CAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGGT CCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGT GAGGCACCGTCAGCATCCTCGGTCCTGTGCGGCTGTGAGGCACCGTCAGC ATCCTCGCGTCCTGTGTGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCT GTGTGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAG GCACCGTCAGCATCCTCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02572.hp2 HG02895.hp1 HG02897.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0018 a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0018g0018 a0001c0001t0018g0196 a0001c0001t0018g0197	4	250	0.0160	-367	c.50 others(9): Show c.506_*872del		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				506		chr17	TogoVar
IGLON5_chr19_51306644_51335891	51310868	TCTGAGGG others(360): Show TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCAGGGTCTG AGAGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGCCTGGACTCCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp1 others(11): Show HG01109.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0030	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0023 others(8): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0067 a0001c0001t0018g0063 a0001c0001t0030g0025	14	418	0.0335	-367	c.-97 others(9): Show c.-979_-613del		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding					775		chr19	TogoVar
KREMEN2_chr16_2959275_2973380	2959979	AGGTGTGA others(360): Show AGGTGTGAGCCACTGCACCCAACCAAGAATGAACCAACCAACCAACCTAC CTACCTACCTACCTACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCATCTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGT GGCACGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTC TCATGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGAGCCCCCACG TCCGGCTAATTTTGTATTTTCAGTAGAGATGCGGTTTCTCCATGTTGGTC AGGCTGGTCTTGAACTCCCAACCTTAGGTGATCCGCCTGCCTCAGCCTCC CAAAGTGCTGGGATTACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp1 others(3): Show HG01109.hp1 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02976.hp1 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0014 a0002c0002 a0003c0003 a0003c0014	a0002c0002t0001 a0003c0003t0002 a0003c0014t0002 a0002c0002t0001 a0003c0003t0002 a0003c0014t0002	a0002c0002t0001g0030 a0003c0003t0002g0015 a0003c0003t0002g0016 others(2): Show a0002c0002t0001g0030 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0014t0002g0015 a0003c0014t0002g0020	6	434	0.0138	-367	c.-45 others(11): Show c.-4541_-4175del		KREMEN2	ENSG00000131650.15	transcript	ENST00000303746.10	protein_coding					4295		chr16	TogoVar
LRCOL1_chr12_132598151_132615582	132598270	CCTGCTCC others(360): Show CCTGCTCCTCTCCGCGCGCCCCTCCTCCTCTCCGCGCGCCCCTCCTCTCC GCGCGCCCCTCCTCCTCTCCGCTCGCCCCTCCTCTCCGCGCGCCCCTCCT CTCCGCGCGCCCCTGCTCCTCTCCGCGCGCCCCTCCTCCTCTCCGCGCGC CCCTCCTCCTCTCCGCGCGCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTC CGCGCGCCCCCTCCTCTCCGCGCGCCCCTCCTCCTCTCCGCGCGCCCCCT CCTCTCCGCGCGTCCCCTCCTCTCCGCGCGCCCCTGCTCCTCTCCGCGCG CCCCTCCTCTCCGCTCGCCCCTCCTCTCCGCTCGCCCCTCCTCTCCGCGC GCCCCTCCTCTCCGCTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	2	390	0.0051	-367	c.47 others(11): Show c.4765_*5131del		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					4880		chr12	TogoVar
PLEK2_chr14_67381984_67417165	67399322	GTCAGGTG others(360): Show GTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTCTCAGGTGG CAGGAATAAAGAGAAGGGTGGTTTAGGTGGGTCTCAGGTGGCAGGAATAA AGAGAAGGGTAGTTTAGGTGGCTGTCAGGTGGCAGGAATAAAGAGAAGGG TAGTTTAGGTGGCTGTCAGGTGGCAGGAATAGAGAAGGGTCGTTTAGGTG GTTCTCAGGTGGCAGAAATAAAGAGAAGGGTAGTTTAGGTGGCTGTCAGG TGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTCTCAGGTGGCAGGAA TAAAGAGAAGGGTAGTTTAGGTGGTTCTCAGGTGGCAGGAATAAAGAGAA GGGTGGTTTAGGTGGGTC	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	354	0.0028	-367	c.43- others(15): Show c.43-1863_43-1497del		PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8						chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399361	TTCTCAGG others(360): Show TTCTCAGGTGGCAGGAATAAAGAGAAGGGTGGTTTAGGTGGGTCTCAGGT GGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTGTCAGGTGGCAGGAAT AAAGAGAAGGGTAGTTTAGGTGGCTGTCAGGTGGCAGGAATAGAGAAGGG TCGTTTAGGTGGTTCTCAGGTGGCAGAAATAAAGAGAAGGGTAGTTTAGG TGGCTGTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTCTCA GGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTCTCAGGTGGCAGG AATAAAGAGAAGGGTGGTTTAGGTGGGTCTCAGGTGGCAGGAATAAAGAG AAGGGTGGTTTAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02071.hp2 others(12): Show HG00609.hp1 HG00673.hp1 HG02071.hp2 HG02165.hp1 HG02922.hp2 HG03834.hp1 NA18947.hp2 NA18975.hp2 NA18991.hp2 NA19003.hp1 NA19004.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0047 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0228	15	354	0.0424	-367	c.43- others(15): Show c.43-1902_43-1536del		PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8						chr14	TogoVar
PXDN_chr2_1626887_1749515	1719917	GGATGCAG others(360): Show GGATGCAGAGAGGGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGGGAGAT GCACAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGTAGA GAGAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGA TGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGAGATGCACAGAGAGAGGGAGGGATGCAGAGAGAGG GAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGA GAGAGGGAGGGATGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(31): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA19005.hp2 NA19007.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0001c0035 a0010c0031 a0012c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 a0001c0008t0002 a0001c0015t0003 a0001c0035t0003 a0010c0031t0002 a0012c0038t0001	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 others(31): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0003g0241 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0319 a0001c0015t0003g0118 a0001c0035t0003g0099 a0010c0031t0002g0120 a0012c0038t0001g0238	34	322	0.1056	-367	c.200 others(19): Show c.200+23972_200+24338del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
ROBO2_chr3_77035099_77654964	77290856	CTAAAGAC others(360): Show CTAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGA TCACCCCAGACATAAAGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCT AGAGCACTAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAG GCTAGATCACCCCAGACATGAAGTAAAATTGATGGTTAAACGAGTAAGCT GAGGCTAGATCACCCCAGACGTAAAGTAAAATTGACGGGTAAACGGGTAA GCTGAGGCTAGATCACCCCAGACATAAAGTAAAACTGATGGTTAAACGGG AAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGATGGTTAAATG GGTAAGCTGAGGCTAGAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0156 a0001c0001t0031g0156	1	160	0.0063	-367	c.389 others(21): Show c.389-186557_389-186191del		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
SLC12A7_chr5_1045384_1117063	1072065	CGGGCATC others(360): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0054 a0001c0035t0001g0054	1	118	0.0085	-367	c.224 others(19): Show c.2241+1201_2241+1567del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
TCERG1L_chr10_131087391_131316721	131289493	CGCTGTGT others(360): Show CGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGTAT GTGTGCACCGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCA ATGTGAGTGTATGTGTGCACCGCTGTGTGTGAGGTGTGCACTGCCTCCAT CTCCTATCGGTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGAGGTGT GCACTGCCTCCATCTATCAATGTGAGTGTACGTGTGCACTGCTGTGTGTG AGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGAGTGTATGTGTGCA CTGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGTG TGTGTGTATGTGTGCACT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19240.hp1 HG02602.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0136 a0001c0002t0001g0122 a0001c0002t0001g0136	2	324	0.0062	-367	c.670 others(19): Show c.670+18351_670+18717del		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11						chr10	TogoVar
ZNF407_chr18_74592870_75070671	74915887	CAGCATTG others(360): Show CAGCATTGGTTCGAATCGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGTG CTGGTATGGTGAGGTTGTGTGCAGTATTGGTTCGAATCGGGAGTGTGTGT GTGTGTGTGTGCATGTGTGTGCTGGTATGGAGAGGTTGTGTGCAGCATTG GTTCGAATTGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGTGCTGGTATG GTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTGTGTGTGTGTGT GTGTGCATGCATGTGTGTGCTGGTATGGTGAGGTTGTATGCAGCATTGGT TCGAATCGGGAGTGTGTGTGTGTATGTGTGTGTGTACATGTGTGTGCTGG TATGGTGAAGTTGTGTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0089 a0001c0015t0010g0089	1	92	0.0109	-367	c.525 others(19): Show c.5250-4590_5250-4224del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCG1_chr21_42214140_42302244	42283660	ACCCAAAT others(359): Show ACCCAAATGAGTGGGGAACCCCCACCTCTTTCCCACCTGGACAGTTGTGA AGTACCACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCC TGGACAGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCAC CTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGG ACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCC CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCGAAGTCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	354	0.0028	-366	c.735 others(15): Show c.735-895_735-530del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ANO2_chr12_5557655_5950259	5928912	ACCTTATT others(359): Show ACCTTATTTCCTCATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAG TCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTCATTAGTCACTTTC TTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTAC CTTCTTTCCTCATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTC TGTCTTCTTTCCTTACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTT ACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCACTCGTCTACCT TCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTATCTT CTTTCCTTACTCGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0051 a0001c0005t0001g0050 a0001c0001t0001g0051 a0001c0005t0001g0050	2	162	0.0124	-366	c.23- others(15): Show c.23-6474_23-6109del		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24						chr12	TogoVar
ANO2_chr12_5557655_5950259	5932169	AAGGAAAG others(359): Show AAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTAATA AGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGA AGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAA AGAAGATAGACTAGTAAGGAAGGAAGACTGGTAACAAAGTGACTAAAAAG GAAAGAAGGCAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAG ACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAG AAGGTAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGA AAGAAGGTAGACGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	162	0.0124	-366	c.23- others(15): Show c.23-9731_23-9366del		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24						chr12	TogoVar
BANP_chr16_87946434_88082316	88000922	CCATGCAC others(359): Show CCATGCACGCATGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCT CCATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTCCAGACACGTCT CCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCT CCATGCACGCACTTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCT CCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACATCT CCATGCACGCACGTGTGCGGCTGTACTTACCTGTCCTTCCAGACACCCAG ACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCTTCCAG ACACCCAGACACGTCAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(126): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18982.hp2 NA18985.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(9): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0023 a0001c0027 a0001c0032 a0001c0033 a0002c0013 a0002c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0007t0002 a0001c0007t0005 a0001c0008t0001 a0001c0009t0001 a0001c0009t0005 a0001c0012t0001 a0001c0014t0019 a0001c0023t0005 a0001c0027t0007 a0001c0032t0005 a0001c0033t0001 a0002c0013t0001 a0002c0024t0003	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(126): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0005g0253 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0001t0014g0193 a0001c0001t0020g0264 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0007t0005g0088 a0001c0007t0005g0089 a0001c0007t0005g0119 a0001c0007t0005g0282 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273 a0001c0008t0001g0275 a0001c0009t0001g0189 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0014t0019g0199 a0001c0023t0005g0289 a0001c0027t0007g0090 a0001c0032t0005g0107 a0001c0033t0001g0178 a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0024t0003g0171	129	352	0.3665	-366	c.363 others(17): Show c.363-3362_363-2997del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12775754	AGGTGAGA others(359): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03669.hp1 HG03831.hp2 others(2): Show HG02132.hp1 HG03669.hp1 HG03831.hp2 HG03942.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0049 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0049 a0001c0002t0015	a0001c0001t0002g0197 a0001c0001t0004g0025 a0001c0001t0004g0134 others(2): Show a0001c0001t0002g0197 a0001c0001t0004g0025 a0001c0001t0004g0134 a0001c0001t0049g0101 a0001c0002t0015g0148	5	214	0.0234	-366	c.565 others(17): Show c.565+5957_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CTSH_chr15_78916058_78950046	78941155	CGTGGCTC others(359): Show CGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGA TCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCA TCTCTACTAAAAATACAAAAATAAGCCAGACGTGGTGGCATGCACCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAG GCAGAGGTTGCAGTAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGA CAAAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAA ATGTTTTTACTACCTGTGACCCATACATCTGTGAATATTATAAAAATTTA TTCTGGAGCTGGGCGCG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	414	0.0024	-366	c.92- others(15): Show c.92-2350_92-1985del		CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	1/11						chr15	TogoVar
DOCK8_chr9_209865_470255	320615	TCAGAGAT others(359): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02976.hp1 others(2): Show HG02486.hp1 HG02647.hp1 HG02976.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0032	a0001c0033 a0002c0077 a0002c0111 others(2): Show a0001c0033 a0002c0077 a0002c0111 a0014c0034 a0032c0089	a0001c0033t0004 a0002c0077t0003 a0002c0111t0010 others(2): Show a0001c0033t0004 a0002c0077t0003 a0002c0111t0010 a0014c0034t0004 a0032c0089t0001	a0001c0033t0004g0125 a0002c0077t0003g0018 a0002c0111t0010g0248 others(2): Show a0001c0033t0004g0125 a0002c0077t0003g0018 a0002c0111t0010g0248 a0014c0034t0004g0128 a0032c0089t0001g0120	5	256	0.0195	-366	c.827 others(17): Show c.827+3609_827+3974del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380146	GCTTGGAG others(359): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGG AGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGG CTGAGATGGCAGGATCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0047 a0047	a0047c0146 a0047c0146	a0047c0146t0001 a0047c0146t0001	a0047c0146t0001g0013 a0047c0146t0001g0013	1	256	0.0039	-366	c.260 others(17): Show c.2605+577_2605+942del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EMC2_chr8_108438624_108494196	108451308	TTACATCA others(359): Show TTACATCATGATTTTATTGAGCCTTCATAATTATTTCTTGATTTGATTTG TGTTTGATGTTATTATTATATTTATTTTATAAATCAGAAAGCAGAGGCAT CTGTTAATGTTGTTCCTATCATCTTGAATTCTTAAGTACCGCTTCATGCT GCCTCTGTATTTAAACTGAAAGAAAATATGCAAAAACAAAAAATTGAAAT ACCTGAAAAAAATTCACATCTGAATTAGTATTGTCCTTTTCAAGGTTGGG TTGGCTATACATGTAATTCTAGTGGAGCTGTTAGTGATGAAAACATTCCA CAAAACCTTTGTTGGATTACCTTCAGAACCTATGAGACATAGTCTTTTGA ATATTCATAGAGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03453.hp2 HG02896.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0040 a0001c0001t0015g0040	2	364	0.0055	-366	c.219 others(16): Show c.219+817_219+1182del		EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	3/10						chr8	TogoVar
FAM90A22_chr8_7566995_7580006	7572281	AGGCAAGG others(359): Show AGGCAAGGTCTGCTGTGCGGAGGCTGCCTGTCGACGCTGGGCACCTGGGC CGGTGTCCTCCTGCCCATCTGGGGCGACGTACTTGGTCCAAGTTCGGTTG CGGCTGGCGGAGGTTGGAGATTCTCCGGGGCCCCCAGCTCACCTCCCTGG ATGGCGCTTTCGGGGATCTGGAAGGGACCCAGTCTCGGTTTCTTGGGGAA GTTCAGGCAAGCCTGAATCGGAGCCTGGGCAGGTTTCTTGGCTCCTGGCC CGAAGCTGAGATTGGAGCCTAGGCCCAAGCTGTGTGTGGCGGCTGGCGGG CAGGGCTGTGGGGTCACCGCAGGACGTTTGTCTTGTGCCTGGGGTCTGGA GGCCTGGAGCAGGCCGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp1 NA18961.hp2 NA18974.hp1 others(1): Show HG01168.hp1 NA18961.hp2 NA18974.hp1 NA19057.hp1	a0015 a0022 a0026 a0015 a0022 a0026	a0015c0015 a0022c0019 a0026c0027 a0015c0015 a0022c0019 a0026c0027	a0015c0015t0000 a0022c0019t0000 a0026c0027t0000 a0015c0015t0000 a0022c0019t0000 a0026c0027t0000	a0015c0015t0000g0006 a0022c0019t0000g0018 a0026c0027t0000g0021 a0015c0015t0000g0006 a0022c0019t0000g0018 a0026c0027t0000g0021	4	88	0.0455	-366	c.743 others(8): Show c.743_1108del	p.His others(13): Show p.His248_Cys369del	FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	4/4	1108/1395	743/1395	248/464			chr8	TogoVar
FOXN3_chr14_89151177_89422233	89362248	TCCAGCAC others(359): Show TCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCAC CACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCA CCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCC AGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAG CACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCA TCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCC ACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCAC CACCACCATCTCTACGA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0068 a0001c0001t0054g0068	1	230	0.0044	-366	c.544 others(19): Show c.544-11806_544-11441del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
LOC122455340_chr12_53236900_53247722	53245977	GGTGGCTC others(359): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATCGTGAAATCCCA TCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGAGGTGCACGCCTGTA ATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAATCCGGGAG GCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCA ACAGGGCAAGACTCCATCTCAAAAAAAAAAAAGAAAAGGAAAAAAGGACA GAAAGAAAGGAGTGACAATAATCAGTAATTGTTGAATTAAGAATATGGAA GTTCTGGGCCGGGCGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	-366	c.35 others(11): Show c.3537_*3902del		LOC122455340	ENSG00000283536.3	transcript	ENST00000635789.2	protein_coding					3256		chr12	TogoVar
RNF4_chr4_2464106_2520857	2511216	TAAGGTCC others(359): Show TAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCTGTGGCAGCCCC CAGATAGTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCT GTGGCAGCCCCCAGATAGTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCAC ATGGTGTGGCTGTGGCAGCCCCCAGATAGTAAGGAAGGTCCCCAGGTCTT GCAGTCAGCACATGGTGTGGCTGTGGCAGCCCCCAGATAGTAAGGAAGGT CCCCAGGTCTTGCAGTCAGCACATGGTGTGGCTGTGGCAGCCCCCAGATA GTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCTGTGGCA GCCCCCAGATAGTAAGG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0306 a0001c0003t0021g0306	1	378	0.0027	-366	c.205 others(15): Show c.205-635_205-270del		RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	423143	ACTCCCTG others(359): Show ACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCG CCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGG GGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCTC CTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGC CCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCC TGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGA CCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCC TCCCGCCCTGACCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	212	0.0047	-366	c.131 others(18): Show c.1310-1053_1310-688del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12						chr19	TogoVar
SHC2_chr19_411589_466033	423192	GCCCTGAC others(359): Show GCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGG GGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCT CCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCG CCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCC CTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTG ACCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTC CTCCCGCCCTGACCCTCGCTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGT CCTGGGGGGTCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp1 others(40): Show HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01109.hp2 HG01884.hp2 HG01943.hp2 HG02132.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 HG03688.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0003 a0001c0006 a0001c0007 others(7): Show a0001c0003 a0001c0006 a0001c0007 a0001c0017 a0001c0023 a0002c0012 a0002c0024 a0003c0008 a0004c0010 a0006c0011	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(15): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0007t0002 a0001c0007t0003 a0001c0007t0006 a0001c0017t0005 a0001c0023t0007 a0002c0012t0002 a0002c0012t0004 a0002c0024t0003 a0003c0008t0005 a0004c0010t0002 a0006c0011t0005	a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 others(39): Show a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0001g0113 a0001c0003t0002g0001 a0001c0003t0002g0060 a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0078 a0001c0003t0002g0100 a0001c0003t0002g0111 a0001c0003t0002g0117 a0001c0003t0002g0150 a0001c0003t0002g0181 a0001c0003t0004g0108 a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0010g0077 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0001c0007t0002g0080 a0001c0007t0003g0030 a0001c0007t0006g0037 a0001c0007t0006g0042 a0001c0007t0006g0055 a0001c0017t0005g0056 a0001c0023t0007g0186 a0002c0012t0002g0203 a0002c0012t0004g0193 a0002c0024t0003g0188 a0003c0008t0005g0182 a0004c0010t0002g0067 a0004c0010t0002g0068 a0006c0011t0005g0059 a0006c0011t0005g0063	43	212	0.2028	-366	c.131 others(18): Show c.1310-1102_1310-737del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12						chr19	TogoVar
SHOX_chrX_625791_656584	628548	TCTTTCTC others(359): Show TCTTTCTCTCTCTATCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTTC TCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTCTCTCTCTCCATCTC TCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATCTGTCTGTGTCTCTC TTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTC TATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATCTCTCCCTCTCTCTCCC TGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTG TTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTGTTTCTCTATCTC CATCTCTCTGTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01257.hp1 others(18): Show HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01981.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(17): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0046 a0001c0001t0069 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0104 a0001c0001t0110 a0001c0001t0163 a0001c0001t0164 a0001c0001t0182 a0001c0001t0183 a0001c0001t0187 a0001c0001t0189 a0001c0001t0192	a0001c0001t0001g0005 a0001c0001t0007g0076 a0001c0001t0016g0074 others(17): Show a0001c0001t0001g0005 a0001c0001t0007g0076 a0001c0001t0016g0074 a0001c0001t0019g0082 a0001c0001t0020g0072 a0001c0001t0027g0156 a0001c0001t0046g0118 a0001c0001t0069g0102 a0001c0001t0090g0084 a0001c0001t0091g0119 a0001c0001t0092g0078 a0001c0001t0104g0079 a0001c0001t0110g0153 a0001c0001t0163g0016 a0001c0001t0164g0080 a0001c0001t0182g0083 a0001c0001t0183g0081 a0001c0001t0187g0071 a0001c0001t0189g0067 a0001c0001t0192g0073	21	220	0.0955	-366	c.-23 others(11): Show c.-2349_-1984del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding					2242		chrX	TogoVar
STK32B_chr4_5046480_5505989	5317084	ATATAATA others(359): Show ATATAATATATATGATATAATATATAATATATATAATACATTATAATATA TAATATATATGTATAATATACATATTACATATATATAACATATAATATAT ATATATAACATATATATATTATATATATAACATATATATATTATATATAA CATATATATATTATATATAACATATAACATATATATAATATATAACATAT AACATATATATAATATATAATATATAACATATGTATAATATATATTACAT ATATAATACATATATATAATATATATAATGTATATGTATTATATATATTA CATATATATAATATATATAATGTATATGTATTATATATAATACATATATA TTACATATATACATAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02055.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0020 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0001t0002g0020 a0001c0005t0002g0016 a0001c0005t0002g0017	3	170	0.0177	-366	c.261 others(19): Show c.261-14135_261-13770del		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11						chr4	TogoVar
TUBGCP2_chr10_133273635_133313872	133291354	TCCGTGTC others(359): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	284	0.0035	-366	c.121 others(18): Show c.1214+779_1214+1144del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ABCG1_chr21_42214140_42302244	42283714	CCACCCAC others(358): Show CCACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGA CAGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCT GTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCC CCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGA GTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCC CGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGC GAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCC TGGACAGTTGCAAAGT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	354	0.0028	-365	c.735 others(15): Show c.735-844_735-480del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
CENPJ_chr13_24877279_24927861	24878729	CCACATAG others(358): Show CCACATAGAGAGTGGGTCTTCCTCTCTGTCCACTGATTTAGCATCAGTCT CCTCTGAAAACACCCTCACAGACACACCTAGAAATGCTTCACCAGCCATT GAGGCATCCCTCAATCCAGCCAAGTTAACAACTAATATTAACCATCACAG TCAGTTTATGCATAAAGGTATAATGCTTTGTGTGGAATGCAAATGAACTG TAACAAGGGATGGTGGTGACAAAGCCCACTGGCTTCATTTAGGAAGACCT TGTGAGAAGGAATTTAAAGAGAGCAGAAGAATGGAAAGAATGGGATTTTG CAGGAAACCACTACAGATGCCTTTTGGAAGCATAGAGCATAAATTATCAA TAGGCCCCTGAGAACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0279 a0001c0025t0006g0279	1	440	0.0023	-365	c.40 others(11): Show c.4083_*4447del		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					3549		chr13	TogoVar
CSMD1_chr8_2930361_4999914	3795659	CATAGATA others(358): Show CATAGATATAGATATATATCTATCATGTATAGATATAGATATATATCTAT CAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATACCTATCATG TACAGCTATAGATACCTATCATGTACAGATATAGATATATACCTATCATG TACAGATATAGATATATATCTATCATGTACAGATATAGATATATATCTAT CATGTACAGATATAGATATATATCTATCATGTACAGATATATATATCATG TACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATCTATCATGTACAGATATAGATATATATCTATCATGTATA TAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	-365	c.819 others(19): Show c.819-41982_819-41618del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619008	CCGCTCCC others(358): Show CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCACTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG02280.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0215 a0001c0001t0001g0216	2	250	0.0080	-365	c.-10 others(19): Show c.-107+5290_-107+5654del		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar

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Search Results (Total: 10000 hits)