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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SOX5_chr12_23524504_23954670	23715292	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18942.hp2 HG04184.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0029 a0001c0001t0017 a0001c0001t0029	a0001c0001t0017g0028 a0001c0001t0029g0143 a0001c0001t0017g0028 a0001c0001t0029g0143	2	212	0.0094	25	c.810 others(44): Show c.810+19367_810+19391dupATTTTATTTTATTTTATTTTATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16130738	A A	ATTTAGGT others(18): Show ATTTAGGTATTAGGATGGTATTGGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	218	0.0046	25	c.778 others(44): Show c.778-18840_778-18816dupAACCAATACCATCCTAATACCTAAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02129.hp2 HG02451.hp2 others(1): Show HG01106.hp1 HG02129.hp2 HG02451.hp2 HG03471.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0015 a0001c0001 a0002c0005 a0004c0015	a0001c0001t0004 a0002c0005t0013 a0004c0015t0004 a0001c0001t0004 a0002c0005t0013 a0004c0015t0004	a0001c0001t0004g0049 a0001c0001t0004g0175 a0002c0005t0013g0105 others(1): Show a0001c0001t0004g0049 a0001c0001t0004g0175 a0002c0005t0013g0105 a0004c0015t0004g0153	4	290	0.0138	25	c.164 others(42): Show c.1646-937_1646-913dupGAGGAGAGGAGAGGAGAGGAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497529	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0138 a0001c0003t0003g0138	1	290	0.0035	25	c.164 others(42): Show c.1646-928_1646-927insAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19055.hp2 HG04184.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0055 a0001c0001t0003g0028 a0001c0001t0003g0055	2	290	0.0069	25	c.164 others(42): Show c.1646-923_1646-922insAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03239.hp1 HG02148.hp2 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0076 a0003c0004t0003g0113 a0001c0001t0003g0076 a0003c0004t0003g0113	2	290	0.0069	25	c.164 others(42): Show c.1646-918_1646-917insAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp2 HG03491.hp2 HG00140.hp1 HG01884.hp2 HG03491.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0004 a0004c0006t0004 a0001c0001t0004 a0004c0006t0004	a0001c0001t0004g0271 a0004c0006t0004g0181 a0004c0006t0004g0237 a0001c0001t0004g0271 a0004c0006t0004g0181 a0004c0006t0004g0237	3	290	0.0103	25	c.164 others(42): Show c.1646-867_1646-843dupAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230548366	T T	TATCCAGA others(18): Show TATCCAGAGTACTTGGGAGCTTGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	290	0.0035	25	c.54 others(36): Show c.5420_*5421insATCCAGAGTACTTGGGAGCTTGAAG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		2761		chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01346.hp2 HG01993.hp2 others(4): Show HG01167.hp2 HG01346.hp2 HG01993.hp2 HG02559.hp2 NA18965.hp1 NA18979.hp2 NA19067.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0022 others(1): Show a0001c0001 a0002c0002 a0002c0022 a0003c0003	a0001c0001t0001 a0002c0002t0005 a0002c0022t0001 others(1): Show a0001c0001t0001 a0002c0002t0005 a0002c0022t0001 a0003c0003t0001	a0001c0001t0001g0071 a0001c0001t0001g0132 a0001c0001t0001g0138 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0132 a0001c0001t0001g0138 a0002c0002t0005g0180 a0002c0022t0001g0159 a0003c0003t0001g0148 a0003c0003t0001g0149	7	336	0.0208	25	c.108 others(42): Show c.108-2908_108-2907insAAAGAAAGAAAAGAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	131	0.0076	25	c.23 others(36): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01346.hp1 HG01978.hp2 others(7): Show HG00544.hp1 HG01346.hp1 HG01978.hp2 HG02155.hp1 NA18955.hp2 NA18965.hp2 NA18978.hp1 NA18985.hp2 NA19077.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0143 a0007c0007t0001g0068	10	205	0.0488	25	c.23 others(36): Show c.2386_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448786	C C	CCCCTTCC others(18): Show CCCCTTCCCTTCCCTTCCCTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG03710.hp2 NA18965.hp1 others(3): Show HG00558.hp1 HG03710.hp2 NA18965.hp1 NA18973.hp1 NA18974.hp1 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0107 a0002c0002t0001g0003 a0002c0002t0001g0107	6	205	0.0293	25	c.19 others(36): Show c.1926_*1927insAAGGGAAGGGAAGGGAAGGGAAGGG	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		1816		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19000.hp2 HG01496.hp1 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0045 a0003c0003t0001g0029 a0003c0003t0001g0045	2	86	0.0233	25	c.121 others(44): Show c.1214+6637_1214+6638insAAATATATATATATATATATACGTA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214031598	T T	TAATAAAA others(18): Show TAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0042 a0003c0003t0002g0042	1	86	0.0116	25	c.152 others(46): Show c.1527+17523_1527+17547dupATAAAATAAAATAAAATAAAATAA A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01261.hp2 HG02683.hp2 others(11): Show HG00438.hp2 HG01261.hp2 HG02683.hp2 HG03139.hp2 HG03654.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18992.hp1 NA18997.hp1 NA19062.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0004 a0003c0018 a0004c0006 others(1): Show a0003c0004 a0003c0018 a0004c0006 a0009c0017	a0003c0004t0001 a0003c0018t0001 a0004c0006t0001 others(1): Show a0003c0004t0001 a0003c0018t0001 a0004c0006t0001 a0009c0017t0001	a0003c0004t0001g0052 a0003c0004t0001g0053 a0003c0004t0001g0054 others(11): Show a0003c0004t0001g0052 a0003c0004t0001g0053 a0003c0004t0001g0054 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0061 a0003c0004t0001g0063 a0003c0018t0001g0062 a0004c0006t0001g0057 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0006t0001g0060 a0004c0006t0001g0343 a0009c0017t0001g0249	14	366	0.0383	25	c.300 others(42): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA19012.hp1 NA18984.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	320	0.0063	25	c.-58 others(34): Show c.-580_-579insAAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	25	c.-58 others(34): Show c.-580_-579insGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	330	0.0030	25	c.-18 others(36): Show c.-1805_-1804insATATATATATTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp2 others(5): Show HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01884.hp2 HG02109.hp1 HG02486.hp1 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0070 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0070	8	330	0.0242	25	c.-18 others(36): Show c.-1805_-1804insATATATATATATTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	330	0.0030	25	c.-18 others(36): Show c.-1805_-1804insATATATATATATATTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01243.hp1 HG00741.hp1 HG01074.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0002g0213 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0002g0213	3	292	0.0103	25	c.741 others(42): Show c.741+3809_741+3810insTATATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	342	0.0029	25	c.416 others(42): Show c.416-3715_416-3714insATATATTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATATAA others(18): Show TCATATAACATATGATACATAATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	356	0.0028	25	c.-11 others(46): Show c.-112+29237_-112+29238insCATATAACATATGATACATAATAT A	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATATAA others(18): Show TCATATAACATATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 NA20752.hp2 HG00733.hp2 HG01261.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0015 a0001c0009t0010 a0001c0001t0002 a0001c0001t0015 a0001c0009t0010	a0001c0001t0002g0190 a0001c0001t0015g0250 a0001c0009t0010g0288 a0001c0001t0002g0190 a0001c0001t0015g0250 a0001c0009t0010g0288	3	356	0.0084	25	c.-11 others(46): Show c.-112+29237_-112+29238insCATATAACATATGATATATAATAT A	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TTATTATA others(18): Show TTATTATATAACATAATAATAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03516.hp1 others(1): Show HG02258.hp2 HG03098.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0021 a0001c0002t0082 a0001c0005t0044 others(1): Show a0001c0002t0021 a0001c0002t0082 a0001c0005t0044 a0001c0005t0107	a0001c0002t0021g0356 a0001c0002t0082g0061 a0001c0005t0044g0014 others(1): Show a0001c0002t0021g0356 a0001c0002t0082g0061 a0001c0005t0044g0014 a0001c0005t0107g0015	4	356	0.0112	25	c.-11 others(46): Show c.-112+29251_-112+29252insATAATAATATATATTATATAACAT A	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA17_chr1_217626344_217876696	217770978	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA20300.hp1 HG02148.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0034 a0001c0001t0001 a0001c0004t0034	a0001c0001t0001g0173 a0001c0004t0034g0251 a0001c0001t0001g0173 a0001c0004t0034g0251	2	252	0.0079	25	c.520 others(42): Show c.520-3350_520-3326dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	420	0.0024	25	c.329 others(42): Show c.329+3603_329+3627dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp2 HG01361.hp2 others(30): Show HG00280.hp1 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02257.hp1 HG02300.hp1 HG02486.hp2 HG02896.hp1 HG03710.hp1 HG06807.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18979.hp1 NA18982.hp2 NA18993.hp2 NA18995.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19060.hp2 NA19064.hp1 NA19076.hp2 NA19081.hp2 NA19090.hp2	a0001 a0003 a0007 others(5): Show a0001 a0003 a0007 a0008 a0011 a0017 a0026 a0032	a0001c0001 a0001c0026 a0003c0005 others(6): Show a0001c0001 a0001c0026 a0003c0005 a0007c0007 a0008c0010 a0011c0013 a0017c0017 a0026c0028 a0032c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0033 a0001c0026t0001 a0003c0005t0004 a0007c0007t0001 a0008c0010t0001 a0011c0013t0002 a0017c0017t0017 a0026c0028t0001 a0032c0038t0001	a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0073 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0002g0002 a0001c0001t0006g0002 a0001c0001t0033g0002 a0001c0026t0001g0002 a0003c0005t0004g0045 a0007c0007t0001g0002 a0008c0010t0001g0002 a0011c0013t0002g0053 a0017c0017t0017g0002 a0026c0028t0001g0002 a0032c0038t0001g0002	33	360	0.0917	25	c.293 others(38): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	122992956	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	262	0.0038	25	c.186 others(46): Show c.1869+13570_1869+13571insGTGTGTGTGTGTGTGTGTGTGTGT G	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			chr4	TogoVar
SPATA5_chr4_122918078_123324433	123095042	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	262	0.0038	25	c.234 others(44): Show c.2340+4338_2340+4339insAAATATATATATATATATATATATA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS1_chr6_44337650_44385179	44369880	C C	CATAAAAT others(18): Show CATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02895.hp2 others(7): Show HG02109.hp2 HG02559.hp1 HG02895.hp2 HG02976.hp2 HG03209.hp1 HG06807.hp2 NA18906.hp2 NA18984.hp1 NA18993.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0004 a0001c0001t0009 a0001c0001t0047 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0047 a0001c0004t0004 a0003c0006t0004	a0001c0001t0004g0021 a0001c0001t0009g0060 a0001c0001t0009g0191 others(5): Show a0001c0001t0004g0021 a0001c0001t0009g0060 a0001c0001t0009g0191 a0001c0001t0047g0128 a0001c0004t0004g0297 a0001c0004t0004g0298 a0001c0004t0004g0304 a0003c0006t0004g0035	10	392	0.0255	25	c.696 others(40): Show c.696-163_696-139dupAAAATAAAATAAAATAAAATAAAAT	SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0143 a0001c0001t0017g0143	1	300	0.0033	25	c.39+ others(40): Show c.39+6751_39+6752insAAAAAAAAAAAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18984.hp2 HG03130.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0043 a0001c0001t0003 a0001c0001t0043	a0001c0001t0003g0003 a0001c0001t0043g0277 a0001c0001t0003g0003 a0001c0001t0043g0277	2	300	0.0067	25	c.39+ others(40): Show c.39+6751_39+6752insAAAAAAAAAAATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0289 a0001c0001t0007g0289	1	300	0.0033	25	c.39+ others(40): Show c.39+6751_39+6752insAAAAAAATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	300	0.0033	25	c.39+ others(40): Show c.39+6751_39+6752insAAAAATATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0275	1	300	0.0033	25	c.39+ others(40): Show c.39+6751_39+6752insAAATATATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468379	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	300	0.0033	25	c.957 others(40): Show c.957+980_957+981insACACACACACACACACACACACACA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12			chr2	TogoVar
SPATS2_chr12_49362462_49532425	49378261	G G	GTTTATTT others(18): Show GTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	158	0.0063	25	c.-24 others(44): Show c.-244+6993_-244+7017dupTTATTTTATTTTATTTTATTTTATT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00642.hp1 others(49): Show HG00558.hp1 HG00609.hp2 HG00642.hp1 HG01074.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp2 HG02132.hp2 HG02135.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG03688.hp2 HG04115.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18982.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA19002.hp1 NA19011.hp1 NA19055.hp1 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0017 a0001c0001t0029 others(22): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0029 a0001c0001t0033 a0001c0001t0045 a0001c0001t0066 a0001c0001t0076 a0001c0001t0087 a0001c0001t0088 a0001c0001t0094 a0001c0001t0115 a0001c0001t0121 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0148 a0001c0001t0154 a0001c0001t0156 a0001c0001t0158 a0001c0001t0161 a0001c0001t0162 a0001c0001t0170 a0001c0001t0174 a0001c0001t0197 a0003c0003t0017	a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0029 others(38): Show a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0115 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0263 a0001c0001t0017g0032 a0001c0001t0017g0171 a0001c0001t0029g0196 a0001c0001t0029g0232 a0001c0001t0033g0272 a0001c0001t0033g0275 a0001c0001t0045g0095 a0001c0001t0045g0112 a0001c0001t0066g0311 a0001c0001t0076g0052 a0001c0001t0087g0219 a0001c0001t0088g0199 a0001c0001t0094g0258 a0001c0001t0115g0285 a0001c0001t0121g0282 a0001c0001t0138g0084 a0001c0001t0139g0070 a0001c0001t0140g0072 a0001c0001t0148g0125 a0001c0001t0154g0100 a0001c0001t0156g0139 a0001c0001t0158g0117 a0001c0001t0161g0101 a0001c0001t0162g0102 a0001c0001t0170g0105 a0001c0001t0174g0121 a0001c0001t0197g0181 a0003c0003t0017g0175	52	438	0.1187	25	c.71 others(34): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPC25_chr2_168865891_168895430	168887421	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	360	0.0028	25	c.199 others(42): Show c.199+1804_199+1805insTTTTTTTTTTTTTTTTTTTTTTTTT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 NA19070.hp1 HG01891.hp1 HG02723.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0211 a0001c0001t0006g0286 a0001c0002t0001g0055 a0001c0001t0001g0211 a0001c0001t0006g0286 a0001c0002t0001g0055	3	378	0.0079	25	c.114 others(42): Show c.114+6452_114+6453insTATATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp2 HG02723.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0079 a0003c0003t0002g0080	2	255	0.0078	25	c.380 others(40): Show c.380-266_380-265insCAACAACAACAACAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02630.hp1 HG03540.hp2 HG01175.hp2 HG02630.hp1 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069	3	255	0.0118	25	c.380 others(40): Show c.380-266_380-265insCAACAACAACAAAAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547841	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0036 a0005c0004t0004g0036	1	164	0.0061	25	c.-38 others(36): Show c.-3869_-3868insAAAGAAAGAAAGAAAGAAAGAAAGA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3384		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547867	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAAAGAAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0002 a0010c0013t0002	a0010c0013t0002g0120 a0010c0013t0002g0120	1	164	0.0061	25	c.-38 others(36): Show c.-3843_-3842insAAGAAAGAAAGAAAGAAAGAAAGAT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3358		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02004.hp1 HG02300.hp2 others(2): Show HG01099.hp1 HG02004.hp1 HG02300.hp2 HG03041.hp1 NA19057.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0011 a0003c0003 a0007c0011	a0003c0003t0003 a0007c0011t0003 a0003c0003t0003 a0007c0011t0003	a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0129 others(1): Show a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0129 a0007c0011t0003g0156	5	439	0.0114	25	c.-36 others(36): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	326	0.0031	25	c.-38 others(44): Show c.-38+11817_-38+11841dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(18): Show ATTATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	250	0.0040	25	c.284 others(42): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG02074.hp2 others(9): Show HG01358.hp2 HG01496.hp1 HG02074.hp2 HG02109.hp2 HG02273.hp2 HG02523.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG04204.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0001c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0078 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0078 a0001c0001t0082 a0001c0001t0083 a0001c0001t0087 a0001c0006t0022 a0001c0008t0088 a0001c0008t0089 a0001c0008t0104 a0001c0011t0006	a0001c0001t0002g0115 a0001c0001t0002g0200 a0001c0001t0004g0165 others(9): Show a0001c0001t0002g0115 a0001c0001t0002g0200 a0001c0001t0004g0165 a0001c0001t0078g0116 a0001c0001t0082g0153 a0001c0001t0083g0167 a0001c0001t0087g0134 a0001c0006t0022g0068 a0001c0008t0088g0124 a0001c0008t0089g0140 a0001c0008t0104g0104 a0001c0011t0006g0135	12	250	0.0480	25	c.259 others(44): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35713781	A A	ATATATTA others(18): Show ATATATTATAATATAGTATTAGTAGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0225 a0003c0004t0001g0225	1	268	0.0037	25	c.291 others(42): Show c.2914+900_2914+901insTATAATATAGTATTAGTAGTTATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar

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