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
EDARADD_chr1_236389286_236489930	236405790	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02273.hp1 HG02683.hp2 others(8): Show HG00558.hp2 HG02273.hp1 HG02683.hp2 HG02698.hp2 HG02886.hp2 HG03688.hp1 NA18944.hp1 NA18979.hp2 NA18998.hp1 NA19007.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0005 a0002c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0112 a0001c0001t0001g0170 others(8): Show a0001c0001t0001g0049 a0001c0001t0001g0112 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0002g0051 a0001c0001t0003g0052 a0001c0001t0004g0002 a0001c0001t0004g0169 a0001c0001t0005g0123 a0001c0004t0005g0161 a0002c0002t0001g0276	11	294	0.0374	13	c.62- others(28): Show c.62-3426_62-3425insCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5			chr1	TogoVar
EDARADD_chr1_236389286_236489930	236431927	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02523.hp1 HG02630.hp2 HG00673.hp1 HG02523.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0002c0002t0001 a0002c0002t0004 a0001c0001t0026 a0002c0002t0001 a0002c0002t0004	a0001c0001t0026g0292 a0002c0002t0001g0261 a0002c0002t0004g0260 a0001c0001t0026g0292 a0002c0002t0001g0261 a0002c0002t0004g0260	3	294	0.0102	13	c.219 others(30): Show c.219+4490_219+4502dupAAAAAAAAAAAAA	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDAR_chr2_108889471_108994220	108932528	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0104 a0001c0014t0003g0104	1	226	0.0044	13	c.-18 others(30): Show c.-18-1509_-18-1497dupTTTTTTTTTTTTT	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
EDDM13_chr19_56267748_56315454	56273466	A A	AAAAAGAC others(6): Show AAAAAGACAGACAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(113): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18985.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19067.hp2 NA19075.hp2 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 others(99): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0005g0106 a0001c0001t0005g0143 a0001c0001t0005g0175 a0001c0001t0006g0101 a0001c0001t0006g0119	116	396	0.2929	13	c.85+ others(26): Show c.85+550_85+551insAGACAGACAGAAA	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(6): Show CTCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(26): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02976.hp1 HG03239.hp1 HG04204.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18963.hp1 NA18968.hp1 NA18980.hp2 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 others(23): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0002g0112 a0001c0001t0002g0147 a0001c0001t0002g0154 a0001c0001t0002g0174	29	396	0.0732	13	c.423 others(28): Show c.423+486_423+487insTCCCTCCCCCCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(6): Show CTCCCTCCCCTCTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19002.hp2 NA19004.hp2 others(2): Show NA18994.hp1 NA19002.hp2 NA19004.hp2 NA19058.hp1 NA19074.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0006 a0001c0001 a0003c0005 a0005c0006	a0001c0001t0001 a0003c0005t0001 a0005c0006t0001 a0001c0001t0001 a0003c0005t0001 a0005c0006t0001	a0001c0001t0001g0064 a0001c0001t0001g0260 a0001c0001t0001g0270 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0260 a0001c0001t0001g0270 a0003c0005t0001g0277 a0005c0006t0001g0097	5	396	0.0126	13	c.423 others(28): Show c.423+486_423+487insTCCCTCCCCTCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EDEM3_chr1_184685237_184759858	184720509	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01081.hp2 others(10): Show HG00140.hp1 HG00639.hp1 HG01081.hp2 HG01106.hp2 HG02809.hp2 HG03195.hp2 HG06807.hp2 NA18955.hp1 NA18961.hp2 NA18963.hp2 NA19043.hp2 NA19068.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0009 a0001c0004 a0007c0009	a0001c0004t0004 a0001c0004t0025 a0007c0009t0024 a0001c0004t0004 a0001c0004t0025 a0007c0009t0024	a0001c0004t0004g0262 a0001c0004t0004g0263 a0001c0004t0004g0264 others(10): Show a0001c0004t0004g0262 a0001c0004t0004g0263 a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0267 a0001c0004t0004g0268 a0001c0004t0004g0271 a0001c0004t0004g0272 a0001c0004t0004g0273 a0001c0004t0004g0276 a0001c0004t0025g0275 a0007c0009t0024g0270	13	324	0.0401	13	c.951 others(28): Show c.951+767_951+779dupAAAAAAAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	84080298	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01256.hp2 HG01258.hp1 others(9): Show HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG02523.hp2 HG02683.hp2 HG03654.hp1 HG03704.hp2 NA18944.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0005t0015	a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0087 others(9): Show a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0002g0018 a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0001t0004g0017 a0003c0005t0015g0026	12	158	0.0760	13	c.652 others(32): Show c.652-13705_652-13693dupTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	158	0.0063	13	c.196 others(30): Show c.196+1578_196+1590dupTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18969.hp2 NA19083.hp1 HG03471.hp2 NA18969.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0019 a0001c0001t0004 a0001c0001t0009 a0001c0001t0019	a0001c0001t0004g0022 a0001c0001t0009g0016 a0001c0001t0019g0155 a0001c0001t0004g0022 a0001c0001t0009g0016 a0001c0001t0019g0155	3	158	0.0190	13	c.68- others(28): Show c.68-8460_68-8448dupAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN1_chr6_12285361_12302194	12294920	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG03486.hp1 HG02647.hp2 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	3	452	0.0066	13	c.533 others(28): Show c.533+524_533+536dupTTTTTTTTTTTTT	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18965.hp1 NA18950.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0106 a0001c0001t0002g0107	2	398	0.0050	13	c.365 others(30): Show c.365+4885_365+4897dupAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EDNRA_chr4_147476097_147549954	147504957	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01952.hp2 others(6): Show HG00140.hp2 HG00735.hp1 HG01952.hp2 HG02717.hp2 HG02738.hp2 HG04199.hp1 NA18993.hp1 NA19007.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0014	a0001c0001t0002g0165 a0001c0001t0006g0229 a0001c0002t0002g0166 others(6): Show a0001c0001t0002g0165 a0001c0001t0006g0229 a0001c0002t0002g0166 a0001c0002t0002g0208 a0001c0002t0004g0214 a0001c0002t0004g0252 a0001c0002t0004g0262 a0001c0002t0007g0223 a0001c0002t0014g0269	9	280	0.0321	13	c.421 others(32): Show c.421-14886_421-14874dupAAAAAAAAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EDNRA_chr4_147476097_147549954	147505327	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG03225.hp2 HG02615.hp1 HG02895.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0193 a0001c0001t0008g0007 a0001c0001t0008g0193	3	280	0.0107	13	c.421 others(32): Show c.421-14508_421-14496dupTTTTTTTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EDNRA_chr4_147476097_147549954	147532325	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03041.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0195 a0001c0002t0009g0005 a0001c0002t0004g0195 a0001c0002t0009g0005	3	280	0.0107	13	c.549 others(28): Show c.549-168_549-156dupAAAAAAAAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEA1_chr12_92765637_92934295	92806931	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02622.hp1 HG02809.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0203 a0002c0004t0015g0213 a0002c0004t0015g0203 a0002c0004t0015g0213	2	244	0.0082	13	c.233 others(32): Show c.2339+2085_2339+2086insAAAAAAAAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	18/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92869752	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0051 a0001c0001t0023g0051	1	244	0.0041	13	c.118 others(30): Show c.118-4778_118-4766dupTTTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEF1A1_chr6_73510750_73526032	73524788	A A	ATATATAT others(6): Show ATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18979.hp2 NA18939.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	424	0.0047	13	c.-38 others(24): Show c.-3820_-3819insAAAAATATATATA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3757		chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73524789	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG00673.hp2 HG02895.hp1 HG02897.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	4	424	0.0094	13	c.-38 others(24): Show c.-3821_-3820insTATATATATATAT	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3758		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20747462	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01070.hp2 others(8): Show HG00323.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG02109.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171	11	348	0.0316	13	c.145 others(30): Show c.145-9670_145-9658dupAAAAAAAAAAAAA	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4			chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20748727	T T	TGTTGTTG others(6): Show TGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	348	0.0029	13	c.144 others(30): Show c.144+8727_144+8728insCAACAACAACAAC	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4			chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20764917	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	348	0.0029	13	c.-19 others(30): Show c.-19-7301_-19-7300insGTGTGTGTGTGTG	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(6): Show CACAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(59): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01106.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01934.hp2 HG01943.hp2 HG02040.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02630.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp2 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18995.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0005t0006 a0002c0002t0001	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 others(59): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0085 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0006g0306 a0001c0001t0015g0171 a0001c0001t0019g0111 a0001c0005t0006g0159 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014	62	358	0.1732	13	c.400 others(30): Show c.400-3611_400-3610insTTTTTTTTTTTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184256272	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01175.hp2 others(7): Show HG00735.hp1 HG01106.hp2 HG01175.hp2 HG01978.hp2 HG02040.hp1 HG02293.hp1 HG02602.hp1 HG03831.hp2 HG04204.hp2 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0042 a0001c0002t0001g0073 a0002c0003t0001g0011 others(2): Show a0001c0002t0001g0042 a0001c0002t0001g0073 a0002c0003t0001g0011 a0002c0003t0001g0025 a0002c0003t0001g0062	10	378	0.0265	13	c.197 others(30): Show c.197-1195_197-1183dupAAAAAAAAAAAAA	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263686	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	378	0.0027	13	c.51 others(24): Show c.5111_*5112insGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4928		chr3	TogoVar
EEF1D_chr8_143574728_143602415	143596412	C C	CCCCACCC others(6): Show CCCCACCCCCAGAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	389	0.0026	13	c.-15 others(28): Show c.-15+923_-15+935dupTTCTGGGGGTGGG	EEF1D	ENSG00000104529.19	transcript	ENST00000618139.4	protein_coding	1/9			chr8	TogoVar
EEF1E1_chr6_8074395_8107548	8099791	C C	CACACACA others(6): Show CACACACACACAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	442	0.0023	13	c.88- others(28): Show c.88-2325_88-2324insTTTGTGTGTGTGT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTCTTTT others(6): Show CTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00741.hp2 others(55): Show HG00423.hp1 HG00558.hp2 HG00741.hp2 HG01099.hp1 HG01255.hp1 HG01258.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02258.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03490.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19030.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19091.hp2 NA20905.hp1	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0011	a0002c0003 a0002c0007 a0003c0004 others(4): Show a0002c0003 a0002c0007 a0003c0004 a0003c0005 a0003c0017 a0010c0015 a0011c0016	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(15): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0013 a0002c0003t0015 a0002c0003t0020 a0002c0003t0028 a0002c0007t0003 a0003c0004t0001 a0003c0004t0008 a0003c0004t0029 a0003c0004t0032 a0003c0005t0031 a0003c0017t0008 a0010c0015t0001 a0011c0016t0003	a0002c0003t0001g0127 a0002c0003t0001g0224 a0002c0003t0001g0225 others(55): Show a0002c0003t0001g0127 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0229 a0002c0003t0001g0234 a0002c0003t0001g0238 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0246 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0254 a0002c0003t0001g0268 a0002c0003t0003g0226 a0002c0003t0003g0245 a0002c0003t0003g0247 a0002c0003t0003g0257 a0002c0003t0003g0262 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0267 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0004g0221 a0002c0003t0004g0227 a0002c0003t0004g0232 a0002c0003t0006g0263 a0002c0003t0007g0223 a0002c0003t0007g0230 a0002c0003t0007g0231 a0002c0003t0013g0233 a0002c0003t0015g0124 a0002c0003t0015g0125 a0002c0003t0020g0259 a0002c0003t0028g0240 a0002c0007t0003g0258 a0003c0004t0001g0126 a0003c0004t0001g0228 a0003c0004t0001g0235 a0003c0004t0008g0033 a0003c0004t0008g0034 a0003c0004t0008g0035 a0003c0004t0008g0036 a0003c0004t0008g0037 a0003c0004t0008g0038 a0003c0004t0008g0219 a0003c0004t0008g0220 a0003c0004t0029g0241 a0003c0004t0032g0256 a0003c0005t0031g0242 a0003c0017t0008g0032 a0010c0015t0001g0253 a0011c0016t0003g0260	58	290	0.2000	13	c.246 others(28): Show c.246+544_246+545insCTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19043.hp1 HG02056.hp1 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0027 a0009c0009t0004 a0001c0001t0027 a0009c0009t0004	a0001c0001t0027g0191 a0009c0009t0004g0200 a0001c0001t0027g0191 a0009c0009t0004g0200	2	290	0.0069	13	c.246 others(28): Show c.246+545_246+557dupTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF2K_chr16_22201278_22293738	22289399	T T	TAAATAAA others(6): Show TAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02809.hp2 HG02895.hp1 others(5): Show HG01167.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG03540.hp2 NA19240.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0002 a0003c0004t0005g0007 a0003c0004t0005g0011 others(5): Show a0003c0004t0005g0002 a0003c0004t0005g0007 a0003c0004t0005g0011 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0015 a0003c0004t0005g0016 a0003c0004t0005g0018	8	290	0.0276	13	c.54 others(24): Show c.5403_*5404insAAATAAATAAATA	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding		662		chr16	TogoVar
EEF2_chr19_3971056_3990463	3978803	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG01891.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0011 a0001c0009t0001 a0001c0001t0011 a0001c0009t0001	a0001c0001t0011g0102 a0001c0009t0001g0103 a0001c0001t0011g0102 a0001c0009t0001g0103	2	403	0.0050	13	c.171 others(30): Show c.1713+513_1713+525dupTTTTTTTTTTTTT	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding	11/14			chr19	TogoVar
EEFSEC_chr3_128148481_128413646	128293660	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01515.hp1 HG01516.hp1 others(4): Show HG00733.hp2 HG01515.hp1 HG01516.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(4): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0018 a0001c0002t0001g0020 a0002c0007t0001g0021	7	272	0.0257	13	c.786 others(32): Show c.786+28894_786+28906dupAAAAAAAAAAAAA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG2_chr1_108555100_108644322	108579796	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG04228.hp2 NA18981.hp2 HG02155.hp2 HG04228.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0124 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0124	3	272	0.0110	13	c.137 others(32): Show c.137+19231_137+19232insGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10			chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0020 a0003c0002t0020	a0003c0002t0020g0057 a0003c0002t0020g0057	1	346	0.0029	13	c.-20 others(24): Show c.-2015_-2014insTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36248994	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03486.hp1 HG03927.hp2 HG00597.hp2 HG03486.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0310 a0001c0001t0008g0221 a0001c0001t0014g0307 a0001c0001t0001g0310 a0001c0001t0008g0221 a0001c0001t0014g0307	3	346	0.0087	13	c.930 others(30): Show c.930+9958_930+9959insCACACACACACAC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7			chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271720	C C	CTTCTAGG others(6): Show CTTCTAGGGTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(177): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0002c0003 a0002c0014 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0004t0006 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0025 a0001c0004t0058 a0001c0006t0002 a0001c0006t0007 a0001c0006t0020 a0001c0008t0011 a0001c0010t0025 a0002c0003t0028 a0002c0003t0060 a0002c0014t0031 a0003c0002t0007 a0003c0002t0017 a0003c0002t0020 a0003c0002t0021 a0003c0002t0026 a0003c0002t0034 a0003c0002t0040 a0003c0002t0062	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0092 others(177): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0001g0323 a0001c0001t0002g0012 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0309 a0001c0001t0002g0322 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0136 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0004g0075 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0223 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0248 a0001c0001t0005g0015 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0047 a0001c0001t0006g0070 a0001c0001t0006g0093 a0001c0001t0006g0212 a0001c0001t0007g0016 a0001c0001t0007g0020 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0028 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0044 a0001c0001t0007g0053 a0001c0001t0008g0126 a0001c0001t0008g0176 a0001c0001t0008g0198 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0009g0320 a0001c0001t0009g0328 a0001c0001t0009g0331 a0001c0001t0010g0105 a0001c0001t0010g0194 a0001c0001t0010g0287 a0001c0001t0012g0185 a0001c0001t0013g0203 a0001c0001t0013g0220 a0001c0001t0013g0235 a0001c0001t0027g0056 a0001c0001t0030g0209 a0001c0001t0030g0219 a0001c0001t0031g0325 a0001c0001t0032g0192 a0001c0001t0033g0065 a0001c0001t0037g0106 a0001c0001t0039g0002 a0001c0001t0042g0037 a0001c0001t0045g0003 a0001c0001t0046g0006 a0001c0001t0047g0008 a0001c0001t0049g0226 a0001c0001t0050g0224 a0001c0001t0051g0260 a0001c0001t0052g0261 a0001c0001t0055g0154 a0001c0001t0056g0076 a0001c0001t0057g0174 a0001c0001t0064g0273 a0001c0001t0068g0305 a0001c0001t0069g0312 a0001c0004t0006g0013 a0001c0004t0006g0258 a0001c0004t0011g0019 a0001c0004t0012g0196 a0001c0004t0012g0324 a0001c0004t0016g0173 a0001c0004t0025g0059 a0001c0004t0058g0314 a0001c0006t0002g0332 a0001c0006t0007g0046 a0001c0006t0020g0045 a0001c0008t0011g0048 a0001c0010t0025g0060 a0002c0003t0028g0007 a0002c0003t0028g0011 a0002c0003t0060g0103 a0002c0014t0031g0064 a0003c0002t0007g0042 a0003c0002t0007g0043 a0003c0002t0007g0055 a0003c0002t0017g0017 a0003c0002t0017g0018 a0003c0002t0017g0035 a0003c0002t0017g0049 a0003c0002t0020g0054 a0003c0002t0020g0057 a0003c0002t0021g0062 a0003c0002t0021g0227 a0003c0002t0021g0249 a0003c0002t0026g0052 a0003c0002t0034g0071 a0003c0002t0034g0142 a0003c0002t0040g0041 a0003c0002t0062g0244	180	346	0.5202	13	c.931 others(30): Show c.931-9395_931-9394insTTCTAGGGTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	428	0.0023	13	c.107 others(28): Show c.107-670_107-669insATATATATATTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0300 a0001c0005t0001g0300	1	428	0.0023	13	c.107 others(28): Show c.107-670_107-669insATATATATATATT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47390910	G G	GTCTTATC others(6): Show GTCTTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0140 a0003c0004t0001g0140	1	356	0.0028	13	c.158 others(30): Show c.1583-524_1583-523insTATCTATCTATCT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47390914	G G	GTCTTATC others(6): Show GTCTTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG03471.hp1 others(5): Show HG00438.hp2 HG00544.hp1 HG03471.hp1 NA18612.hp1 NA18964.hp1 NA18988.hp1 NA19004.hp2 NA19056.hp1	a0003 a0007 a0016 a0003 a0007 a0016	a0003c0004 a0007c0009 a0016c0020 a0003c0004 a0007c0009 a0016c0020	a0003c0004t0002 a0007c0009t0001 a0016c0020t0001 a0003c0004t0002 a0007c0009t0001 a0016c0020t0001	a0003c0004t0002g0217 a0003c0004t0002g0227 a0003c0004t0002g0231 others(5): Show a0003c0004t0002g0217 a0003c0004t0002g0227 a0003c0004t0002g0231 a0003c0004t0002g0237 a0003c0004t0002g0244 a0003c0004t0002g0251 a0007c0009t0001g0221 a0016c0020t0001g0346	8	356	0.0225	13	c.158 others(30): Show c.1583-520_1583-519insTATCTATCTATCT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp2 HG02148.hp2 others(11): Show HG01192.hp1 HG01256.hp2 HG02148.hp2 HG02257.hp1 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp2 HG04204.hp1 NA18981.hp1 NA19007.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0001c0024 others(2): Show a0001c0001 a0001c0015 a0001c0024 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0015t0001 a0001c0024t0001 others(2): Show a0001c0001t0001 a0001c0015t0001 a0001c0024t0001 a0002c0002t0001 a0002c0010t0001	a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 others(11): Show a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0343 a0001c0015t0001g0192 a0001c0024t0001g0191 a0002c0002t0001g0010 a0002c0002t0001g0262 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0010t0001g0265	14	356	0.0393	13	c.249 others(32): Show c.2495-4930_2495-4918dupTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG00738.hp2 others(27): Show HG00597.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01261.hp1 HG01358.hp1 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02148.hp2 HG02258.hp2 HG02683.hp1 HG03540.hp1 HG04228.hp2 NA18950.hp1 NA18984.hp1 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19065.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0089 others(27): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0115 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0004g0055	30	290	0.1035	13	c.25+ others(28): Show c.25+9614_25+9626dupAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30096677	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0098 a0004c0004t0002g0098	1	248	0.0040	13	c.432 others(32): Show c.4321+3742_4321+3743insATATATATTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43614177	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00621.hp1 others(30): Show HG00140.hp2 HG00323.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02004.hp1 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03486.hp1 HG03579.hp1 HG03834.hp1 NA18947.hp1 NA18965.hp1 NA18972.hp2 NA18979.hp2 NA19005.hp1 NA19007.hp1 NA19087.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0010 a0012 a0024 a0027 a0031	a0001c0001 a0001c0023 a0002c0002 others(6): Show a0001c0001 a0001c0023 a0002c0002 a0006c0006 a0010c0011 a0012c0016 a0024c0033 a0027c0030 a0031c0022	a0001c0001t0001 a0001c0023t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0023t0001 a0002c0002t0001 a0006c0006t0001 a0010c0011t0001 a0012c0016t0001 a0012c0016t0006 a0024c0033t0001 a0027c0030t0009 a0031c0022t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 others(30): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0236 a0001c0023t0001g0254 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0133 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0244 a0002c0002t0001g0246 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0010c0011t0001g0113 a0012c0016t0001g0274 a0012c0016t0001g0281 a0012c0016t0006g0266 a0024c0033t0001g0181 a0027c0030t0009g0290 a0031c0022t0001g0237	33	290	0.1138	13	c.256 others(32): Show c.2562+1636_2562+1648dupTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	21/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43656813	G G	GGAGGCTA others(6): Show GGAGGCTATAGCAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(71): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03017.hp2 HG03492.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18984.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0013 a0001c0035 others(4): Show a0001c0001 a0001c0013 a0001c0035 a0001c0046 a0001c0047 a0008c0008 a0008c0029	a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 a0001c0035t0001 a0001c0046t0001 a0001c0047t0001 a0008c0008t0001 a0008c0029t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(71): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0007g0238 a0001c0013t0001g0031 a0001c0035t0001g0235 a0001c0046t0001g0067 a0001c0047t0001g0178 a0008c0008t0001g0026 a0008c0008t0001g0033 a0008c0008t0001g0035 a0008c0008t0001g0036 a0008c0008t0001g0037 a0008c0008t0001g0038 a0008c0008t0001g0202 a0008c0029t0001g0034	74	290	0.2552	13	c.198 others(34): Show c.1983+10290_1983+10291insTTGCTATAGCCTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	17/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43789883	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0075 a0001c0027t0001g0075	1	290	0.0035	13	c.-7- others(28): Show c.-7-7559_-7-7558insGTGTGTGTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32905759	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp1 HG01261.hp2 others(29): Show HG01168.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 NA18961.hp2 NA19043.hp2 NA19062.hp1 NA20805.hp2 NA21309.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0008 a0010 a0012 a0018 a0020 a0024 a0030 a0041 a0048 a0049	a0002c0002 a0002c0011 a0003c0003 others(12): Show a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0008c0007 a0010c0009 a0012c0012 a0018c0026 a0018c0051 a0020c0032 a0024c0024 a0030c0063 a0041c0050 a0048c0058 a0049c0066	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0011t0001 a0003c0003t0001 a0004c0004t0003 a0008c0007t0003 a0008c0007t0006 a0010c0009t0001 a0012c0012t0004 a0018c0026t0003 a0018c0051t0003 a0020c0032t0004 a0024c0024t0005 a0030c0063t0004 a0041c0050t0002 a0048c0058t0002 a0049c0066t0004	a0002c0002t0001g0093 a0002c0002t0001g0128 a0002c0002t0001g0129 others(29): Show a0002c0002t0001g0093 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0221 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0264 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0003g0223 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0011t0001g0100 a0003c0003t0001g0282 a0004c0004t0003g0253 a0008c0007t0003g0280 a0008c0007t0003g0281 a0008c0007t0006g0016 a0010c0009t0001g0248 a0012c0012t0004g0108 a0012c0012t0004g0195 a0018c0026t0003g0226 a0018c0051t0003g0224 a0020c0032t0004g0062 a0020c0032t0004g0277 a0024c0024t0005g0041 a0024c0024t0005g0111 a0030c0063t0004g0081 a0041c0050t0002g0218 a0048c0058t0002g0257 a0049c0066t0004g0107	32	284	0.1127	13	c.108 others(30): Show c.1089-801_1089-789dupAAAAAAAAAAAAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp2 HG03579.hp2 NA18906.hp2	a0002 a0009 a0002 a0009	a0002c0042 a0009c0041 a0002c0042 a0009c0041	a0002c0042t0001 a0009c0041t0001 a0002c0042t0001 a0009c0041t0001	a0002c0042t0001g0198 a0009c0041t0001g0251 a0002c0042t0001g0198 a0009c0041t0001g0251	2	284	0.0070	13	c.279 others(32): Show c.2790+3855_2790+3856insTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935192	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0005 a0023c0028t0005	a0023c0028t0005g0258 a0023c0028t0005g0258	1	284	0.0035	13	c.279 others(32): Show c.2790+3869_2790+3881dupTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHB_chr3_19874472_19939217	19892883	A A	AAATAAAA others(6): Show AAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG01071.hp1 others(58): Show HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01361.hp2 HG01516.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp1 NA18940.hp2 NA18947.hp1 NA18947.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA19003.hp1 NA19006.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0010 a0012 a0013 a0015 a0019 a0020 a0023 a0024 a0026	a0001c0001 a0002c0002 a0002c0019 others(13): Show a0001c0001 a0002c0002 a0002c0019 a0003c0004 a0004c0005 a0004c0035 a0005c0006 a0010c0013 a0012c0014 a0013c0015 a0015c0017 a0019c0030 a0020c0031 a0023c0034 a0024c0036 a0026c0032	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(15): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0019t0001 a0003c0004t0001 a0004c0005t0001 a0004c0035t0001 a0005c0006t0001 a0010c0013t0001 a0010c0013t0002 a0012c0014t0001 a0013c0015t0002 a0015c0017t0001 a0019c0030t0001 a0020c0031t0001 a0023c0034t0001 a0024c0036t0001 a0026c0032t0001	a0001c0001t0002g0218 a0001c0001t0002g0260 a0002c0002t0001g0093 others(57): Show a0001c0001t0002g0218 a0001c0001t0002g0260 a0002c0002t0001g0093 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0121 a0002c0002t0002g0290 a0002c0019t0001g0031 a0003c0004t0001g0135 a0004c0005t0001g0128 a0004c0005t0001g0129 a0004c0005t0001g0130 a0004c0005t0001g0133 a0004c0005t0001g0139 a0004c0005t0001g0140 a0004c0005t0001g0143 a0004c0005t0001g0144 a0004c0005t0001g0145 a0004c0005t0001g0146 a0004c0005t0001g0147 a0004c0005t0001g0150 a0004c0005t0001g0152 a0004c0005t0001g0153 a0004c0005t0001g0156 a0004c0005t0001g0158 a0004c0005t0001g0160 a0004c0005t0001g0161 a0004c0005t0001g0168 a0004c0005t0001g0170 a0004c0035t0001g0141 a0005c0006t0001g0067 a0005c0006t0001g0068 a0005c0006t0001g0089 a0005c0006t0001g0098 a0005c0006t0001g0099 a0005c0006t0001g0114 a0005c0006t0001g0115 a0005c0006t0001g0123 a0010c0013t0001g0062 a0010c0013t0002g0217 a0010c0013t0002g0243 a0010c0013t0002g0261 a0010c0013t0002g0289 a0012c0014t0001g0066 a0012c0014t0001g0069 a0012c0014t0001g0070 a0012c0014t0001g0071 a0013c0015t0002g0017 a0013c0015t0002g0324 a0015c0017t0001g0090 a0015c0017t0001g0091 a0015c0017t0001g0119 a0019c0030t0001g0112 a0020c0031t0001g0126 a0023c0034t0001g0149 a0024c0036t0001g0131 a0026c0032t0001g0127	61	344	0.1773	13	c.172 others(32): Show c.1725+3803_1725+3804insATTTTATTTTATT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar

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