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
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(7): Show TATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02523.hp1 HG02040.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0137 a0001c0002t0003g0028 a0001c0002t0003g0137	2	342	0.0059	14	c.-55 others(25): Show c.-5540_-5539insGTGTATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01981.hp2 others(5): Show HG01256.hp1 HG01258.hp2 HG01981.hp2 NA18522.hp2 NA18994.hp2 NA19058.hp2 NA19087.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 a0001c0001t0001 a0001c0001t0008 a0001c0001t0029	a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0008g0017 a0001c0001t0029g0012	8	272	0.0294	14	c.137 others(33): Show c.137+19218_137+19231dupGAGAGAGAGAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(7): Show TGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01361.hp2 others(18): Show HG01070.hp1 HG01074.hp1 HG01361.hp2 HG01934.hp2 HG02015.hp2 HG02145.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03195.hp1 NA18747.hp1 NA18944.hp2 NA18971.hp1 NA18981.hp1 NA18987.hp1 NA18995.hp2 NA18999.hp1 NA19063.hp1 NA19080.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(15): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0185 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0004g0202 a0001c0001t0007g0183 a0001c0001t0010g0177 a0001c0001t0015g0089	21	272	0.0772	14	c.137 others(33): Show c.137+19208_137+19209insTGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGAG others(7): Show TGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01884.hp2 others(23): Show HG01069.hp2 HG01071.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp2 HG02717.hp1 HG02976.hp2 HG03491.hp1 HG03831.hp2 NA18940.hp1 NA18943.hp2 NA18953.hp2 NA18967.hp1 NA18975.hp2 NA18977.hp2 NA18994.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0037 a0001c0001t0040	a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0209 others(22): Show a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0004g0192 a0001c0001t0004g0207 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0007g0004 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0037g0184 a0001c0001t0040g0210	26	272	0.0956	14	c.137 others(33): Show c.137+19208_137+19209insTGTGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(7): Show TGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	272	0.0037	14	c.137 others(33): Show c.137+19208_137+19209insTGTGTGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(7): Show TGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	272	0.0037	14	c.137 others(33): Show c.137+19208_137+19209insTGTGTGTGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	346	0.0029	14	c.-20 others(25): Show c.-2015_-2014insTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36219804	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG02074.hp2 others(3): Show HG00323.hp1 HG01192.hp1 HG02074.hp2 HG02132.hp2 HG03688.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0089 a0001c0001t0001g0179 a0001c0001t0001g0250 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0179 a0001c0001t0001g0250 a0001c0001t0001g0323 a0001c0001t0003g0333 a0001c0001t0005g0038	6	346	0.0173	14	c.879 others(33): Show c.879-19180_879-19179insTGTGTGTGTGTGTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36219806	A A	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0342 a0001c0004t0011g0342	1	346	0.0029	14	c.879 others(33): Show c.879-19178_879-19177insAGAGTGTGTGTGTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36219806	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG03486.hp2 others(3): Show HG02970.hp1 HG03453.hp1 HG03486.hp2 NA19002.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0009 a0001c0001t0032 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0032 a0001c0001t0068 a0001c0004t0016	a0001c0001t0002g0131 a0001c0001t0009g0313 a0001c0001t0009g0315 others(3): Show a0001c0001t0002g0131 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0032g0192 a0001c0001t0068g0305 a0001c0004t0016g0173	6	346	0.0173	14	c.879 others(33): Show c.879-19158_879-19145dupGTGTGTGTGTGTGT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36248994	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01192.hp1 others(25): Show HG00642.hp2 HG00738.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp2 HG02165.hp1 HG02523.hp1 HG02683.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03704.hp1 HG04115.hp1 NA18944.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18979.hp1 NA19065.hp2 NA19067.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0032 a0001c0001t0045 a0001c0001t0048 a0001c0001t0053 a0001c0001t0069 a0001c0004t0016 a0002c0003t0043	a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 others(25): Show a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0211 a0001c0001t0001g0259 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0002g0084 a0001c0001t0003g0337 a0001c0001t0005g0021 a0001c0001t0005g0025 a0001c0001t0005g0039 a0001c0001t0008g0236 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0010g0194 a0001c0001t0010g0285 a0001c0001t0032g0192 a0001c0001t0045g0003 a0001c0001t0048g0063 a0001c0001t0053g0282 a0001c0001t0069g0312 a0001c0004t0016g0173 a0002c0003t0043g0022	28	346	0.0809	14	c.930 others(31): Show c.930+9986_930+9999dupCACACACACACACA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01255.hp2 HG01261.hp1 others(8): Show HG00673.hp1 HG01255.hp2 HG01261.hp1 HG01891.hp1 HG02027.hp2 HG02258.hp2 HG02717.hp2 HG03453.hp2 NA18942.hp1 NA19089.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0033 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0002t0027 a0001c0003t0016 a0001c0004t0001 a0001c0006t0014 a0002c0005t0006	a0001c0001t0002g0029 a0001c0001t0008g0177 a0001c0001t0033g0050 others(8): Show a0001c0001t0002g0029 a0001c0001t0008g0177 a0001c0001t0033g0050 a0001c0002t0001g0215 a0001c0002t0003g0065 a0001c0002t0019g0221 a0001c0002t0027g0170 a0001c0003t0016g0024 a0001c0004t0001g0278 a0001c0006t0014g0264 a0002c0005t0006g0259	11	284	0.0387	14	c.411 others(33): Show c.411-38275_411-38262dupACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01515.hp1 HG02630.hp1 others(13): Show HG00438.hp2 HG01515.hp1 HG02630.hp1 HG02886.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG04184.hp1 NA18945.hp2 NA18955.hp1 NA18970.hp1 NA18983.hp2 NA19001.hp1 NA19010.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0002c0005t0002	a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0125 others(13): Show a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0125 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0003g0075 a0001c0001t0005g0053 a0001c0001t0005g0080 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0134 a0001c0001t0008g0175 a0001c0001t0011g0131 a0002c0005t0002g0258	16	284	0.0563	14	c.410 others(33): Show c.410+50075_410+50088dupATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47325923	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02738.hp2 HG02922.hp1 others(7): Show HG01123.hp2 HG02738.hp2 HG02922.hp1 HG03654.hp2 NA18942.hp1 NA19003.hp1 NA19009.hp2 NA19065.hp2 NA19070.hp1 NA21309.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0011	a0001c0001 a0003c0004 a0005c0005 others(2): Show a0001c0001 a0003c0004 a0005c0005 a0007c0009 a0011c0027	a0001c0001t0001 a0003c0004t0002 a0005c0005t0001 others(2): Show a0001c0001t0001 a0003c0004t0002 a0005c0005t0001 a0007c0009t0002 a0011c0027t0001	a0001c0001t0001g0174 a0001c0001t0001g0345 a0003c0004t0002g0109 others(7): Show a0001c0001t0001g0174 a0001c0001t0001g0345 a0003c0004t0002g0109 a0003c0004t0002g0232 a0003c0004t0002g0233 a0003c0004t0002g0235 a0003c0004t0002g0253 a0005c0005t0001g0274 a0007c0009t0002g0234 a0011c0027t0001g0121	10	356	0.0281	14	c.-24 others(31): Show c.-247-277_-247-264dupTATATATATATATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351279	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02135.hp2 HG02738.hp1 others(7): Show HG02109.hp1 HG02135.hp2 HG02738.hp1 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03486.hp2 NA18956.hp2 NA18982.hp1 NA18997.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0006c0007 others(1): Show a0001c0001 a0002c0002 a0006c0007 a0008c0011	a0001c0001t0001 a0002c0002t0001 a0006c0007t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0006c0007t0001 a0006c0007t0010 a0008c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0138 a0001c0001t0001g0142 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0179 a0002c0002t0001g0009 a0006c0007t0001g0060 a0006c0007t0010g0061 a0008c0011t0001g0050	10	356	0.0281	14	c.661 others(31): Show c.661+3341_661+3354dupTGTGTGTGTGTGTG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0054 a0008c0011t0001g0054	1	356	0.0028	14	c.661 others(31): Show c.661+3354_661+3355insTGTGTGTGTGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47390325	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01109.hp1 others(40): Show HG00280.hp2 HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG03130.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18944.hp2 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18998.hp1 NA18999.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA20300.hp1 NA21309.hp1	a0003 a0004 a0017 a0003 a0004 a0017	a0003c0004 a0003c0008 a0003c0016 others(2): Show a0003c0004 a0003c0008 a0003c0016 a0004c0003 a0017c0021	a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 others(3): Show a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 a0004c0003t0001 a0004c0003t0006 a0017c0021t0006	a0003c0004t0002g0109 a0003c0004t0002g0247 a0003c0008t0003g0276 others(37): Show a0003c0004t0002g0109 a0003c0004t0002g0247 a0003c0008t0003g0276 a0003c0016t0002g0223 a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0039 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0042 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0046 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0065 a0004c0003t0001g0066 a0004c0003t0001g0067 a0004c0003t0006g0260 a0017c0021t0006g0261	43	356	0.1208	14	c.158 others(33): Show c.1583-1105_1583-1092dupACACACACACACAC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01099.hp1 others(29): Show HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG02027.hp1 HG02135.hp2 HG02615.hp1 HG02976.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03927.hp1 HG04228.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18957.hp2 NA18963.hp1 NA18977.hp1 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA19043.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19089.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0022 a0001c0023 others(4): Show a0001c0001 a0001c0022 a0001c0023 a0001c0025 a0002c0002 a0002c0010 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 a0001c0023t0002 a0001c0025t0001 a0002c0002t0001 a0002c0010t0001 a0006c0007t0001	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0113 others(29): Show a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0254 a0001c0001t0001g0277 a0001c0001t0002g0215 a0001c0022t0001g0194 a0001c0023t0002g0228 a0001c0025t0001g0144 a0002c0002t0001g0266 a0002c0002t0001g0348 a0002c0010t0001g0267 a0002c0010t0001g0270 a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0064 a0006c0007t0001g0341	32	356	0.0899	14	c.249 others(33): Show c.2495-4931_2495-4918dupTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46700986	A A	AGTGAGTG others(7): Show AGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0107 a0001c0001t0008g0107	1	374	0.0027	14	c.481 others(31): Show c.481-4338_481-4337insACACACACACTCAC	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	3/10			chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02040.hp1 HG02647.hp2 others(6): Show HG00621.hp2 HG02040.hp1 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 NA18962.hp2 NA18992.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(6): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0003g0025 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0079	9	290	0.0310	14	c.25+ others(29): Show c.25+9613_25+9626dupAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245078452	A A	AAACAAAA others(7): Show AAACAAAAGGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(269): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0005g0157 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0007g0242 a0001c0001t0009g0231 a0001c0001t0010g0236 a0001c0001t0011g0278 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0195 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0289 a0001c0002t0004g0034 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0055 a0001c0002t0004g0064 a0001c0002t0004g0066 a0001c0002t0004g0073 a0001c0002t0004g0113 a0002c0003t0001g0251	272	290	0.9379	14	c.184 others(31): Show c.184-3631_184-3630insAACAAAAGGTGTGT	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	4/7			chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245088315	G G	GACACACA others(7): Show GACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02683.hp1 HG03516.hp2 others(7): Show HG02027.hp2 HG02683.hp1 HG03516.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp2 NA18961.hp1 NA18993.hp1 NA19065.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0151 a0001c0001t0001g0277 a0001c0001t0003g0002 others(7): Show a0001c0001t0001g0151 a0001c0001t0001g0277 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0071 a0001c0001t0003g0076	10	290	0.0345	14	c.95 others(23): Show c.955_*956insACACACACACACAC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding		479		chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62382347	T T	TATATGTA others(7): Show TATATGTATAATTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02896.hp2 others(4): Show HG02055.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0003t0001g0024	7	368	0.0190	14	c.-17 others(29): Show c.-17-607_-17-606insATTTGATATGTATA	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29952128	A A	AAAATGTT others(7): Show AAAATGTTCAAGGAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	248	0.0040	14	c.190 others(31): Show c.190+8480_190+8481insAATGTTCAAGGACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29970663	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp2 HG03209.hp1 others(1): Show HG02486.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0132 a0003c0003t0002g0137 a0003c0003t0002g0138 others(1): Show a0003c0003t0002g0132 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139	4	248	0.0161	14	c.767 others(31): Show c.767+1301_767+1302insCACACACATACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29970667	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp1 HG02615.hp2 HG03471.hp1	a0002 a0006 a0002 a0006	a0002c0020 a0006c0008 a0002c0020 a0006c0008	a0002c0020t0002 a0006c0008t0002 a0002c0020t0002 a0006c0008t0002	a0002c0020t0002g0019 a0006c0008t0002g0018 a0002c0020t0002g0019 a0006c0008t0002g0018	2	248	0.0081	14	c.767 others(31): Show c.767+1301_767+1302insCACACACACACATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994133	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	248	0.0040	14	c.924 others(29): Show c.924+843_924+856dupATATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994167	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 homoSapiens_chm13v2.hp1 HG01256.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0223	2	248	0.0081	14	c.924 others(29): Show c.924+856_924+857insATACATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096677	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	248	0.0040	14	c.432 others(33): Show c.4321+3742_4321+3743insATATATTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03491.hp2 HG03492.hp1 HG02809.hp1 HG03491.hp2 HG03492.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0017 a0002c0002 a0014c0017	a0002c0002t0001 a0014c0017t0001 a0002c0002t0001 a0014c0017t0001	a0002c0002t0001g0129 a0014c0017t0001g0282 a0014c0017t0001g0283 a0002c0002t0001g0129 a0014c0017t0001g0282 a0014c0017t0001g0283	3	290	0.0103	14	c.303 others(33): Show c.3032+3720_3032+3733dupAAAAAAAAAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43599509	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	290	0.0035	14	c.287 others(31): Show c.2876+546_2876+559dupTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	23/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43614177	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01243.hp2 others(31): Show HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG02109.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG04228.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA19000.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0013 a0014 a0022	a0001c0001 a0001c0027 a0002c0002 others(6): Show a0001c0001 a0001c0027 a0002c0002 a0006c0006 a0007c0007 a0007c0014 a0013c0018 a0014c0017 a0022c0039	a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 a0002c0002t0001 a0006c0006t0001 a0007c0007t0001 a0007c0007t0002 a0007c0014t0002 a0007c0014t0005 a0013c0018t0001 a0014c0017t0001 a0022c0039t0001	a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 others(31): Show a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0256 a0001c0001t0001g0285 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0027t0001g0075 a0002c0002t0001g0245 a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0270 a0006c0006t0001g0272 a0006c0006t0001g0276 a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0159 a0007c0007t0001g0160 a0007c0007t0002g0004 a0007c0007t0002g0005 a0007c0014t0002g0016 a0007c0014t0002g0018 a0007c0014t0005g0014 a0013c0018t0001g0092 a0014c0017t0001g0282 a0014c0017t0001g0283 a0022c0039t0001g0091	34	290	0.1172	14	c.256 others(33): Show c.2562+1635_2562+1648dupTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	21/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43678329	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG00642.hp1 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0066 a0001c0001t0001g0024 a0001c0001t0001g0066	2	290	0.0069	14	c.125 others(31): Show c.1252-180_1252-167dupCACACACACACACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	12/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43689349	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(7): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG01884.hp2 HG02280.hp1 HG02630.hp2 HG02683.hp2 HG03579.hp1 NA19030.hp1 NA20905.hp1	a0004 a0009 a0027 a0004 a0009 a0027	a0004c0005 a0009c0010 a0027c0030 a0004c0005 a0009c0010 a0027c0030	a0004c0005t0001 a0009c0010t0001 a0027c0030t0009 a0004c0005t0001 a0009c0010t0001 a0027c0030t0009	a0004c0005t0001g0162 a0004c0005t0001g0172 a0004c0005t0001g0173 others(7): Show a0004c0005t0001g0162 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0175 a0009c0010t0001g0148 a0009c0010t0001g0149 a0009c0010t0001g0150 a0009c0010t0001g0151 a0027c0030t0009g0290	10	290	0.0345	14	c.103 others(33): Show c.1032-1782_1032-1769dupTGTGTGTGTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	10/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784541	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0217	1	290	0.0035	14	c.-7- others(29): Show c.-7-2217_-7-2216insTATATACACACACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784543	G G	GTATATAT others(7): Show GTATATATACACATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19007.hp2 HG02074.hp1 NA19007.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0088 a0004c0005t0001g0089 a0004c0005t0001g0088 a0004c0005t0001g0089	2	290	0.0069	14	c.-7- others(29): Show c.-7-2219_-7-2218insTATGTGTATATATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784664	C C	CATATATA others(7): Show CATATATATGTGTAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0165 a0004c0005t0001g0165	1	290	0.0035	14	c.-7- others(29): Show c.-7-2340_-7-2339insATACACATATATAT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43789847	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03041.hp2 HG03942.hp2 HG03017.hp1 HG03041.hp2 HG03942.hp2	a0001 a0003 a0024 a0001 a0003 a0024	a0001c0001 a0003c0003 a0024c0033 a0001c0001 a0003c0003 a0024c0033	a0001c0001t0001 a0003c0003t0001 a0024c0033t0001 a0001c0001t0001 a0003c0003t0001 a0024c0033t0001	a0001c0001t0001g0256 a0003c0003t0001g0232 a0024c0033t0001g0181 a0001c0001t0001g0256 a0003c0003t0001g0232 a0024c0033t0001g0181	3	290	0.0103	14	c.-7- others(29): Show c.-7-7536_-7-7523dupTGTGTGTGTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43789847	T T	TCACTCAC others(7): Show TCACTCACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	290	0.0035	14	c.-7- others(29): Show c.-7-7523_-7-7522insTGTGTGTGTGAGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43799329	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02717.hp1 HG01099.hp1 HG02717.hp1	a0002 a0030 a0002 a0030	a0002c0002 a0030c0032 a0002c0002 a0030c0032	a0002c0002t0001 a0030c0032t0001 a0002c0002t0001 a0030c0032t0001	a0002c0002t0001g0139 a0030c0032t0001g0126 a0002c0002t0001g0139 a0030c0032t0001g0126	2	290	0.0069	14	c.-8+ others(29): Show c.-8+9652_-8+9665dupTGTGTGTGTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562449	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18939.hp2 HG03927.hp1 NA18939.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0170 a0003c0005t0001g0196 a0001c0001t0001g0170 a0003c0005t0001g0196	2	374	0.0054	14	c.149 others(31): Show c.1497+625_1497+638dupTATATATATATATA	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32905759	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00733.hp1 others(60): Show HG00323.hp1 HG00639.hp1 HG00733.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18979.hp1 NA18986.hp1 NA18992.hp1 NA18997.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19081.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0008 a0010 a0012 a0014 a0015 a0016 a0017 a0021 a0022 a0023 a0025 a0028 a0034 a0037 a0038 a0039 a0042 a0043 a0050	a0002c0002 a0002c0022 a0003c0003 others(23): Show a0002c0002 a0002c0022 a0003c0003 a0005c0013 a0005c0033 a0005c0034 a0006c0005 a0008c0007 a0010c0009 a0012c0012 a0014c0014 a0015c0019 a0016c0018 a0017c0017 a0021c0062 a0022c0031 a0023c0028 a0025c0025 a0028c0021 a0034c0040 a0037c0057 a0038c0047 a0039c0048 a0042c0043 a0043c0045 a0050c0068	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(27): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0022t0002 a0003c0003t0001 a0003c0003t0002 a0005c0013t0002 a0005c0033t0008 a0005c0034t0002 a0006c0005t0006 a0008c0007t0006 a0010c0009t0005 a0012c0012t0004 a0014c0014t0002 a0015c0019t0005 a0016c0018t0004 a0016c0018t0005 a0017c0017t0007 a0021c0062t0001 a0022c0031t0002 a0023c0028t0002 a0025c0025t0002 a0028c0021t0002 a0034c0040t0002 a0037c0057t0004 a0038c0047t0002 a0039c0048t0002 a0042c0043t0001 a0043c0045t0007 a0050c0068t0004	a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 others(60): Show a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0028 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0002g0110 a0002c0002t0002g0134 a0002c0002t0003g0262 a0002c0002t0003g0265 a0002c0002t0003g0275 a0002c0022t0002g0008 a0002c0022t0002g0015 a0003c0003t0001g0274 a0003c0003t0001g0279 a0003c0003t0002g0005 a0003c0003t0002g0021 a0003c0003t0002g0136 a0005c0013t0002g0024 a0005c0033t0008g0113 a0005c0034t0002g0031 a0006c0005t0006g0020 a0008c0007t0006g0013 a0008c0007t0006g0044 a0010c0009t0005g0007 a0012c0012t0004g0094 a0012c0012t0004g0109 a0014c0014t0002g0014 a0014c0014t0002g0042 a0015c0019t0005g0231 a0016c0018t0004g0147 a0016c0018t0004g0192 a0016c0018t0005g0229 a0017c0017t0007g0227 a0017c0017t0007g0228 a0021c0062t0001g0072 a0022c0031t0002g0196 a0023c0028t0002g0018 a0025c0025t0002g0019 a0028c0021t0002g0011 a0028c0021t0002g0037 a0034c0040t0002g0259 a0037c0057t0004g0249 a0038c0047t0002g0035 a0039c0048t0002g0032 a0042c0043t0001g0184 a0043c0045t0007g0133 a0050c0068t0004g0216	63	284	0.2218	14	c.108 others(31): Show c.1089-802_1089-789dupAAAAAAAAAAAAAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939201	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0085 a0004c0004t0003g0085	1	284	0.0035	14	c.279 others(33): Show c.2791-4433_2791-4432insTTTCTTTCTTTCTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939203	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	284	0.0035	14	c.279 others(33): Show c.2791-4433_2791-4432insTTTCTTTCTTTCTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26			chr20	TogoVar
EFCAB9_chr5_172189172_172208454	172195183	A A	AATAAATA others(7): Show AATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	408	0.0025	14	c.136 others(29): Show c.136+876_136+877insTAAATAAATAAATA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02572.hp2 others(3): Show HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG03017.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0110 a0001c0001t0001g0199 a0001c0001t0002g0281 others(3): Show a0001c0001t0001g0110 a0001c0001t0001g0199 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0007g0041	6	350	0.0171	14	c.18 others(25): Show c.1884_*1885insATATATATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55873066	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG01257.hp2 others(9): Show HG00323.hp2 HG00673.hp2 HG01257.hp2 HG01258.hp1 HG02165.hp1 HG02965.hp1 HG03486.hp1 HG03942.hp1 NA18946.hp1 NA18979.hp1 NA18989.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0013 a0001c0001t0001g0119 a0001c0001t0001g0126 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0002g0280 a0001c0003t0002g0293	12	350	0.0343	14	c.100 others(33): Show c.1000+1866_1000+1879dupTGTGTGTGTGTGTG	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55875333	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	350	0.0029	14	c.881 others(29): Show c.881-269_881-268insGTGTGTGTGTGTGT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	8/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55875365	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG03017.hp1 others(11): Show HG00544.hp2 HG00597.hp1 HG03017.hp1 HG03942.hp2 NA18939.hp2 NA18951.hp2 NA18961.hp1 NA18972.hp1 NA18978.hp2 NA18999.hp1 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0091 a0001c0001t0005g0074 a0001c0001t0005g0075 others(10): Show a0001c0001t0001g0091 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0118 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0007g0012 a0001c0001t0007g0041 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046	14	350	0.0400	14	c.881 others(29): Show c.881-301_881-300insATGTGTGTGTGTGT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	8/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55904966	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20300.hp2 HG02258.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0279 a0001c0003t0006g0061 a0001c0001t0002g0279 a0001c0003t0006g0061	2	350	0.0057	14	c.517 others(33): Show c.517+12698_517+12699insAAAAAAAAAAAAAA	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11			chr2	TogoVar

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