Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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	status	chr	external
DDX24_chr14_94043287_94086202	94060449	AGGATTCG others(15): Show AGGATTCGAGCAGGAGCCTGATG	A A	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0005 a0010c0024t0005	a0010c0024t0005g0201 a0010c0024t0005g0201	1	371	0.0027	-22	c.154 others(31): Show c.1540_1561delCATCAGGCTCCTGCTCGAATCC	p.His others(5): Show p.His514fs	DDX24	ENSG00000089737.19	transcript	ENST00000621632.5	protein_coding	5/9	1650/5573	1540/2580	514/859		chr14	TogoVar
DDX50_chr10_68896315_68951847	68946361	CATGATTC others(27): Show CATGATTCCGACTGGATACTCTCAGTGCCAGCCAA	C C	frameshift_variant frameshift_variant	HIGH	HG02129.hp2 HG02129.hp2	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0001 a0000c0010t0001	a0000c0010t0001g0127 a0000c0010t0001g0127	1	334	0.0030	-34	c.194 others(43): Show c.1948_1981delGATTCCGACTGGATACTCTCAGTGCCAGCCAAAT	p.Asp others(5): Show p.Asp650fs	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	15/15	2018/2501	1948/2214	650/737	INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX51_chr12_132131594_132149319	132144070	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01255.hp1 HG01981.hp2 HG02809.hp1 others(3): Show HG01255.hp1 HG01981.hp2 HG02809.hp1 HG03516.hp1 HG03704.hp2 NA19083.hp2	a0006 a0006	a0006c0011 a0006c0014 a0006c0023 a0006c0011 a0006c0014 a0006c0023	a0006c0011t0001 a0006c0011t0031 a0006c0014t0002 others(2): Show a0006c0011t0001 a0006c0011t0031 a0006c0014t0002 a0006c0014t0003 a0006c0023t0009	a0006c0011t0001g0021 a0006c0011t0031g0038 a0006c0014t0002g0037 others(2): Show a0006c0011t0001g0021 a0006c0011t0031g0038 a0006c0014t0002g0037 a0006c0014t0003g0039 a0006c0023t0009g0036	6	334	0.0180	1	c.226 others(4): Show c.226dupG	p.Val others(4): Show p.Val76fs	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding	1/15	249/4702	226/2001	76/666		chr12	TogoVar
DDX51_chr12_132131594_132149319	132144123	TGCAGCCG others(46): Show TGCAGCCGCCTCGGTCTGCGCGGGCTCCCGCTGCTGCTGCCGTTCGCGGG CCCG	T T	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0034 a0013c0021t0001g0034	1	334	0.0030	-53	c.121 others(60): Show c.121_173delCGGGCCCGCGAACGGCAGCAGCAGCGGGAGCCCGCGCA GACCGAGGCGGCTGC	p.Arg others(4): Show p.Arg41fs	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding	1/15	196/4702	121/2001	41/666		chr12	TogoVar
DDX53_chrX_22994960_23008589	23000966	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0024 a0008c0008t0024	a0008c0008t0024g0000 a0008c0008t0024g0000	1	358	0.0028	-1	c.912 others(4): Show c.912delC	p.Thr others(5): Show p.Thr305fs	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	1010/3630	912/1896	304/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DEF8_chr16_89943755_89973060	89961847	G G	GACTTTGA others(3): Show GACTTTGAGCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0055 a0004c0007t0005g0055	1	392	0.0026	10	c.791 others(17): Show c.791_800dupACTTTGAGCC	p.Arg others(5): Show p.Arg268fs	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	8/13	968/3620	801/1356	267/451	INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0009 a0002c0003 a0002c0006 a0002c0009	a0002c0003t0001 a0002c0006t0001 a0002c0009t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 others(5): Show a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	62	460	0.1348	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DENND4B_chr1_153924501_153951718	153944088	C C	CCCCTGCG others(6): Show CCCCTGCGGTAGCA	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0094 a0011c0021t0001g0094	1	386	0.0026	13	c.274 others(20): Show c.274_286dupTGCTACCGCAGGG	p.Gly others(4): Show p.Gly96fs	DENND4B	ENSG00000198837.10	transcript	ENST00000361217.9	protein_coding	2/28	727/5728	286/4491	96/1496		chr1	TogoVar
DENND6B_chr22_50304030_50332012	50312587	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG01952.hp2 NA19000.hp1 others(2): Show HG00738.hp1 HG01952.hp2 NA19000.hp1 NA19000.hp2 NA19081.hp1	a0004 a0006 a0004 a0006	a0004c0013 a0004c0019 a0006c0021 a0004c0013 a0004c0019 a0006c0021	a0004c0013t0002 a0004c0013t0003 a0004c0019t0002 others(1): Show a0004c0013t0002 a0004c0013t0003 a0004c0019t0002 a0006c0021t0001	a0004c0013t0002g0029 a0004c0013t0003g0074 a0004c0013t0003g0098 others(2): Show a0004c0013t0002g0029 a0004c0013t0003g0074 a0004c0013t0003g0098 a0004c0019t0002g0038 a0006c0021t0001g0278	5	326	0.0153	1	c.149 others(5): Show c.1495dupC	p.Arg others(5): Show p.Arg499fs	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	18/20	1519/4891	1495/1758	499/585		chr22	TogoVar
DEPP1_chr10_44971128_44983809	44977450	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01261.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03831.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18978.hp1 NA18978.hp2 NA18994.hp1 NA19055.hp2 NA19066.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0009 a0002c0003t0010 a0002c0004t0001	a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 others(6): Show a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 a0002c0003t0002g0007 a0002c0003t0005g0027 a0002c0003t0005g0034 a0002c0003t0009g0028 a0002c0003t0010g0037 a0002c0004t0001g0008	28	424	0.0660	1	c.580 others(4): Show c.580dupC	p.Arg others(5): Show p.Arg194fs	DEPP1	ENSG00000165507.9	transcript	ENST00000298295.4	protein_coding	2/2	797/2120	580/639	194/212		chr10	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0019 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0020 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0017 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0018 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	438	0.4452	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGCR8_chr22_20075241_20116872	20108945	C C	CCAACCTG others(15): Show CCAACCTGCACATCCTCAGCAAG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0008 a0007c0010t0008	a0007c0010t0008g0004 a0007c0010t0008g0004	1	419	0.0024	22	c.218 others(31): Show c.2182_2203dupAACCTGCACATCCTCAGCAAGC	p.Leu others(5): Show p.Leu735fs	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	13/14	2624/4506	2204/2322	735/773	INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKK_chrX_50360409_50475825	50376912	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	-1	c.311 others(5): Show c.3117delT	p.Phe others(6): Show p.Phe1039fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	23/28	3264/7494	3117/3816	1039/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50380072	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	1	c.266 others(5): Show c.2662dupC	p.Arg others(5): Show p.Arg888fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	19/28	2809/7494	2662/3816	888/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50384181	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	1	c.253 others(5): Show c.2535dupT	p.Thr others(5): Show p.Thr846fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	17/28	2682/7494	2535/3816	845/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50384244	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	1	c.247 others(5): Show c.2472dupG	p.Ser others(5): Show p.Ser825fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	17/28	2619/7494	2472/3816	824/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50420422	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0080 a0006c0012t0001g0080	1	248	0.0040	-1	c.922 others(4): Show c.922delC	p.Gln others(5): Show p.Gln308fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	4/28	1069/7494	922/3816	308/1271		chrX	TogoVar
DHCR7_chr11_71429411_71453393	71444874	C C	CTTTGAGC others(15): Show CTTTGAGCTGGGTGAAGATAGGG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0055 a0009c0029t0001g0055	1	410	0.0024	22	c.78_ others(27): Show c.78_79insCCCTATCTTCACCCAGCTCAAA	p.Gly others(4): Show p.Gly27fs	DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	3/9	313/2627	78/1428	26/475		chr11	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0019 others(3): Show a0002 a0006 a0019 a0020 a0024 a0025	a0002c0002 a0002c0005 a0002c0027 others(7): Show a0002c0002 a0002c0005 a0002c0027 a0002c0028 a0006c0007 a0006c0021 a0019c0030 a0020c0035 a0024c0023 a0025c0036	a0002c0002t0001 a0002c0005t0001 a0002c0027t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0027t0001 a0002c0028t0001 a0006c0007t0001 a0006c0021t0001 a0019c0030t0001 a0020c0035t0001 a0024c0023t0001 a0025c0036t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 others(59): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0090 a0002c0002t0001g0100 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0202 a0002c0005t0001g0002 a0002c0005t0001g0007 a0002c0005t0001g0015 a0002c0005t0001g0029 a0002c0005t0001g0188 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0200 a0002c0027t0001g0168 a0002c0028t0001g0081 a0006c0007t0001g0018 a0006c0007t0001g0025 a0006c0007t0001g0108 a0006c0007t0001g0150 a0006c0007t0001g0152 a0006c0007t0001g0160 a0006c0007t0001g0163 a0006c0021t0001g0112 a0006c0021t0001g0165 a0019c0030t0001g0201 a0020c0035t0001g0003 a0024c0023t0001g0098 a0025c0036t0001g0007	132	436	0.3028	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHDH_chr19_48928699_48949969	48944491	GGA GGA	G G	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00642.hp1 HG01106.hp2 others(17): Show HG00140.hp1 HG00642.hp1 HG01106.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02273.hp2 HG02300.hp1 HG02735.hp2 HG03927.hp1 NA18962.hp2 NA18970.hp1 NA18983.hp2 NA18993.hp1 NA19067.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0006c0021 a0002c0005 a0006c0021	a0002c0005t0001 a0006c0021t0001 a0002c0005t0001 a0006c0021t0001	a0002c0005t0001g0002 a0002c0005t0001g0007 a0002c0005t0001g0015 others(10): Show a0002c0005t0001g0002 a0002c0005t0001g0007 a0002c0005t0001g0015 a0002c0005t0001g0029 a0002c0005t0001g0188 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0200 a0006c0021t0001g0112 a0006c0021t0001g0165	20	436	0.0459	-2	c.881 others(9): Show c.881_882delAG	p.Glu others(5): Show p.Glu294fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	6/7	904/1064	881/1005	294/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRS2_chr14_23631364_23650639	23644847	CTGGAAGA others(3): Show CTGGAAGAACT	C C	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0002 a0000c0005t0002	a0000c0005t0002g0038 a0000c0005t0002g0038	1	446	0.0022	-10	c.698 others(17): Show c.698_707delGGAAGAACTT	p.Trp others(5): Show p.Trp233fs	DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding	8/9	1145/1676	698/843	233/280	INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRSX_chrX_2214506_2505976	2221118	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0014 a0008c0010t0014	a0008c0010t0014g0046 a0008c0010t0014g0046	1	50	0.0200	1	c.915 others(4): Show c.915dupC	p.Thr others(5): Show p.Thr306fs	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	7/7	966/2579	915/993	305/330		chrX	TogoVar
DHRSX_chrX_2214506_2505976	2221215	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0013 a0007c0009t0013	a0007c0009t0013g0005 a0007c0009t0013g0005	1	50	0.0200	-1	c.818 others(4): Show c.818delG	p.Gly others(5): Show p.Gly273fs	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	7/7	869/2579	818/993	273/330		chrX	TogoVar
DHX34_chr19_47344315_47387704	47381316	GGCCCCCA others(40): Show GGCCCCCAGGTAAGCACAGGACTGTGGGGACCCGGCCACCTCTGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0238 a0016c0023t0004g0238	1	382	0.0026	-47	c.329 others(59): Show c.3294_3298+42delCCCAGGTAAGCACAGGACTGTGGGGACCCGGCC ACCTCTGCCCAGCC	p.Pro others(6): Show p.Pro1099fs	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding	16/17	3609/4338	3294/3432	1098/1143	INFO_REALIGN_3_PRIME	chr19	TogoVar
DIAPH2_chrX_96679842_97609997	96957992	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0097 a0003c0008t0002g0097	1	147	0.0068	1	c.178 others(5): Show c.1784dupC	p.Pro others(5): Show p.Pro596fs	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/27	2002/9203	1785/3306	595/1101	INFO_REALIGN_3_PRIME	chrX	TogoVar
DICER1_chr14_95081228_95162529	95124663	TAGTATCT others(18): Show TAGTATCTACAAAAAAAAGAAAAGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0002 a0008c0018t0002	a0008c0018t0002g0204 a0008c0018t0002g0204	1	306	0.0033	-25	c.904 others(35): Show c.904-20_908delTTCTTTTCTTTTTTTTGTAGATACT	p.Leu others(5): Show p.Leu303fs	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/27	1253/10384	904/5769	302/1922		chr14	TogoVar
DIP2B_chr12_50499985_50753657	50741409	CTGTCAGA others(27): Show CTGTCAGAGCGTCATGATGCATTGTATGTGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0004 a0008c0014t0004	a0008c0014t0004g0225 a0008c0014t0004g0225	1	284	0.0035	-34	c.435 others(45): Show c.4355-6_4382delTGTCAGAGCGTCATGATGCATTGTATGTGGTGGG	p.His others(6): Show p.His1454fs	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	37/38		4355/4731	1452/1576		chr12	TogoVar
DIPK2B_chrX_45143373_45205876	45154088	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0028 a0010c0012t0028	a0010c0012t0028g0162 a0010c0012t0028g0162	1	307	0.0033	1	c.782 others(4): Show c.782dupC	p.Asp others(5): Show p.Asp262fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	4/5	832/4631	782/1302	261/433		chrX	TogoVar
DIPK2B_chrX_45143373_45205876	45157781	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0131 a0008c0010t0003g0131	1	307	0.0033	1	c.605 others(4): Show c.605dupT	p.Thr others(5): Show p.Thr203fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/5	655/4631	605/1302	202/433		chrX	TogoVar
DIPK2B_chrX_45143373_45205876	45157853	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18998.hp1 NA18998.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0209 a0009c0011t0001g0209	1	307	0.0033	1	c.533 others(4): Show c.533dupA	p.Arg others(5): Show p.Arg179fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/5	583/4631	533/1302	178/433		chrX	TogoVar
DIPK2B_chrX_45143373_45205876	45157879	T T	TGG TGG	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0131 a0008c0010t0003g0131	1	307	0.0033	2	c.506 others(9): Show c.506_507dupCC	p.Ser others(5): Show p.Ser170fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/5	557/4631	507/1302	169/433		chrX	TogoVar
DIPK2B_chrX_45143373_45205876	45157886	GC GC	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0131 a0008c0010t0003g0131	1	307	0.0033	-1	c.500 others(4): Show c.500delG	p.Gly others(5): Show p.Gly167fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/5	550/4631	500/1302	167/433		chrX	TogoVar
DIPK2B_chrX_45143373_45205876	45191975	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0002 a0015c0019t0002	a0015c0019t0002g0236 a0015c0019t0002g0236	1	307	0.0033	-1	c.273 others(4): Show c.273delC	p.Asp others(4): Show p.Asp92fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	2/5	323/4631	273/1302	91/433		chrX	TogoVar
DLG3_chrX_70439835_70510490	70445327	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.131 others(4): Show c.131dupG	p.Asn others(4): Show p.Asn45fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	499/6042	132/2454	44/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445327	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	278	0.0036	-1	c.131 others(4): Show c.131delG	p.Gly others(4): Show p.Gly44fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	498/6042	131/2454	44/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445351	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.150 others(8): Show c.150_151insG	p.Tyr others(4): Show p.Tyr51fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	518/6042	151/2454	51/817		chrX	TogoVar
DLG3_chrX_70439835_70510490	70445354	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	278	0.0036	-1	c.158 others(4): Show c.158delG	p.Gly others(4): Show p.Gly53fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	525/6042	158/2454	53/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445397	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.201 others(4): Show c.201dupC	p.Thr others(4): Show p.Thr68fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	569/6042	202/2454	68/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445403	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0131 a0007c0004t0002g0131	1	278	0.0036	1	c.206 others(4): Show c.206dupC	p.Arg others(4): Show p.Arg70fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	574/6042	207/2454	69/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445418	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.217 others(8): Show c.217_218insA	p.Ala others(4): Show p.Ala73fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	585/6042	218/2454	73/817		chrX	TogoVar
DLG3_chrX_70439835_70510490	70445432	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.231 others(8): Show c.231_232insG	p.Thr others(4): Show p.Thr78fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	599/6042	232/2454	78/817		chrX	TogoVar
DLG3_chrX_70439835_70510490	70445484	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.288 others(4): Show c.288dupC	p.Lys others(4): Show p.Lys97fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	656/6042	289/2454	97/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445489	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	278	0.0036	1	c.291 others(4): Show c.291dupA	p.Leu others(4): Show p.Leu98fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	659/6042	292/2454	98/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445506	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.309 others(4): Show c.309dupC	p.Ser others(5): Show p.Ser104fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	677/6042	310/2454	104/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445514	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.315 others(4): Show c.315dupG	p.Trp others(5): Show p.Trp106fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	683/6042	316/2454	106/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445541	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.343 others(4): Show c.343dupG	p.Asp others(5): Show p.Asp115fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	711/6042	344/2454	115/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70449752	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.598 others(4): Show c.598dupG	p.Val others(5): Show p.Val200fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	4/19	966/6042	599/2454	200/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70450172	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0245 a0008c0010t0031g0245	1	278	0.0036	1	c.710 others(4): Show c.710dupG	p.Ser others(5): Show p.Ser239fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	5/19	1078/6042	711/2454	237/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70450250	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	278	0.0036	1	c.791 others(4): Show c.791dupG	p.Ala others(5): Show p.Ala265fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	5/19	1159/6042	792/2454	264/817	INFO_REALIGN_3_PRIME	chrX	TogoVar

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