Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
CUL4A_chr13_113204613_113272108	113240243	AGGGTGCG others(24): Show AGGGTGCGGCTTGCTTTGCTGGGCAGCACCAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02965.hp2 others(3): Show HG02280.hp2 HG02451.hp1 HG02965.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0368 a0001c0001t0007g0369 a0001c0003t0007g0370 others(3): Show a0001c0001t0007g0368 a0001c0001t0007g0369 a0001c0003t0007g0370 a0001c0003t0007g0371 a0001c0003t0007g0372 a0001c0003t0007g0373	6	396	0.0152	-31	c.103 others(48): Show c.1035+699_1035+729delGGCTTGCTTTGCTGGGCAGCACCAGGGG TGC		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
CWC27_chr5_64763930_65023750	64840377	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0249 a0002c0004t0001g0249	1	260	0.0039	-31	c.938 others(50): Show c.938+35993_938+36023delAAAAAAAAAAAAAAAAATATATATAT ATATA		CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
CWC27_chr5_64763930_65023750	64939795	TCTTTCAG others(24): Show TCTTTCAGAGATGCCTTGCCCAGAGAGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG03225.hp2 others(1): Show HG02109.hp2 HG02976.hp2 HG03225.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(1): Show a0002c0002 a0002c0004 a0002c0006 a0002c0010	a0002c0002t0002 a0002c0004t0002 a0002c0006t0002 others(1): Show a0002c0002t0002 a0002c0004t0002 a0002c0006t0002 a0002c0010t0002	a0002c0002t0002g0007 a0002c0004t0002g0093 a0002c0006t0002g0008 others(1): Show a0002c0002t0002g0007 a0002c0004t0002g0093 a0002c0006t0002g0008 a0002c0010t0002g0235	4	260	0.0154	-31	c.104 others(52): Show c.1043-31907_1043-31877delCTTTCAGAGATGCCTTGCCCAGAG AGGAGGA		CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13						chr5	TogoVar
CYCS_chr7_25113656_25130260	25118797	ATTTAAAA others(24): Show ATTTAAAATGTTAAATTTAACATTTTAACATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 NA18946.hp1 HG00609.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0054 a0001c0001t0029 a0001c0001t0054	a0001c0001t0029g0036 a0001c0001t0054g0050 a0001c0001t0029g0036 a0001c0001t0054g0050	2	436	0.0046	-31	c.48 others(42): Show c.4873_*4903delCATGTTAAAATGTTAAATTTAACATTTTAAA		CYCS	ENSG00000172115.9	transcript	ENST00000305786.7	protein_coding	3/3				4873		chr7	TogoVar
CYP2A13_chr19_41083451_41101195	41083764	CACTGCTT others(24): Show CACTGCTTCATTGACAATGGCCTGAGGGGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	422	0.0024	-31	c.-47 others(42): Show c.-4707_-4677delACTGCTTCATTGACAATGGCCTGAGGGGTAT		CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding					4686		chr19	TogoVar
CYP2A7_chr19_40870439_40887231	40880797	GGGAGAGA others(24): Show GGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0129 a0004c0004t0005g0129	1	398	0.0025	-31	c.344 others(46): Show c.344-200_344-170delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC C		CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8						chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259753	TATATTAT others(24): Show TATATTATATATATATATATTATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0204 a0001c0001t0007g0204	1	348	0.0029	-31	c.34+ others(48): Show c.34+12690_34+12720delTATATATATATAATATATATATATATAA TAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241755223	GTGTCCTT others(24): Show GTGTCCTTCCCTCCCCCGTGGCCCACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01934.hp2 others(5): Show HG01168.hp2 HG01169.hp2 HG01934.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0003 a0001c0001t0041 a0005c0004t0001 others(2): Show a0001c0001t0003 a0001c0001t0041 a0005c0004t0001 a0005c0004t0027 a0005c0004t0051	a0001c0001t0003g0252 a0001c0001t0003g0288 a0001c0001t0003g0290 others(5): Show a0001c0001t0003g0252 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0041g0251 a0005c0004t0001g0325 a0005c0004t0027g0023 a0005c0004t0027g0371 a0005c0004t0051g0023	8	412	0.0194	-31	c.114 others(48): Show c.1141-610_1141-580delCGTGGCCCACCCACCATGTCCTTCCCTC CCC		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
DAAM2_chr6_39787376_39909869	39909232	GGGGAGAG others(24): Show GGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18968.hp1 NA18975.hp2 HG01255.hp2 NA18968.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0006 a0001c0001t0001 a0001c0004t0006	a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0004t0006g0074 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0004t0006g0074	3	300	0.0100	-31	c.71 others(42): Show c.7196_*7226delGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGA		DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding					4364		chr6	TogoVar
DACH2_chrX_86143451_86837602	86274461	TTTTCTTT others(24): Show TTTTCTTTTTTTTTTGAGACGGAGTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02572.hp1 HG02615.hp2 others(2): Show HG01952.hp1 HG02572.hp1 HG02615.hp2 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0109 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0071	5	166	0.0301	-31	c.489 others(52): Show c.489-102359_489-102329delCTTTTTTTTTTGAGACGGAGTCTT TCTGTTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168308272	CTTGCTCT others(24): Show CTTGCTCTTGGGGGGACCCATTTTCAGGCTGG	C C	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0002 a0021c0028t0002	a0021c0028t0002g0150 a0021c0028t0002g0150	1	476	0.0021	-31	c.145 others(40): Show c.1454_1484delCCAGCCTGAAAATGGGTCCCCCCAAGAGCAA	p.Ala others(5): Show p.Ala485fs	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	4/4	1628/2997	1454/2325	485/774			chr6	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(24): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02965.hp2 others(10): Show HG02451.hp1 HG02630.hp2 HG02965.hp2 HG03927.hp1 NA18943.hp1 NA18979.hp1 NA19007.hp1 NA19007.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19067.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0001 a0001c0002t0002 a0003c0005t0001	a0001c0002t0002g0089 a0001c0002t0002g0098 a0001c0002t0002g0102 others(10): Show a0001c0002t0002g0089 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0139 a0001c0002t0002g0154 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0174 a0003c0005t0001g0298 a0003c0005t0001g0300 a0003c0005t0001g0309 a0003c0005t0001g0310	13	380	0.0342	-31	c.121 others(48): Show c.1218+387_1218+417delCTCCCGCGCTGCCTGCGCCTCCCGCGCT GCC		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DCAF13_chr8_103410386_103448453	103418840	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG03195.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	342	0.0088	-31	c.71- others(46): Show c.71-1422_71-1392delATATATATATATATATATATATATATTTTT T		DCAF13	ENSG00000164934.15	transcript	ENST00000612750.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
DCDC2C_chr2_3698575_3853008	3827091	GGGAGGCA others(24): Show GGGAGGCAGACAAGCCACACCCCAGCCCATCA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	324	0.0031	-31	c.106 others(52): Show c.1066-20062_1066-20032delGGAGGCAGACAAGCCACACCCCAG CCCATCA		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10						chr2	TogoVar
DCLK1_chr13_35763652_36136382	35914329	AAAAATAT others(24): Show AAAAATATATATATATATATACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	230	0.0044	-31	c.823 others(50): Show c.823+32998_823+33028delATATATATATGTATATATATATATAT ATTTT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	4/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	36074487	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp1 HG02965.hp2 others(2): Show HG01099.hp2 HG02622.hp1 HG02965.hp2 HG03239.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0017 a0001c0003 a0001c0004 a0001c0017	a0001c0003t0007 a0001c0004t0004 a0001c0004t0048 others(2): Show a0001c0003t0007 a0001c0004t0004 a0001c0004t0048 a0001c0004t0049 a0001c0017t0003	a0001c0003t0007g0194 a0001c0004t0004g0160 a0001c0004t0048g0217 others(2): Show a0001c0003t0007g0194 a0001c0004t0004g0160 a0001c0004t0048g0217 a0001c0004t0049g0218 a0001c0017t0003g0161	5	230	0.0217	-31	c.723 others(50): Show c.723+37351_723+37381delGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCLK3_chr3_36707421_36769553	36767979	CTTAGAGC others(24): Show CTTAGAGCTTCTCCACCAACATCTTCAGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0330 a0001c0005t0006g0330	1	422	0.0024	-31	c.-37 others(42): Show c.-3747_-3717delATCACTGAAGATGTTGGTGGAGAAGCTCTAA		DCLK3	ENSG00000163673.8	transcript	ENST00000636136.2	protein_coding					3427		chr3	TogoVar
DCT_chr13_94431811_94484682	94472540	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	336	0.0030	-31	c.296 others(48): Show c.296-3526_296-3496delAAATATATATATATATATATATATATAT ATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7						chr13	TogoVar
DCT_chr13_94431811_94484682	94472542	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01346.hp1 others(20): Show HG00597.hp2 HG00621.hp2 HG01346.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02280.hp1 HG04228.hp2 NA18939.hp1 NA18962.hp2 NA18979.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0003g0004 others(19): Show a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0003g0004 a0001c0001t0003g0069 a0001c0001t0003g0082 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0206 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0007g0093 a0001c0001t0012g0097	23	336	0.0685	-31	c.296 others(48): Show c.296-3528_296-3498delAAAAATATATATATATATATATATATAT ATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7						chr13	TogoVar
DCT_chr13_94431811_94484682	94472544	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04204.hp1 others(2): Show HG03490.hp1 HG03492.hp1 HG04204.hp1 NA18970.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0025	a0001c0001t0003g0087 a0001c0001t0006g0088 a0001c0001t0014g0099 others(2): Show a0001c0001t0003g0087 a0001c0001t0006g0088 a0001c0001t0014g0099 a0001c0001t0014g0230 a0001c0001t0025g0228	5	336	0.0149	-31	c.296 others(48): Show c.296-3530_296-3500delAAAAAAATATATATATATATATATATAT ATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7						chr13	TogoVar
DCT_chr13_94431811_94484682	94472546	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0215 a0001c0001t0023g0215	1	336	0.0030	-31	c.296 others(48): Show c.296-3532_296-3502delAAAAAAAAATATATATATATATATATAT ATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7						chr13	TogoVar
DDB1_chr11_61294451_61338105	61316942	GATAGATA others(24): Show GATAGATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	180	0.0056	-31	c.122 others(48): Show c.1226-406_1226-376delTATATATATATATATATATATATATATC TAT		DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	10/26						chr11	TogoVar
DDR2_chr1_162627464_162792405	162728034	TCTATATA others(24): Show TCTATATATATCTATATATAGATATAATCACA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA21309.hp2 HG02647.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0052 a0004c0008t0055 a0001c0002t0052 a0004c0008t0055	a0001c0002t0052g0133 a0004c0008t0055g0107 a0001c0002t0052g0133 a0004c0008t0055g0107	2	302	0.0066	-31	c.82+ others(46): Show c.82+8977_82+9007delATCACACTATATATATCTATATATAGATAT A		DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX60_chr4_168211294_168323752	168297370	GAAAGAAA others(24): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0121 a0005c0011t0001g0121	1	270	0.0037	-31	c.724 others(48): Show c.724-3456_724-3426delTCTTTCTTTCTTTCTTTCTCTTTCTTTC TTT		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37						chr4	TogoVar
DEFA1_chr8_6972649_6985092	6974224	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0069 a0001c0010t0003g0069	1	408	0.0025	-31	c.35 others(42): Show c.3515_*3545delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA		DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding					3424		chr8	TogoVar
DEFB123_chr20_31435632_31455257	31450550	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	372	0.0027	-31	c.37 others(40): Show c.377_*407delTATATATATATATATATATATTTTTTTTTTT		DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding					294		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450552	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01070.hp2 others(28): Show HG00323.hp2 HG00408.hp2 HG01070.hp2 HG01081.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02129.hp1 HG02132.hp1 HG02559.hp1 HG02683.hp2 HG02886.hp1 HG02895.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18939.hp1 NA18942.hp2 NA18956.hp2 NA18968.hp2 NA18980.hp2 NA19030.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19082.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082	31	372	0.0833	-31	c.37 others(40): Show c.379_*409delTATATATATATATATATATTTTTTTTTTTTT		DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding					296		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450554	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01993.hp2 others(1): Show HG00609.hp2 HG01106.hp1 HG01993.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0068	4	372	0.0108	-31	c.38 others(40): Show c.381_*411delTATATATATATATATATTTTTTTTTTTTTTT		DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding					298		chr20	TogoVar
DEFB131A_chr4_9439414_9455666	9452410	TCTGAGTT others(24): Show TCTGAGTTCATTCAGGGAAAAGAACAAAGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	424	0.0024	-31	c.18 others(42): Show c.1897_*1927delCTGAGTTCATTCAGGGAAAAGAACAAAGTCC		DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding					1745		chr4	TogoVar
DEPTOR_chr8_119868722_120055918	119884803	CCCAGGGT others(24): Show CCCAGGGTTCAAGCTCACTGCAACCTCCGCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02280.hp1 others(2): Show HG01167.hp1 HG02055.hp1 HG02280.hp1 HG02897.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004	a0002c0005t0001g0088 a0002c0005t0003g0087 a0002c0005t0003g0089 others(2): Show a0002c0005t0001g0088 a0002c0005t0003g0087 a0002c0005t0003g0089 a0002c0005t0004g0090 a0002c0005t0004g0091	5	198	0.0253	-31	c.122 others(50): Show c.122+10868_122+10898delCAGGGTTCAAGCTCACTGCAACCTCC GCTTC		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119991035	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	198	0.0051	-31	c.605 others(50): Show c.605-10487_605-10457delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313705	CCGCCGCC others(24): Show CCGCCGCCCCGCCTCCCCGCCCCGCCTCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(90): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18981.hp2 NA18984.hp1 NA18990.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0006 a0001c0010 others(2): Show a0001c0001 a0001c0006 a0001c0010 a0003c0003 a0008c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0006t0009 a0001c0010t0003 a0003c0003t0002 a0008c0012t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0079 others(21): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0003g0069 a0001c0001t0004g0007 a0001c0001t0004g0077 a0001c0001t0009g0021 a0001c0001t0016g0023 a0001c0001t0031g0087 a0001c0001t0035g0091 a0001c0001t0036g0100 a0001c0006t0009g0078 a0001c0010t0003g0033 a0003c0003t0002g0026 a0008c0012t0002g0102	93	370	0.2514	-31	c.28 others(42): Show c.2818_*2848delCGGGGAGGCGGGGCGGGGAGGCGGGGCGGCG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					878		chr8	TogoVar
DGKB_chr7_14140049_14907751	14906558	ATTCTCCT others(24): Show ATTCTCCTGCCTCAGCCTCCCAAATAACTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	148	0.0068	-31	c.-41 others(42): Show c.-4185_-4155delCCCAGTTATTTGGGAGGCTGAGGCAGGAGAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding					3808		chr7	TogoVar
DGKI_chr7_137376037_137851974	137517252	AAAAGAAA others(24): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA21309.hp2 HG01243.hp1 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0022 a0001c0008t0015 a0001c0008t0022	a0001c0008t0015g0055 a0001c0008t0022g0026 a0001c0008t0015g0055 a0001c0008t0022g0026	2	94	0.0213	-31	c.224 others(50): Show c.2248+4583_2248+4613delCTTTTTCTTTTCTTTCTTTCTTTCTT TCTTT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	21/32						chr7	TogoVar
DGKK_chrX_50360409_50475825	50447358	ATATATAT others(24): Show ATATATATATATTATATATATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	248	0.0040	-31	c.645 others(50): Show c.645+22645_645+22675delATATATTATATATATATATAATATAT ATATA		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27						chrX	TogoVar
DGKK_chrX_50360409_50475825	50447378	TATATAAT others(24): Show TATATAATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0023 a0005c0008t0003g0023	1	248	0.0040	-31	c.645 others(50): Show c.645+22625_645+22655delTATATATATATATAATATATATATAT TATAT		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27						chrX	TogoVar
DHCR24_chr1_54844627_54892195	54870822	CTTCCAAG others(24): Show CTTCCAAGTCTCTTACAATAAGCACAAATCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(115): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18948.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19065.hp1 NA19072.hp1 NA19077.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0008t0001 a0004c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0205 a0001c0001t0001g0275 a0001c0001t0003g0013 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0012g0099 a0001c0001t0013g0023 a0001c0001t0016g0278 a0001c0001t0016g0285 a0001c0002t0002g0092 a0001c0002t0002g0111 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0179 a0001c0002t0002g0234 a0001c0002t0003g0136 a0001c0002t0004g0204 a0001c0002t0005g0151 a0001c0002t0006g0012 a0001c0002t0006g0048 a0001c0002t0006g0277 a0001c0002t0006g0279 a0001c0002t0006g0280 a0001c0002t0006g0283 a0001c0002t0006g0284 a0001c0002t0017g0281 a0001c0008t0001g0121 a0004c0007t0001g0117	118	386	0.3057	-31	c.876 others(46): Show c.876+497_876+527delAGGATTTGTGCTTATTGTAAGAGACTTGGA A		DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	5/8						chr1	TogoVar
DHCR7_chr11_71429411_71453393	71444961	GCAAGAAA others(24): Show GCAAGAAAGAGAACCTTGCTTACATTATCCCT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0055 a0009c0029t0001g0055	1	410	0.0024	-31	c.-6- others(41): Show c.-6-34_-6-4delAGGGATAATGTAAGCAAGGTTCTCTTTCTTG		DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	2/8						chr11	TogoVar
DHRS12_chr13_51762993_51809163	51770736	GGGGTGTG others(24): Show GGGGTGTGGTAGTTACAAAAATAAGATCATGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG02559.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0321 a0001c0001t0001g0127 a0001c0001t0001g0321	2	420	0.0048	-31	c.559 others(48): Show c.559+1054_559+1084delTCATGATCTTATTTTTGTAACTACCACA CCC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	7/8						chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228161	AGGGGGGA others(24): Show AGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19066.hp1 HG04204.hp1 NA19066.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0038 a0004c0004t0001g0048 a0001c0001t0001g0038 a0004c0004t0001g0048	2	50	0.0400	-31	c.805 others(48): Show c.805-6963_805-6933delCCCTTCCCCCCTCCCTCCCTCCCTTCCC CCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12071419	ACCTTTAT others(24): Show ACCTTTATCTTTTTCACCTCATATTTCACATC	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0174 a0003c0003t0003g0174	1	374	0.0027	-31	c.154 others(48): Show c.154+2233_154+2263delCCTTTATCTTTTTCACCTCATATTTCAC ATC		DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	1/16						chr10	TogoVar
DHX30_chr3_47798138_47855193	47810272	CAAGGAAA others(24): Show CAAGGAAACCTGCAAGTATTATGATAACTAGG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04204.hp1 HG04115.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0039 a0001c0001t0001g0052	2	266	0.0075	-31	c.-27 others(46): Show c.-27-360_-27-330delAACTAGGAAGGAAACCTGCAAGTATTATGA T		DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
DHX57_chr2_38792729_38880934	38844629	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01993.hp2 HG02109.hp1 others(16): Show HG01884.hp2 HG01993.hp2 HG02109.hp1 HG02559.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18952.hp1 NA18956.hp1 NA18961.hp2 NA18982.hp1 NA18995.hp1 NA18997.hp2 NA19003.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0001c0024	a0001c0001t0003 a0001c0003t0001 a0001c0011t0003 others(1): Show a0001c0001t0003 a0001c0003t0001 a0001c0011t0003 a0001c0024t0003	a0001c0001t0003g0001 a0001c0001t0003g0138 a0001c0001t0003g0139 others(15): Show a0001c0001t0003g0001 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0003t0001g0155 a0001c0011t0003g0180 a0001c0024t0003g0181	19	284	0.0669	-31	c.222 others(50): Show c.2220-1450_2220-1420delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	11/23						chr2	TogoVar
DIP2A_chr21_46453891_46575015	46559253	TTAAAACC others(24): Show TTAAAACCAAATGGCTTTTTAGATAACCCTAC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	374	0.0027	-31	c.396 others(48): Show c.3969+861_3969+891delTAAAACCAAATGGCTTTTTAGATAACCC TAC		DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	32/37						chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0276 a0001c0004t0005g0276	1	284	0.0035	-31	c.101 others(50): Show c.101-46331_101-46301delATATATATATATATATATATATATAT ATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	284	0.0035	-31	c.101 others(50): Show c.101-46330_101-46300delTATATATATATATATATATATATATA TATAT		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37						chr12	TogoVar
DIP2B_chr12_50499985_50753657	50689264	TGGCACAT others(24): Show TGGCACATGCCTGTAGTCCCAGCTACTTGGGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01978.hp2 HG00733.hp2 HG00735.hp1 HG01978.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0013 a0004c0009t0013 a0001c0002t0013 a0004c0009t0013	a0001c0002t0013g0112 a0004c0009t0013g0113 a0004c0009t0013g0241 a0001c0002t0013g0112 a0004c0009t0013g0113 a0004c0009t0013g0241	3	284	0.0106	-31	c.155 others(50): Show c.1552-1781_1552-1751delACATGCCTGTAGTCCCAGCTACTTGG GAGGC		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	12/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	295560	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0005 a0001c0002t0003g0006	2	88	0.0227	-31	c.398 others(50): Show c.3987-7170_3987-7140delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	32/36						chr10	TogoVar
DIP2C_chr10_269201_694668	396809	GCTGGCTG others(24): Show GCTGGCTGCAAATCCGGTGGGGGGGGGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00738.hp1 others(21): Show HG00597.hp2 HG00621.hp1 HG00738.hp1 HG01099.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02602.hp2 HG03453.hp1 HG03834.hp1 HG03942.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(3): Show a0001c0001 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0005t0002 a0001c0008t0001 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0033 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0003g0012 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044	24	88	0.2727	-31	c.126 others(50): Show c.1260+2269_1260+2299delTTTCCCCCCCCCCCACCGGATTTGCA GCCAG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	10/36						chr10	TogoVar
DIP2C_chr10_269201_694668	685158	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01258.hp2 HG01515.hp1 HG00738.hp1 HG01258.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0003g0075 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0003g0075	3	88	0.0341	-31	c.85+ others(46): Show c.85+4305_85+4335delATGTATATATATATATATATATATATATTT T		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar

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