Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADAMTS2_chr5_179105853_179350461	179277884	CCCCTGCG others(84): Show CCCCTGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCC CCCCGAGACCAACGGCTGACCCCCTCCAAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0261 a0003c0003t0001g0261	1	276	0.0036	-91	c.535 others(108): Show c.535-4911_535-4821delTCAGCCTTTGGTCTTGGAGGGGGTCAGC CGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTT TGGTCTCGCAGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277908	CCCCCCCG others(84): Show CCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCC TCCAAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0003 a0007c0005t0003	a0007c0005t0003g0250 a0007c0005t0003g0250	1	276	0.0036	-91	c.535 others(108): Show c.535-4935_535-4845delTCAGCCTTTGGTCTCGGGGGGGGGTCAG CCTTTGGTCTTGGAGGGGGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTT TGGTCTCGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278057	CCGAGACC others(84): Show CCGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCACCCCCGAG ACAAAAGGCTGACCACCCCCGAGACCAAAGGCTGACCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02895.hp1 HG02109.hp1 HG02630.hp1 HG02895.hp1	a0002 a0003 a0036 a0002 a0003 a0036	a0002c0030 a0003c0109 a0036c0081 a0002c0030 a0003c0109 a0036c0081	a0002c0030t0011 a0003c0109t0012 a0036c0081t0028 a0002c0030t0011 a0003c0109t0012 a0036c0081t0028	a0002c0030t0011g0128 a0003c0109t0012g0203 a0036c0081t0028g0053 a0002c0030t0011g0128 a0003c0109t0012g0203 a0036c0081t0028g0053	3	276	0.0109	-91	c.535 others(108): Show c.535-5084_535-4994delCGGGGGGTCAGCCTTTGGTCTCGGGGGT GGTCAGCCTTTTGTCTCGGGGGTGGTCAGCCTTTGGTCTCGGGGGGGTCA GCCTTTGGTCTCG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1439159	CGATGGGG others(84): Show CGATGGGGCTCCTGAGTCTCCTCAGCAGATGGAGGCAGGTTCTTCACTAT GGGACTCCTGAGTCTCTCCCAGGATGGAGGCAGACTCTTCAT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0086 a0002c0002t0065g0086	1	106	0.0094	-91	c.101 others(110): Show c.101-60090_101-60000delATGAAGAGTCTGCCTCCATCCTGGGA GAGACTCAGGAGTCCCATAGTGAAGAACCTGCCTCCATCTGCTGAGGAGA CTCAGGAGCCCCATC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1439523	CGATGGGG others(84): Show CGATGGGGCTCCTGAGTCTCCTCAGCAGATGGAGGCAGGTCCTTCACTAT GGGGCTCCTGAGTCTCTCCCAGGATGGAGGCAGGCCCTTCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG02055.hp1 others(7): Show HG00408.hp1 HG00639.hp2 HG02055.hp1 HG02083.hp2 HG02602.hp2 HG02735.hp1 HG02970.hp2 NA18967.hp1 NA18989.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 others(6): Show a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0001t0059 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0027	a0001c0001t0015g0005 a0001c0001t0018g0027 a0001c0001t0035g0079 others(7): Show a0001c0001t0015g0005 a0001c0001t0018g0027 a0001c0001t0035g0079 a0001c0001t0059g0092 a0002c0002t0002g0043 a0002c0002t0004g0084 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0006g0019 a0002c0002t0027g0021	10	106	0.0943	-91	c.101 others(110): Show c.101-60454_101-60364delATGAAGGGCCTGCCTCCATCCTGGGA GAGACTCAGGAGCCCCATAGTGAAGGACCTGCCTCCATCTGCTGAGGAGA CTCAGGAGCCCCATC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142500221	CGCGCCGC others(84): Show CGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCG CCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0002 a0005c0021t0002	a0005c0021t0002g0102 a0005c0021t0002g0102	1	310	0.0032	-91	c.267 others(110): Show c.2675+9407_2675+9497delGCGCCGCTCCTCCACCTCCCCACGCG CCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGC TCCTCCACCTCCCCA	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30			chr8	TogoVar
ADGRD1_chr12_130948907_131146469	131128971	CCTGTCTG others(84): Show CCTGTCTGGGTGTGAGTGGCAGCCCCGCCCTGCTGTCTGGTGTGAGTGAC AGGCCCGCCCTGCTGTCTGGTGTGAGTGACAGGCCGGCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00738.hp2 others(28): Show HG00140.hp2 HG00323.hp1 HG00738.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0014 a0001c0019 a0001c0022 a0001c0023 a0002c0029 a0003c0041 a0009c0035	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(14): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0003t0004 a0001c0003t0012 a0001c0003t0013 a0001c0005t0003 a0001c0007t0004 a0001c0009t0004 a0001c0014t0004 a0001c0014t0012 a0001c0019t0004 a0001c0022t0016 a0001c0023t0004 a0002c0029t0031 a0003c0041t0004 a0009c0035t0047	a0001c0001t0002g0149 a0001c0001t0015g0060 a0001c0001t0016g0147 others(28): Show a0001c0001t0002g0149 a0001c0001t0015g0060 a0001c0001t0016g0147 a0001c0001t0016g0182 a0001c0003t0004g0013 a0001c0003t0004g0104 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0004g0188 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0192 a0001c0003t0004g0207 a0001c0003t0004g0234 a0001c0003t0004g0237 a0001c0003t0012g0025 a0001c0003t0012g0027 a0001c0003t0013g0129 a0001c0005t0003g0056 a0001c0007t0004g0018 a0001c0007t0004g0102 a0001c0007t0004g0236 a0001c0009t0004g0103 a0001c0014t0004g0105 a0001c0014t0012g0069 a0001c0019t0004g0230 a0001c0022t0016g0109 a0001c0023t0004g0165 a0002c0029t0031g0222 a0003c0041t0004g0178 a0009c0035t0047g0219	31	242	0.1281	-91	c.217 others(110): Show c.2176-2736_2176-2646delGCAGCCCCGCCCTGCTGTCTGGTGTG AGTGACAGGCCCGCCCTGCTGTCTGGTGTGAGTGACAGGCCGGCCCTGCT GTCTGGGTGTGAGTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ALOXE3_chr17_8090900_8123514	8107874	AAAGAAAG others(84): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG03471.hp2 others(2): Show HG00735.hp1 HG01109.hp2 HG03471.hp2 HG03579.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0002 a0002c0004t0003	a0001c0001t0002g0023 a0001c0002t0001g0183 a0002c0003t0002g0154 others(2): Show a0001c0001t0002g0023 a0001c0002t0001g0183 a0002c0003t0002g0154 a0002c0003t0002g0157 a0002c0004t0003g0371	5	422	0.0119	-91	c.168 others(108): Show c.1684+503_1684+593delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMTN_chr4_70513569_70537743	70516297	AAAAAATA others(84): Show AAAAAATATATATATATATATATATATACGTATATATATATATACGTATA TATATACATATATATGTATATATATACATGTATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG03209.hp2 HG02145.hp1 HG02630.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0029 a0001c0001t0001g0030	3	458	0.0066	-91	c.-23 others(102): Show c.-2372_-2282delAAAAATATATATATATATATATATATACGTATAT ATATATATACGTATATATATACATATATATGTATATATATACATGTATAT ATATACG	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2271		chr4	TogoVar
AMTN_chr4_70513569_70537743	70516298	AAAAATAT others(84): Show AAAAATATATATATATATATATATATACGTATATATATATATACGTATAT ATATACATATATATGTATATATATACATGTATATATATACGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0098 a0001c0001t0001g0006 a0001c0001t0001g0098	2	458	0.0044	-91	c.-23 others(102): Show c.-2371_-2281delAAAATATATATATATATATATATATACGTATATA TATATATACGTATATATATACATATATATGTATATATATACATGTATATA TATACGT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2270		chr4	TogoVar
ANKRD11_chr16_89262630_89495561	89290365	GGAGGCTC others(84): Show GGAGGCTCAGGGCTCCAGCGGGGGAGGCTCAGGGCTCCAATTGGGGGAGG CTCAGGGCTCCAATGGGGGGAGGCTCAGGGCTCCAATGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0048 a0003c0013t0001g0048	1	310	0.0032	-91	c.601 others(106): Show c.601+169_601+259delACCCCATTGGAGCCCTGAGCCTCCCCCCAT TGGAGCCCTGAGCCTCCCCCAATTGGAGCCCTGAGCCTCCCCCGCTGGAG CCCTGAGCCTC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	6/12			chr16	TogoVar
ANKRD36_chr2_97108153_97269521	97264169	TAGCATTG others(84): Show TAGCATTGAATCTACTTATGAATACGGTACATATCTCTTTTTGTTTCATT CTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 3_prime_UTR_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show HG00099.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0008 a0011 a0012 a0013 a0018 a0020 a0021 a0023 a0024 a0029 a0035 a0037 a0042 a0047 a0048 a0052	a0001c0001 a0001c0046 a0002c0002 others(20): Show a0001c0001 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0018c0018 a0020c0022 a0021c0021 a0023c0019 a0024c0060 a0029c0055 a0035c0062 a0037c0040 a0042c0043 a0047c0033 a0048c0030 a0052c0026	a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 others(22): Show a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 a0004c0005t0004 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0023c0019t0003 a0024c0060t0002 a0029c0055t0002 a0035c0062t0004 a0037c0040t0002 a0042c0043t0002 a0047c0033t0002 a0048c0030t0002 a0052c0026t0003	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(64): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0046t0002g0051 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0029c0055t0002g0023 a0035c0062t0004g0042 a0037c0040t0002g0211 a0042c0043t0002g0210 a0047c0033t0002g0025 a0048c0030t0002g0003 a0052c0026t0003g0193	67	212	0.3160	-91	c.7- others(100): Show c.7-65_*32delATTGAATCTACTTATGAATACGGTACATATCTCTTT TTGTTTCATTCTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTA AGAGC	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	76/76	14097	INFO_REALIGN_3_PRIME	chr2	TogoVar
API5_chr11_43306996_43349529	43311258	TTTATATA others(84): Show TTTATATATTAATATATAATGTTATATATTATATAATATATAATATTATA TATTAATATATAATATTATATATTATATAATATATAAAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	384	0.0026	-91	c.-86 others(100): Show c.-869_-779delTTATATATTAATATATAATGTTATATATTATATAAT ATATAATATTATATATTAATATATAATATTATATATTATATAATATATAA AATTA	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		737		chr11	TogoVar
ARFIP1_chr4_152774954_152917357	152847037	ACATCTAT others(84): Show ACATCTATGTAGAGATGATTTTGTCCTAGCAATCCCTTTGCCAGCAGTTT AGTCATTGCCTCGTATGTTAATGTTTTTAGGTTTGTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03471.hp2 HG02280.hp1 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0188 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0002g0188 a0001c0001t0008g0176 a0001c0001t0008g0177	3	342	0.0088	-91	c.94- others(108): Show c.94-16568_94-16478delCATCTATGTAGAGATGATTTTGTCCTAG CAATCCCTTTGCCAGCAGTTTAGTCATTGCCTCGTATGTTAATGTTTTTA GGTTTGTTCTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	2/8			chr4	TogoVar
ARHGAP8_chr22_44747575_44867784	44801017	GGGGGCCG others(84): Show GGGGGCCGCCTCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCGCAGCTG TCCATGTGTGAGGGGCACCTCTCCCCGCAGCTGTCCATGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp1 HG02602.hp1 others(8): Show HG00280.hp1 HG01256.hp1 HG02602.hp1 HG02717.hp2 HG02809.hp1 HG03017.hp1 HG03098.hp2 HG03540.hp1 HG04184.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0018 others(5): Show a0001c0001 a0001c0007 a0001c0018 a0002c0003 a0002c0011 a0002c0023 a0003c0005 a0004c0058	a0001c0001t0003 a0001c0007t0001 a0001c0018t0001 others(5): Show a0001c0001t0003 a0001c0007t0001 a0001c0018t0001 a0002c0003t0004 a0002c0011t0005 a0002c0023t0005 a0003c0005t0002 a0004c0058t0002	a0001c0001t0003g0023 a0001c0007t0001g0051 a0001c0007t0001g0140 others(8): Show a0001c0001t0003g0023 a0001c0007t0001g0051 a0001c0007t0001g0140 a0001c0007t0001g0174 a0001c0007t0001g0365 a0001c0018t0001g0385 a0002c0003t0004g0021 a0002c0011t0005g0016 a0002c0023t0005g0039 a0003c0005t0002g0082 a0004c0058t0002g0148	11	390	0.0282	-91	c.80- others(105): Show c.80-1055_80-965delCCGCCTCTCCCCGCAGCTGTGTGGGGGCACC TCTCCCCGCAGCTGTCCATGTGTGAGGGGCACCTCTCCCCGCAGCTGTCC ATGTGTGGGG	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF10_chr8_1818926_1963641	1888925	GGTGAGGG others(84): Show GGTGAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGA GACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0098 a0010c0098	a0010c0098t0003 a0010c0098t0003	a0010c0098t0003g0203 a0010c0098t0003g0203	1	363	0.0028	-91	c.118 others(110): Show c.1182+3224_1182+3314delGGGTCTGTGACGAGACACTGAGTGGG GTGAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTC ACGGAGTGCAGTGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMT_chrX_1610059_1648081	1624691	ACAGGCAG others(84): Show ACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGG TGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(66): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02004.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02896.hp2 HG03239.hp1 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18939.hp2 NA18941.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0004 a0009c0014t0002	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0040 others(66): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0206 a0001c0001t0002g0039 a0001c0001t0002g0120 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0003t0001g0038 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0059 a0001c0003t0001g0094 a0001c0003t0001g0107 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0182 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0089 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0001g0108 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0151 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0002g0096 a0002c0002t0002g0112 a0002c0002t0002g0146 a0002c0002t0002g0154 a0002c0002t0002g0156 a0002c0002t0002g0166 a0002c0002t0002g0172 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0207 a0002c0002t0002g0213 a0004c0004t0004g0148 a0009c0014t0002g0075	69	223	0.3094	-91	c.374 others(106): Show c.374+295_374+385delAGGCAGATGCTGGGAGGTGGGGGCTGACCC CAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGT GGGGGCTGACC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP11A_chr13_112685038_112892168	112803869	GCTTCCCT others(84): Show GCTTCCCTTCCTTCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCC CCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0124 a0001c0005t0001g0124	1	254	0.0039	-91	c.163 others(107): Show c.163-1061_163-971delCTTCCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V1A_chr3_113742035_113817056	113786634	GCTGAAGA others(84): Show GCTGAAGAAAATCTGTACCAAAACATTTACTTTTTTCATGGTTGCCCACA GAAAGCATTATTTCTGAAACTTTTCTGGAAAAATTAAATTTT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	312	0.0032	-91	c.716 others(106): Show c.716+276_716+366delTTTACTTTTTTCATGGTTGCCCACAGAAAG CATTATTTCTGAAACTTTTCTGGAAAAATTAAATTTTCTGAAGAAAATCT GTACCAAAACA	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBS4_chr15_72681207_72743473	72725824	TTTCCCCA others(84): Show TTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCA TCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	398	0.0025	-91	c.587 others(108): Show c.587+1171_587+1261delTCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTTTCCCCAT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725831	ATCCCCCT others(84): Show ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT TTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18954.hp1 NA18975.hp2 others(1): Show HG02723.hp2 NA18954.hp1 NA18975.hp2 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0382 a0002c0002t0001g0186 a0002c0002t0001g0210 others(1): Show a0001c0001t0001g0382 a0002c0002t0001g0186 a0002c0002t0001g0210 a0002c0002t0001g0239	4	398	0.0101	-91	c.587 others(108): Show c.587+1190_587+1280delATCCCCCTTTCCCCATCCCCCTTTCCCC ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT TCCCCCTTTCCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725845	ATCCCCCT others(84): Show ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT TTCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTTCCCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(16): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01891.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02922.hp1 HG03017.hp1 HG03704.hp2 HG03942.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0034 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0005g0038 a0001c0001t0005g0144 a0001c0001t0007g0042 a0005c0011t0001g0040	19	398	0.0477	-91	c.587 others(108): Show c.587+1204_587+1294delATCCCCCTTTCCCCATCCCCCTTTCCCC ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTTCCCCT TCCCCCTTTCCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
C1orf159_chr1_1076823_1121089	1078937	TGGGGACT others(84): Show TGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	326	0.0031	-91	c.38 others(102): Show c.3865_*3955delCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATA GCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGG AGTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2885		chr1	TogoVar
CACNB2_chr10_18135424_18548557	18537730	TCAGGCCA others(84): Show TCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAA AAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	200	0.0050	-91	c.130 others(108): Show c.1303-444_1303-354delCACTGCACTCCAGCCTGGGTAACAGAGT AAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTAT GTCAAGAACAGGC	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18537730	TCAGGCCA others(84): Show TCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAA AAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	302	0.0033	-91	c.114 others(108): Show c.1141-444_1141-354delCACTGCACTCCAGCCTGGGTAACAGAGT AAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTAT GTCAAGAACAGGC	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24317622	GAAAGACA others(84): Show GAAAGACAGACAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01071.hp1 others(23): Show HG00323.hp1 HG01070.hp1 HG01071.hp1 HG02129.hp2 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19070.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0085 others(23): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0301 a0001c0001t0001g0322 a0001c0001t0001g0335 a0001c0001t0001g0353 a0001c0001t0001g0358 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0004g0332	26	366	0.0710	-91	c.212 others(110): Show c.212-29106_212-29016delCAGACAGAAAGAAAGAAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88930654	CGGGGGCA others(84): Show CGGGGGCAGACTGAGGGCTGGGGGTGGAGGAGCGAGGAGATGGGGAGGGG GCAGACTGGGGGCTGGGGGTGGAGGAGCGAGGAGATGGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	284	0.0035	-91	c.152 others(110): Show c.152-29089_152-28999delTCCCCCATCTCCTCGCTCCTCCACCC CCAGCCCCCAGTCTGCCCCCTCCCCATCTCCTCGCTCCTCCACCCCCAGC CCTCAGTCTGCCCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC127_chr5_191868_223153	211766	TGAGACAG others(84): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGAGATGCTCGACATCGCACACTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0037 a0001c0001t0030g0037	2	406	0.0049	-91	c.121 others(108): Show c.121+4872_121+4962delGTCGTGGCTGCAGTGTGCGATGTCGAGC ATCTCAGCGTGCTCACATTGCTGTCCCGTCTGCCCCATCCTGATGGGTGT GTGGTGCTGTCTC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	212373	CGCACACT others(84): Show CGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCATGATGGGG CAGACTGGACAGCAATGTGAGCACGCTGAGATGCTCGACATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp1 others(104): Show HG00099.hp2 HG00140.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0007 a0001c0001 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0013 a0001c0001t0032 others(20): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0032 a0001c0001t0047 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0149 a0001c0001t0151 a0001c0001t0152 a0001c0001t0154 a0001c0001t0157 a0001c0001t0162 a0001c0001t0186 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0289 a0001c0001t0013g0019 a0001c0001t0013g0088 a0001c0001t0032g0020 a0001c0001t0047g0077 a0001c0001t0137g0062 a0001c0001t0138g0105 a0001c0001t0139g0089 a0001c0001t0140g0064 a0001c0001t0141g0060 a0001c0001t0142g0078 a0001c0001t0143g0079 a0001c0001t0144g0080 a0001c0001t0145g0113 a0001c0001t0146g0081 a0001c0001t0149g0082 a0001c0001t0151g0108 a0001c0001t0152g0100 a0001c0001t0154g0121 a0001c0001t0157g0083 a0001c0001t0162g0084 a0001c0001t0186g0059 a0003c0006t0001g0076 a0004c0007t0001g0085	107	406	0.2636	-91	c.121 others(108): Show c.121+4265_121+4355delAATGTCGAGCATCTCAGCGTGCTCACAT TGCTGTCCAGTCTGCCCCATCATGATGGGTGTGTGGTGCTGTCTCGTCAT GGCTGCAGTGTGC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	212842	TGAGACAG others(84): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	406	0.0025	-91	c.121 others(108): Show c.121+3796_121+3886delGTCGTGGCTGCAGTGTGCAATGTCGAGC ATCTCAGCGTGCTCACATTGCTGTCCCGTCTGCCCCATCCTGATGGGTGT GTGGTGCTGTCTC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	212888	ATGTGAGC others(84): Show ATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGA CAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0017 a0001c0001t0034g0017	2	406	0.0049	-91	c.121 others(108): Show c.121+3750_121+3840delCTGCTGTCCCGTCTGCCCCATCCTGATG GGTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCAATGTCGAGCATCT CAGCGTGCTCACA	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC169_chr13_36225775_36302814	36232633	TAAGAATA others(84): Show TAAGAATACAAAAAAAGATGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0003 a0003c0006 others(1): Show a0002c0002 a0002c0003 a0003c0006 a0004c0008	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0003 a0003c0006t0002 a0004c0008t0003	a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0030 others(100): Show a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0188 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0287 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0003g0217 a0002c0002t0003g0249 a0002c0002t0003g0289 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0075 a0002c0003t0002g0144 a0002c0003t0002g0164 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0190 a0002c0003t0003g0010 a0003c0006t0002g0049 a0003c0006t0002g0050 a0004c0008t0003g0288	123	364	0.3379	-91	c.546 others(108): Show c.546-1432_546-1342delTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCATCTT TTTTTGTATTCTT	CCDC169	ENSG00000242715.8	transcript	ENST00000239859.8	protein_coding	7/7			chr13	TogoVar
CCDC40_chr17_80031642_80105613	80090341	GAACAAGG others(84): Show GAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCA CGTGCATGAACAACACAGGACACACACAGCACGTGCATGAAC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	378	0.0027	-91	c.283 others(108): Show c.2832+462_2832+552delAGGGACGCGCGCAGGCACGTGCACGAAC ACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACG TGCATGAACAACA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD163L1_chr12_7349960_7449153	7437183	ATTTTTAT others(84): Show ATTTTTATTTTAATAGTATTACTTTTTTATTTTAATAGTATTTAAAAGTA TTTACTTTTAAATAGTATTTAAATAGTATTTAAAAGTATTAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp1 others(79): Show HG00408.hp1 HG00423.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG01943.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18956.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18994.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA20300.hp2	a0002 a0003 a0009 others(4): Show a0002 a0003 a0009 a0010 a0012 a0018 a0025	a0002c0003 a0002c0032 a0003c0005 others(6): Show a0002c0003 a0002c0032 a0003c0005 a0009c0018 a0010c0042 a0010c0043 a0012c0016 a0018c0031 a0025c0040	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(11): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0032t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0009c0018t0001 a0009c0018t0002 a0010c0042t0002 a0010c0043t0001 a0012c0016t0001 a0018c0031t0001 a0025c0040t0001	a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 others(76): Show a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0034 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0043 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0060 a0002c0003t0001g0064 a0002c0003t0001g0067 a0002c0003t0001g0070 a0002c0003t0001g0072 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0082 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0078 a0002c0003t0002g0081 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0087 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0066 a0002c0032t0001g0036 a0003c0005t0001g0006 a0003c0005t0001g0025 a0003c0005t0001g0028 a0003c0005t0001g0044 a0003c0005t0001g0048 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0065 a0003c0005t0001g0073 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0002g0026 a0003c0005t0002g0027 a0003c0005t0002g0042 a0003c0005t0002g0086 a0003c0005t0003g0045 a0003c0005t0003g0058 a0009c0018t0001g0355 a0009c0018t0002g0356 a0010c0042t0002g0354 a0010c0043t0001g0353 a0012c0016t0001g0031 a0012c0016t0001g0056 a0018c0031t0001g0053 a0025c0040t0001g0069	82	384	0.2135	-91	c.125 others(108): Show c.125-3580_125-3490delGTAATACTTTTAAATACTATTTAAATAC TATTTAAAAGTAAATACTTTTAAATACTATTAAAATAAAAAAGTAATACT ATTAAAATAAAAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CMIP_chr16_81439808_81716762	81669285	CTCCACAC others(84): Show CTCCACACCCACCTCTCACACTCACCTCCTTCCACACCCACTTCATACCT CCTTCCACACCCCTCTCACCTCCTTCCACACCCACCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00639.hp1 others(50): Show HG00099.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG02074.hp1 HG02074.hp2 HG02293.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03225.hp2 HG03239.hp1 HG03654.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18960.hp2 NA18973.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19240.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 others(50): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0205 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0003g0020 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0172 a0001c0001t0003g0196 a0001c0001t0004g0174 a0001c0001t0005g0003 a0001c0001t0006g0185 a0001c0001t0008g0071 a0001c0001t0008g0108 a0001c0001t0010g0057 a0001c0001t0011g0031 a0001c0001t0011g0115 a0001c0001t0012g0135 a0001c0001t0024g0047 a0001c0001t0026g0113 a0001c0001t0032g0156 a0001c0001t0035g0064 a0001c0006t0001g0065 a0002c0004t0001g0259	53	268	0.1978	-91	c.826 others(106): Show c.826-777_826-687delCCCACCTCACCTTCCACACCCACCTCTCAC ACTCACCTCCTTCCACACCCACTTCATACCTCCTTCCACACCCCTCTCAC CTCCTTCCACA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(84): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG03017.hp2 others(1): Show HG01257.hp1 HG01258.hp1 HG03017.hp2 NA18984.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0002t0003 a0004c0011t0003 a0001c0001t0001 a0001c0002t0003 a0004c0011t0003	a0001c0001t0001g0114 a0001c0002t0003g0015 a0004c0011t0003g0012 others(1): Show a0001c0001t0001g0114 a0001c0002t0003g0015 a0004c0011t0003g0012 a0004c0011t0003g0038	4	174	0.0230	-91	c.385 others(110): Show c.385+41926_385+42016delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL7A1_chr3_48559073_48600329	48561633	ATCCCATC others(84): Show ATCCCATCCTTCAGTCGCTTTGTGTTTATTGAGCACCTCCTGCTGCAGGA CCTCCATGTCTGCTACATACACAATGCTCACAGGCTTGCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01074.hp2 others(40): Show HG00544.hp2 HG00609.hp1 HG01074.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18979.hp1 NA19000.hp2 NA19012.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0011 a0018	a0001c0001 a0001c0002 a0001c0022 others(5): Show a0001c0001 a0001c0002 a0001c0022 a0001c0028 a0003c0005 a0009c0008 a0011c0024 a0018c0020	a0001c0001t0001 a0001c0002t0001 a0001c0022t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0022t0001 a0001c0028t0001 a0003c0005t0001 a0009c0008t0001 a0011c0024t0001 a0018c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0059 a0001c0022t0001g0044 a0001c0028t0001g0102 a0003c0005t0001g0056 a0009c0008t0001g0031 a0011c0024t0001g0089 a0018c0020t0001g0045	43	236	0.1822	-91	c.26 others(102): Show c.2682_*2772delCCAGCAAGCCTGTGAGCATTGTGTATGTAGCAGA CATGGAGGTCCTGCAGCAGGAGGTGCTCAATAAACACAAAGCGACTGAAG GATGGGA	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding		2439		chr3	TogoVar
COL7A1_chr3_48559073_48600329	48561698	CATACACA others(84): Show CATACACAATGCTCACAGGCTTGCTGGTCCCATCCTTCAGTCGCTTTGTG TTTATTGAGCACCTCCTGCTGCAGGACCTCCATGTCTGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02647.hp2 HG03098.hp1 others(1): Show HG01928.hp2 HG02647.hp2 HG03098.hp1 HG04204.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0002 a0002c0003 a0006c0032 others(1): Show a0001c0002 a0002c0003 a0006c0032 a0007c0033	a0001c0002t0001 a0002c0003t0001 a0006c0032t0001 others(1): Show a0001c0002t0001 a0002c0003t0001 a0006c0032t0001 a0007c0033t0001	a0001c0002t0001g0001 a0002c0003t0001g0094 a0006c0032t0001g0111 others(1): Show a0001c0002t0001g0001 a0002c0003t0001g0094 a0006c0032t0001g0111 a0007c0033t0001g0112	4	236	0.0170	-91	c.26 others(102): Show c.2617_*2707delATAGCAGACATGGAGGTCCTGCAGCAGGAGGTGC TCAATAAACACAAAGCGACTGAAGGATGGGACCAGCAAGCCTGTGAGCAT TGTGTAT	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding		2374		chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587781	GCCCCCGT others(84): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18940.hp2 NA19030.hp1 others(1): Show HG01168.hp1 NA18940.hp2 NA19030.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0002t0004 a0001c0023t0001 a0001c0001t0001 a0001c0002t0004 a0001c0023t0001	a0001c0001t0001g0141 a0001c0001t0001g0280 a0001c0002t0004g0039 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0280 a0001c0002t0004g0039 a0001c0023t0001g0195	4	348	0.0115	-91	c.927 others(106): Show c.927+694_927+784delACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCC CCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587919	CACCCGCG others(84): Show CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03834.hp2 NA18747.hp2 HG02165.hp1 HG03834.hp2 NA18747.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0019 a0001c0001 a0001c0002 a0009c0019	a0001c0001t0001 a0001c0002t0004 a0009c0019t0002 a0001c0001t0001 a0001c0002t0004 a0009c0019t0002	a0001c0001t0001g0172 a0001c0002t0004g0118 a0009c0019t0002g0253 a0001c0001t0001g0172 a0001c0002t0004g0118 a0009c0019t0002g0253	3	348	0.0086	-91	c.928 others(106): Show c.928-751_928-661delGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTTACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1295489	TCAGCGTA others(84): Show TCAGCGTAACCCTACGGTCCCCTACTCACCACACCTAGTGTAACTCTACA GTCCCCTACTCATGACCCCTACAGTCCCCTACCGACGACCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00639.hp2 others(33): Show HG00408.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02056.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02559.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03710.hp1 NA18973.hp1 NA18975.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19081.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0018 others(3): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0002c0004 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0018t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0009c0013t0003	a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0095 others(33): Show a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0069 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0118 a0001c0002t0001g0077 a0001c0002t0001g0103 a0001c0002t0002g0018 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0003g0111 a0001c0002t0003g0119 a0001c0002t0004g0038 a0001c0002t0004g0063 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0005g0123 a0001c0002t0006g0039 a0001c0018t0003g0107 a0002c0003t0001g0003 a0002c0003t0002g0005 a0002c0003t0002g0029 a0002c0003t0005g0010 a0002c0003t0005g0137 a0002c0004t0004g0023 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0004t0005g0130 a0002c0004t0007g0152 a0009c0013t0003g0153	36	159	0.2264	-91	c.810 others(106): Show c.810+115_810+205delCGACGACCTCCAGCGTAACCCTACGGTCCC CTACTCACCACACCTAGTGTAACTCTACAGTCCCCTACTCATGACCCCTA CAGTCCCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CST9L_chr20_23559732_23573484	23560993	TTCCTTCC others(84): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG03041.hp2 HG01261.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	392	0.0051	-91	c.38 others(102): Show c.3864_*3954delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3738		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561001	TTCCTTCC others(84): Show TTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00609.hp2 others(7): Show HG00408.hp1 HG00609.hp1 HG00609.hp2 HG02083.hp1 HG02083.hp2 HG02523.hp1 HG02738.hp2 HG02970.hp1 NA18961.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0028 a0002c0002t0001g0029 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0052	10	392	0.0255	-91	c.38 others(102): Show c.3856_*3946delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAA GGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3730		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561003	CCTTCCTT others(84): Show CCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02135.hp1 HG02165.hp2 others(9): Show HG00735.hp1 HG02135.hp1 HG02165.hp2 HG03098.hp1 HG03492.hp1 NA18747.hp1 NA18945.hp1 NA18953.hp2 NA18964.hp2 NA18982.hp1 NA19090.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0036 a0002c0002t0001g0001 a0002c0002t0001g0036	12	392	0.0306	-91	c.38 others(102): Show c.3854_*3944delAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3728		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561007	CCTTCCTT others(84): Show CCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-91	c.38 others(102): Show c.3850_*3940delAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGG AAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3724		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561011	CCTTCCTT others(84): Show CCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03239.hp1 NA18971.hp1 others(2): Show HG00323.hp1 HG03239.hp1 NA18971.hp1 NA18977.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0001 a0002c0002t0001g0049 a0002c0002t0001g0053	5	392	0.0128	-91	c.38 others(102): Show c.3846_*3936delAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3720		chr20	TogoVar
DAB2_chr5_39366677_39429980	39418512	AGGGATGA others(84): Show AGGGATGAAGTTATTCACTTTCCAGTTCTTTGGGTATGGATTAACTATAG ACCTTAAGAGGACTTAACTGCCCTGCTCAGATGAGGTTTAAG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0107 a0006c0009t0001g0107	1	414	0.0024	-91	c.-10 others(110): Show c.-102+6201_-102+6291delCTTAAACCTCATCTGAGCAGGGCAGT TAAGTCCTCTTAAGGTCTATAGTTAATCCATACCCAAAGAACTGGAAAGT GAATAACTTCATCCC	DAB2	ENSG00000153071.15	transcript	ENST00000320816.11	protein_coding	1/14			chr5	TogoVar
DDX51_chr12_132131594_132149319	132148945	TGCCGCCG others(84): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-91	c.-47 others(102): Show c.-4740_-4650delGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGG CGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4627		chr12	TogoVar
DHH_chr12_49081656_49099801	49082445	GCACCATC others(84): Show GCACCATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGCTTCCTGAGTAGCCAGGATTACAGGCATGCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0066 a0001c0001t0030g0066	1	424	0.0024	-91	c.73 others(102): Show c.7323_*7413delGTGCATGCCTGTAATCCTGGCTACTCAGGAAGCT GAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGA GATGGTG	DHH	ENSG00000139549.4	transcript	ENST00000649637.2	protein_coding		4210		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2277251	GAGAGAAA others(84): Show GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18971.hp1 HG02074.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0006 a0001c0001t0001g0025	2	50	0.0400	-91	c.389 others(110): Show c.389-10395_389-10305delTTCTTTCCCCCATTTCCTCCTCTTCC TTCTCTCTCCCTCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTC CATCTCTCTTTCTCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar

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Search Results (Total: 10000 hits)