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
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	114	0.0088	30	c.110 others(47): Show c.1106+521_1106+522insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD109_chr6_73691203_73833313	73780752	C C	CATATAAA others(23): Show CATATAAATATATTTTATGTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG01515.hp2 others(3): Show HG00140.hp2 HG01515.hp1 HG01515.hp2 HG02015.hp2 NA18963.hp2 NA19085.hp1	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0002 a0002c0003 a0004c0005 others(1): Show a0002c0002 a0002c0003 a0004c0005 a0015c0016	a0002c0002t0002 a0002c0003t0004 a0004c0005t0007 others(1): Show a0002c0002t0002 a0002c0003t0004 a0004c0005t0007 a0015c0016t0018	a0002c0002t0002g0090 a0002c0003t0004g0059 a0004c0005t0007g0195 others(3): Show a0002c0002t0002g0090 a0002c0003t0004g0059 a0004c0005t0007g0195 a0004c0005t0007g0204 a0015c0016t0018g0040 a0015c0016t0018g0272	6	362	0.0166	30	c.190 others(47): Show c.1902+332_1902+361dupGTATATATATAATATATAAATATATTTT AT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	16/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD163L1_chr12_7349960_7449153	7389960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	384	0.0026	30	c.205 others(49): Show c.2050+6134_2050+6135insTATAAATATATATATATATATATATA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7389960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0117 a0001c0029t0001g0117	1	384	0.0026	30	c.205 others(49): Show c.2050+6134_2050+6135insTATATAAATATATATATATATATATA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421024	C C	CATATATA others(23): Show CATATATATATATACGTGTATATATATACAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 homoSapiens_chm13v2.hp1 HG02280.hp1 homoSapiens_chm13v2.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0044 a0001c0001 a0013c0044	a0001c0001t0003 a0013c0044t0002 a0001c0001t0003 a0013c0044t0002	a0001c0001t0003g0234 a0013c0044t0002g0357 a0001c0001t0003g0234 a0013c0044t0002g0357	2	384	0.0052	30	c.766 others(49): Show c.766+11391_766+11392insATGTATATATATACACGTATATATAT ATAT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421049	G G	GTATATAC others(23): Show GTATATACATATATATGTATATATACGTATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0117 a0001c0029t0001g0117	1	384	0.0026	30	c.766 others(49): Show c.766+11366_766+11367insTATACGTATATATACATATATATGTA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421049	G G	GTATATAC others(23): Show GTATATACGTATATATGTATATATACGTATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	384	0.0026	30	c.766 others(49): Show c.766+11337_766+11366dupTATACGTATATATACATATATACGTA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421077	A A	ATATATAT others(23): Show ATATATATACGTATATATATGTATATATACG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19083.hp1 NA18961.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0210 a0001c0001t0001g0228	2	384	0.0052	30	c.766 others(49): Show c.766+11338_766+11339insCGTATATATACATATATATACGTATA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD19_chr16_28926971_28944342	28929885	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	400	0.0025	30	c.-21 others(41): Show c.-2116_-2115insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2085		chr16	TogoVar
CD19_chr16_28926971_28944342	28929891	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	30	c.-21 others(41): Show c.-2110_-2109insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2079		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18988.hp1 HG02040.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0001g0001 a0001c0001t0002g0005	2	400	0.0050	30	c.-21 others(41): Show c.-2108_-2107insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18962.hp1 HG00438.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0001t0001g0001 a0001c0001t0006g0005	2	400	0.0050	30	c.-21 others(41): Show c.-2108_-2107insATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	400	0.0025	30	c.-21 others(41): Show c.-2108_-2107insATATAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	400	0.0025	30	c.-21 others(41): Show c.-2108_-2107insATATATAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	30	c.-21 others(41): Show c.-2108_-2107insATATATATAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD226_chr18_69848274_69952873	69851192	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG01261.hp2 HG02055.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0007 a0004c0005t0100 a0002c0002t0007 a0004c0005t0100	a0002c0002t0007g0153 a0004c0005t0100g0104 a0002c0002t0007g0153 a0004c0005t0100g0104	2	256	0.0078	30	c.13 others(43): Show c.13121_*13122insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding		2081		chr18	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0229 a0001c0001t0021g0230 a0001c0001t0021g0229 a0001c0001t0021g0230	2	322	0.0062	30	c.542 others(47): Show c.542-7740_542-7739insTATATATATATATATATATACACACACA CA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA18939.hp1 others(3): Show HG01256.hp1 HG01258.hp2 NA18939.hp1 NA18985.hp1 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0005g0255	6	322	0.0186	30	c.542 others(47): Show c.542-7740_542-7739insTATATATATATATATATATATACACACA CA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18967.hp2 NA18961.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0225 a0001c0001t0001g0236	2	322	0.0062	30	c.542 others(47): Show c.542-7740_542-7739insTATATATATATATATATATATATACACA CA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589379	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03453.hp1 NA18955.hp1 HG00140.hp1 HG03453.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0085 a0001c0001t0002 a0001c0001t0009 a0001c0001t0085	a0001c0001t0002g0034 a0001c0001t0009g0002 a0001c0001t0085g0147 a0001c0001t0002g0034 a0001c0001t0009g0002 a0001c0001t0085g0147	3	322	0.0093	30	c.110 others(49): Show c.1109-6481_1109-6480insTACACACACACACACACACACACACA CACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589565	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp2 HG02809.hp2 HG00597.hp1 HG02135.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0057 a0001c0001t0004 a0001c0001t0057	a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0057g0288 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0057g0288	3	322	0.0093	30	c.110 others(49): Show c.1109-6295_1109-6294insCACATATATATATATATATATATATA TATA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589565	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02886.hp2 NA18939.hp1 HG01255.hp2 HG02886.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 a0001c0001t0001 a0001c0001t0054 a0001c0001t0055	a0001c0001t0001g0257 a0001c0001t0054g0211 a0001c0001t0055g0098 a0001c0001t0001g0257 a0001c0001t0054g0211 a0001c0001t0055g0098	3	322	0.0093	30	c.110 others(49): Show c.1109-6295_1109-6294insCATATATATATATATATATATATATA TATA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47610971	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0103 a0001c0001t0035g0103	1	322	0.0031	30	c.181 others(49): Show c.1815-1501_1815-1500insATATATATATATATATATATATATAT ATTT	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD300LB_chr17_74516174_74536475	74533641	G G	GAAAAGAA others(23): Show GAAAAGAAAAGGAAAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	406	0.0025	30	c.-22 others(41): Show c.-2292_-2291insTCTCTCTCTCTCTCTCTTTCCTTTTCTTTT	CD300LB	ENSG00000178789.9	transcript	ENST00000392621.6	protein_coding		2167		chr17	TogoVar
CD36_chr7_80633642_80684274	80683073	C C	CTTATATA others(23): Show CTTATATATGTGTATATGTGTATATATACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	392	0.0026	30	c.66 others(41): Show c.6690_*6691insTTATATATGTGTATATGTGTATATATACTT	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3800		chr7	TogoVar
CD38_chr4_15773328_15858232	15802491	G G	GTTTTATT others(23): Show GTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	344	0.0029	30	c.234 others(49): Show c.234-13986_234-13957dupTATTTTATTTTATTTTATTTTATTTT ATTT	CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CD3G_chr11_118339344_118360161	118355729	A A	ATACACAT others(23): Show ATACACATATACACATACATATATGTGTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02630.hp2 others(10): Show HG02109.hp1 HG02145.hp2 HG02630.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0035	a0001c0001t0001g0002 a0001c0001t0006g0002 a0001c0001t0011g0004 others(1): Show a0001c0001t0001g0002 a0001c0001t0006g0002 a0001c0001t0011g0004 a0001c0001t0035g0002	13	442	0.0294	30	c.26 others(41): Show c.2629_*2630insTACACATATACACATACATATATGTGTATC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		569		chr11	TogoVar
CD44_chr11_35134171_35237402	35182004	T T	TATATTTA others(23): Show TATATTTATATATGTATATATAAATATATAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0018 a0001c0004t0004g0018	1	378	0.0027	30	c.367 others(47): Show c.367+1601_367+1602insTTATATATGTATATATAAATATATACAT AT	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD4_chr12_6784528_6825799	6788362	G G	GTTTTCTT others(23): Show GTTTTCTTTTCTTTTCCTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG01891.hp1 others(24): Show HG00738.hp1 HG01261.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03492.hp2 HG03579.hp2 HG04228.hp1 NA19043.hp1 NA19063.hp1 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0009 a0010c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0002t0003 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007 a0003c0009t0004 a0010c0015t0019	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0182 others(23): Show a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0182 a0001c0001t0001g0212 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0034 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0302 a0001c0001t0015g0247 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0205 a0001c0002t0003g0211 a0002c0003t0002g0032 a0002c0003t0005g0033 a0002c0003t0007g0027 a0003c0009t0004g0428 a0010c0015t0019g0255	27	442	0.0611	30	c.-13 others(41): Show c.-1368_-1367insTTTTCTTTTCTTTTCCTTTCTTTTCTTTTC	CD4	ENSG00000010610.10	transcript	ENST00000011653.9	protein_coding		1165		chr12	TogoVar
CD4_chr12_6784528_6825799	6788362	G G	GTTTTCTT others(23): Show GTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	442	0.0045	30	c.-13 others(41): Show c.-1368_-1367insTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	CD4	ENSG00000010610.10	transcript	ENST00000011653.9	protein_coding		1165		chr12	TogoVar
CD53_chr1_110868148_110904922	110887058	G G	GTTTATTT others(23): Show GTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0011 a0001c0001t0001 a0001c0004t0011	a0001c0001t0001g0178 a0001c0004t0011g0177 a0001c0001t0001g0178 a0001c0004t0011g0177	2	442	0.0045	30	c.-17 others(47): Show c.-17-4311_-17-4310insATTTTATTTTATTTTATTTTATTTTATT TT	CD53	ENSG00000143119.14	transcript	ENST00000271324.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD59_chr11_33698010_33741423	33740546	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0155 a0001c0001t0023g0155	1	380	0.0026	30	c.-41 others(41): Show c.-4184_-4183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CD59	ENSG00000085063.18	transcript	ENST00000642928.2	protein_coding		4124		chr11	TogoVar
CD5_chr11_61097489_61132852	61100394	T T	TATCAAAT others(23): Show TATCAAATGGGGATTACACACACATCAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	244	0.0041	30	c.-21 others(41): Show c.-2167_-2166insATCAAATGGGGATTACACACACATCAACCC	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2094		chr11	TogoVar
CD83_chr6_14112772_14141906	14140508	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01256.hp2 others(4): Show HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0002g0121 a0001c0001t0004g0002 others(1): Show a0001c0001t0001g0003 a0001c0001t0002g0121 a0001c0001t0004g0002 a0001c0001t0004g0058	7	438	0.0160	30	c.52 others(41): Show c.5272_*5273insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding		3603		chr6	TogoVar
CD96_chr3_111537197_111657372	111546919	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp2 HG01074.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	300	0.0067	30	c.418 others(47): Show c.418+1545_418+1546insACACACACACACACACACACACACACAC AC	CD96	ENSG00000153283.13	transcript	ENST00000352690.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD99L2_chrX_150761336_150903668	150818201	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01070.hp1 others(2): Show HG00408.hp1 HG00642.hp1 HG01070.hp1 HG02280.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0008 a0001c0001t0002g0013 a0001c0001t0002g0017 others(2): Show a0001c0001t0001g0008 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0004g0011 a0001c0001t0007g0204	5	212	0.0236	30	c.131 others(47): Show c.131-2124_131-2123insATATATATATATATATATATATATATAT AT	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	2/10			chrX	TogoVar
CD99L2_chrX_150761336_150903668	150882742	T T	TAAGGTTA others(23): Show TAAGGTTATATAAACAAAATAAAGATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG01884.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0193 a0001c0001t0001g0115 a0001c0001t0001g0193	2	212	0.0094	30	c.67+ others(47): Show c.67+15779_67+15780insGATATATCTTTATTTTGTTTATATAACC TT	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	1/10			chrX	TogoVar
CD99_chrX_2686295_2746309	2745435	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA19010.hp2 HG03486.hp1 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0003c0008t0004 a0001c0001t0002 a0003c0008t0004	a0001c0001t0002g0183 a0003c0008t0004g0089 a0001c0001t0002g0183 a0003c0008t0004g0089	2	228	0.0088	30	c.46 others(41): Show c.4631_*4632insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding		4127		chrX	TogoVar
CDADC1_chr13_49242925_49298485	49293883	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG02280.hp1 others(1): Show HG01169.hp2 HG01496.hp2 HG02280.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0333 a0001c0001t0002g0340 a0001c0001t0003g0224 others(1): Show a0001c0001t0002g0333 a0001c0001t0002g0340 a0001c0001t0003g0224 a0001c0001t0003g0238	4	368	0.0109	30	c.21 others(41): Show c.2126_*2127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding		399		chr13	TogoVar
CDA_chr1_20584097_20623903	20599617	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00621.hp1 others(44): Show HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02647.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03704.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18947.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19068.hp1 NA19082.hp1 NA19083.hp1 NA19089.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0002c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0033 others(35): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0003g0261 a0001c0001t0003g0286 a0001c0001t0008g0283 a0001c0002t0002g0093 a0001c0002t0004g0200 a0001c0002t0004g0201 a0002c0004t0003g0341	47	418	0.1124	30	c.155 others(47): Show c.155-5306_155-5277dupTAAAATAAAATAAAATAAAATAAAATAA AA	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDA_chr1_20584097_20623903	20608410	T T	TTTTGTTT others(23): Show TTTTGTTTTGTTTTGTTTTGTTTTGTTTTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp2 others(14): Show HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01361.hp1 HG01515.hp2 HG01943.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG03041.hp1 HG03540.hp1 NA18747.hp2 NA18987.hp1 NA19082.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0003 a0001c0001t0001 a0001c0001t0003 a0002c0004t0003	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0038 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0141 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0289 a0002c0004t0003g0328 a0002c0004t0003g0332	17	418	0.0407	30	c.266 others(47): Show c.266+3388_266+3389insTGTTTTGTTTTGCTTTGTTTTGTTTTGT TT	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100412696	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18993.hp2 NA19066.hp2 HG01123.hp2 NA18993.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0002t0001g0058 a0001c0002t0001g0073 a0001c0001t0001g0066 a0001c0002t0001g0058 a0001c0002t0001g0073	3	306	0.0098	30	c.310 others(49): Show c.310-11525_310-11524insTTATATATATATATATATATATATAT ATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100412710	A A	ATATATAT others(23): Show ATATATATATATATTTTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0020 a0001c0007t0003 a0001c0001t0020 a0001c0007t0003	a0001c0001t0020g0122 a0001c0007t0003g0278 a0001c0001t0020g0122 a0001c0007t0003g0278	2	306	0.0065	30	c.310 others(49): Show c.310-11482_310-11453dupTTATATATATATATTTTATATATATA TATT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100420063	C C	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0068 a0001c0002t0022g0068	1	306	0.0033	30	c.310 others(47): Show c.310-4158_310-4157insCACACACATATATATATATATATATATA TA	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC20B_chr5_55107971_55178177	55126466	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp2 HG03927.hp1 others(5): Show HG00408.hp2 HG02080.hp2 HG03927.hp1 NA18947.hp1 NA18966.hp1 NA19000.hp1 NA19003.hp1 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0050 a0002c0002t0002g0163 a0002c0002t0002g0166 others(5): Show a0002c0002t0001g0050 a0002c0002t0002g0163 a0002c0002t0002g0166 a0002c0002t0002g0169 a0002c0002t0002g0172 a0002c0002t0002g0201 a0002c0002t0002g0204 a0002c0002t0002g0209	8	330	0.0242	30	c.989 others(45): Show c.989+790_989+791insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDC20B	ENSG00000164287.13	transcript	ENST00000381375.7	protein_coding	8/11			chr5	TogoVar
CDC20B_chr5_55107971_55178177	55126473	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	330	0.0030	30	c.989 others(45): Show c.989+783_989+784insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDC20B	ENSG00000164287.13	transcript	ENST00000381375.7	protein_coding	8/11			chr5	TogoVar
CDC20B_chr5_55107971_55178177	55126484	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	330	0.0030	30	c.989 others(45): Show c.989+772_989+773insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDC20B	ENSG00000164287.13	transcript	ENST00000381375.7	protein_coding	8/11			chr5	TogoVar
CDC23_chr5_138182650_138218323	138195531	T T	TATATATT others(23): Show TATATATTTATATATAATATAATTATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19070.hp2 NA19084.hp1 NA18993.hp2 NA19070.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0123	3	392	0.0077	30	c.101 others(49): Show c.1012+2638_1012+2667dupTATATATAATTATATTATATATAAAT ATAT	CDC23	ENSG00000094880.11	transcript	ENST00000394886.7	protein_coding	9/15			chr5	TogoVar
CDC42BPA_chr1_226984865_227323492	227100747	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0109 a0001c0008t0009g0109	1	352	0.0028	30	c.224 others(47): Show c.2249+215_2249+244dupACACACACACACACACACACACACACAC AC	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	15/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227129702	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0350 a0001c0008t0065g0350	1	352	0.0028	30	c.139 others(47): Show c.1391-472_1391-471insATATATATATATATATATATATATATAT AT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36			chr1	TogoVar

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