Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ELP2_chr18_36124899_36185557	36171049	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG02818.hp2 HG02922.hp1 others(1): Show HG02630.hp2 HG02818.hp2 HG02922.hp1 HG03471.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0009 a0006c0005t0027 a0006c0005t0009 a0006c0005t0027	a0006c0005t0009g0267 a0006c0005t0009g0270 a0006c0005t0009g0273 others(1): Show a0006c0005t0009g0267 a0006c0005t0009g0270 a0006c0005t0009g0273 a0006c0005t0027g0278	4	378	0.0106	0	c.221 others(4): Show c.2213A>G	p.Tyr others(6): Show p.Tyr738Cys	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	21/22	2248/8432	2213/2481	738/826		chr18	TogoVar
ELP3_chr8_28088139_28196153	28158553	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00558.hp2 HG03471.hp2 others(9): Show HG00544.hp1 HG00558.hp2 HG03471.hp2 HG04184.hp2 NA18944.hp2 NA18955.hp2 NA18960.hp2 NA18975.hp2 NA18993.hp2 NA19005.hp2 NA19060.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019	a0001c0001t0003g0024 a0001c0001t0004g0019 a0001c0001t0004g0020 others(7): Show a0001c0001t0003g0024 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0263 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0295 a0001c0001t0004g0304 a0001c0001t0019g0291	12	398	0.0302	1	c.119 others(7): Show c.1192-6dupT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	11/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28191151	A A	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(76): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18954.hp2 NA18961.hp2 NA18970.hp1 NA18977.hp1 NA19055.hp2 NA19086.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0022 others(70): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0177 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0203 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0238 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0012g0358 a0001c0001t0013g0361 a0001c0001t0015g0338 a0001c0001t0020g0138	79	398	0.1985	0	c.14 others(5): Show c.1426A>C		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	15/15					chr8	TogoVar
ELP4_chr11_31504767_31795324	31632409	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(258): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0007 a0004c0005 a0005c0006 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045 a0001c0008t0002 a0002c0003t0001 a0002c0003t0004 a0002c0003t0082 a0003c0007t0001 a0004c0005t0009 a0005c0006t0032 a0006c0004t0076	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0002g0015 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0003g0103 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0004g0001 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0004g0133 a0001c0001t0004g0257 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0021 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0061 a0001c0001t0005g0067 a0001c0001t0005g0131 a0001c0001t0005g0142 a0001c0001t0005g0191 a0001c0001t0005g0203 a0001c0001t0005g0264 a0001c0001t0006g0163 a0001c0001t0006g0170 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0234 a0001c0001t0007g0014 a0001c0001t0007g0045 a0001c0001t0007g0054 a0001c0001t0007g0072 a0001c0001t0007g0081 a0001c0001t0007g0089 a0001c0001t0007g0158 a0001c0001t0008g0092 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0008g0216 a0001c0001t0008g0218 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0009g0180 a0001c0001t0009g0187 a0001c0001t0009g0195 a0001c0001t0009g0198 a0001c0001t0009g0240 a0001c0001t0010g0009 a0001c0001t0010g0110 a0001c0001t0010g0122 a0001c0001t0010g0132 a0001c0001t0010g0145 a0001c0001t0011g0104 a0001c0001t0011g0189 a0001c0001t0011g0197 a0001c0001t0012g0023 a0001c0001t0012g0035 a0001c0001t0012g0038 a0001c0001t0012g0136 a0001c0001t0013g0149 a0001c0001t0013g0154 a0001c0001t0013g0156 a0001c0001t0015g0119 a0001c0001t0015g0146 a0001c0001t0015g0162 a0001c0001t0016g0168 a0001c0001t0016g0171 a0001c0001t0016g0236 a0001c0001t0017g0007 a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0018g0013 a0001c0001t0018g0031 a0001c0001t0018g0205 a0001c0001t0019g0084 a0001c0001t0019g0095 a0001c0001t0020g0228 a0001c0001t0020g0241 a0001c0001t0020g0242 a0001c0001t0021g0107 a0001c0001t0021g0112 a0001c0001t0022g0101 a0001c0001t0022g0259 a0001c0001t0023g0121 a0001c0001t0023g0160 a0001c0001t0025g0155 a0001c0001t0025g0224 a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0028g0201 a0001c0001t0028g0204 a0001c0001t0029g0164 a0001c0001t0029g0165 a0001c0001t0031g0125 a0001c0001t0033g0060 a0001c0001t0034g0238 a0001c0001t0035g0108 a0001c0001t0036g0090 a0001c0001t0037g0147 a0001c0001t0038g0053 a0001c0001t0039g0212 a0001c0001t0040g0059 a0001c0001t0041g0129 a0001c0001t0042g0157 a0001c0001t0043g0153 a0001c0001t0046g0172 a0001c0001t0047g0176 a0001c0001t0048g0215 a0001c0001t0049g0262 a0001c0001t0050g0235 a0001c0001t0051g0134 a0001c0001t0052g0267 a0001c0001t0053g0049 a0001c0001t0054g0140 a0001c0001t0055g0083 a0001c0001t0056g0111 a0001c0001t0057g0087 a0001c0001t0059g0182 a0001c0001t0060g0202 a0001c0001t0061g0086 a0001c0001t0062g0265 a0001c0001t0063g0047 a0001c0001t0064g0239 a0001c0001t0065g0030 a0001c0001t0066g0141 a0001c0001t0067g0161 a0001c0001t0068g0039 a0001c0001t0069g0080 a0001c0001t0070g0219 a0001c0001t0071g0024 a0001c0001t0072g0159 a0001c0001t0073g0237 a0001c0001t0074g0169 a0001c0001t0075g0217 a0001c0001t0077g0008 a0001c0001t0078g0099 a0001c0001t0079g0249 a0001c0001t0080g0250 a0001c0001t0081g0223 a0001c0001t0083g0105 a0001c0002t0014g0097 a0001c0002t0014g0246 a0001c0002t0014g0256 a0001c0002t0024g0244 a0001c0002t0024g0248 a0001c0002t0044g0226 a0001c0002t0045g0245 a0001c0008t0002g0113 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0004g0022 a0002c0003t0082g0207 a0003c0007t0001g0225 a0004c0005t0009g0188 a0005c0006t0032g0253 a0006c0004t0076g0063	261	270	0.9667	0	c.927 others(5): Show c.927+4C>A		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	7/9					chr11	TogoVar
ELP5_chr17_7247215_7264937	7253002	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0036 a0005c0008t0014g0036	1	412	0.0024	0	c.188 others(5): Show c.188+4A>C		ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	3/7					chr17	TogoVar
ELP5_chr17_7247215_7264937	7258811	CCTTTGTA others(4): Show CCTTTGTACCTA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	412	0.0024	-11	c.688 others(23): Show c.688-13_688-3delTTTGTACCTAC		ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	6/7				INFO_REALIGN_3_PRIME	chr17	TogoVar
ELP5_chr17_7247215_7264937	7258827	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0036 a0005c0008t0014g0036	1	412	0.0024	0	c.689 others(3): Show c.689T>C	p.Val others(6): Show p.Val230Ala	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	7/8	1025/1491	689/903	230/300		chr17	TogoVar
ELP5_chr17_7247215_7264937	7259931	TAAA TAAA	T T	splice_region_variant splice_region_variant	LOW	HG01993.hp2 HG02074.hp2 NA18951.hp2 HG01993.hp2 HG02074.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0003 a0001c0001t0013g0047 a0001c0001t0006g0003 a0001c0001t0013g0047	3	412	0.0073	-3	c.25 others(12): Show c.250_*252delAAA		ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	8/8				INFO_REALIGN_3_PRIME	chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	48014172	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02015.hp2 HG02015.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0281 a0016c0019t0001g0281	1	388	0.0026	0	c.72G others(2): Show c.72G>A	p.Gly others(5): Show p.Gly24Gly	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	3/7	269/1079	72/672	24/223		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48014173	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0281 a0016c0019t0001g0281	1	388	0.0026	0	c.73A others(2): Show c.73A>T	p.Met others(5): Show p.Met25Leu	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	3/7	270/1079	73/672	25/223		chr19	TogoVar
EMB_chr5_50391192_50446288	50396192	T T	C C	splice_region_variant splice_region_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0097 a0001c0001t0021g0097	1	346	0.0029	0	c.30 others(5): Show c.3081A>G		EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	9/9					chr5	TogoVar
EMB_chr5_50391192_50446288	50410965	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0260 a0005c0008t0001g0260	1	346	0.0029	0	c.384 others(3): Show c.384G>T	p.Arg others(6): Show p.Arg128Ser	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	4/9	521/4202	384/984	128/327		chr5	TogoVar
EMC10_chr19_50471507_50495871	50480576	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0063 a0001c0001t0050g0063	1	352	0.0028	0	c.403 others(5): Show c.403-5C>G		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	4/6					chr19	TogoVar
EMC10_chr19_50471507_50495871	50480576	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG01943.hp2 HG02055.hp1 others(15): Show HG01891.hp2 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0056 a0001c0002t0057 others(13): Show a0001c0002t0027 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0002t0061 a0001c0002t0074 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0097 a0001c0002t0101 a0001c0002t0116 a0001c0002t0117 a0001c0002t0120 a0001c0002t0169	a0001c0002t0027g0011 a0001c0002t0056g0068 a0001c0002t0057g0015 others(13): Show a0001c0002t0027g0011 a0001c0002t0056g0068 a0001c0002t0057g0015 a0001c0002t0058g0015 a0001c0002t0060g0015 a0001c0002t0061g0032 a0001c0002t0074g0027 a0001c0002t0089g0043 a0001c0002t0090g0010 a0001c0002t0091g0010 a0001c0002t0097g0010 a0001c0002t0101g0010 a0001c0002t0116g0029 a0001c0002t0117g0030 a0001c0002t0120g0031 a0001c0002t0169g0028	18	352	0.0511	0	c.403 others(5): Show c.403-5C>T		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	4/6					chr19	TogoVar
EMC1_chr1_19210660_19256524	19231253	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0198 a0008c0020t0002g0198	1	350	0.0029	0	c.194 others(6): Show c.1944+8C>T		EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	16/22					chr1	TogoVar
EMC1_chr1_19210660_19256524	19235124	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG02155.hp2 HG02165.hp1 others(8): Show HG00735.hp1 HG02155.hp2 HG02165.hp1 HG02683.hp2 HG02698.hp2 HG03654.hp2 HG04199.hp2 NA18612.hp1 NA18941.hp2 NA18945.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0013 a0003c0003t0026 a0003c0003t0009 a0003c0003t0013 a0003c0003t0026	a0003c0003t0009g0017 a0003c0003t0009g0233 a0003c0003t0009g0236 others(6): Show a0003c0003t0009g0017 a0003c0003t0009g0233 a0003c0003t0009g0236 a0003c0003t0009g0239 a0003c0003t0009g0242 a0003c0003t0013g0106 a0003c0003t0013g0234 a0003c0003t0013g0237 a0003c0003t0026g0235	11	350	0.0314	0	c.143 others(6): Show c.1432+6A>G		EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	13/22					chr1	TogoVar
EMC1_chr1_19210660_19256524	19242478	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(224): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0012 a0013	a0001c0001 a0001c0006 a0001c0015 others(13): Show a0001c0001 a0001c0006 a0001c0015 a0001c0017 a0002c0002 a0003c0003 a0003c0007 a0004c0005 a0004c0009 a0004c0022 a0005c0008 a0005c0011 a0006c0010 a0008c0020 a0012c0014 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0006t0001 a0001c0006t0003 a0001c0006t0025 a0001c0015t0020 a0001c0017t0002 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0009 a0003c0003t0010 a0003c0003t0013 a0003c0003t0017 a0003c0003t0026 a0003c0007t0007 a0004c0005t0002 a0004c0005t0008 a0004c0005t0022 a0004c0005t0023 a0004c0009t0002 a0004c0022t0002 a0005c0008t0007 a0005c0008t0011 a0005c0011t0001 a0006c0010t0003 a0006c0010t0008 a0008c0020t0002 a0012c0014t0002 a0013c0016t0001	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 others(166): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0168 a0001c0001t0001g0254 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0229 a0001c0001t0003g0123 a0001c0001t0003g0195 a0001c0001t0004g0062 a0001c0001t0005g0006 a0001c0001t0005g0036 a0001c0001t0005g0041 a0001c0001t0005g0088 a0001c0001t0005g0129 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0008g0057 a0001c0001t0008g0111 a0001c0001t0008g0126 a0001c0001t0008g0167 a0001c0001t0008g0193 a0001c0001t0008g0197 a0001c0001t0010g0035 a0001c0001t0010g0075 a0001c0001t0010g0132 a0001c0001t0010g0134 a0001c0001t0014g0112 a0001c0001t0014g0121 a0001c0001t0015g0074 a0001c0001t0015g0194 a0001c0001t0016g0027 a0001c0001t0021g0096 a0001c0001t0024g0138 a0001c0001t0029g0047 a0001c0006t0001g0067 a0001c0006t0001g0068 a0001c0006t0001g0089 a0001c0006t0003g0021 a0001c0006t0003g0069 a0001c0006t0003g0070 a0001c0006t0003g0090 a0001c0006t0003g0092 a0001c0006t0025g0091 a0001c0015t0020g0124 a0001c0017t0002g0108 a0002c0002t0003g0228 a0003c0003t0001g0015 a0003c0003t0001g0243 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0222 a0003c0003t0002g0246 a0003c0003t0003g0010 a0003c0003t0003g0064 a0003c0003t0004g0009 a0003c0003t0004g0040 a0003c0003t0004g0063 a0003c0003t0004g0071 a0003c0003t0004g0174 a0003c0003t0004g0223 a0003c0003t0004g0227 a0003c0003t0004g0232 a0003c0003t0006g0245 a0003c0003t0006g0252 a0003c0003t0009g0017 a0003c0003t0009g0233 a0003c0003t0009g0236 a0003c0003t0009g0239 a0003c0003t0009g0242 a0003c0003t0010g0244 a0003c0003t0013g0106 a0003c0003t0013g0234 a0003c0003t0013g0237 a0003c0003t0017g0093 a0003c0003t0017g0169 a0003c0003t0026g0235 a0003c0007t0007g0008 a0003c0007t0007g0044 a0003c0007t0007g0045 a0003c0007t0007g0052 a0003c0007t0007g0084 a0003c0007t0007g0249 a0004c0005t0002g0019 a0004c0005t0002g0033 a0004c0005t0002g0083 a0004c0005t0002g0176 a0004c0005t0002g0178 a0004c0005t0002g0179 a0004c0005t0002g0224 a0004c0005t0002g0241 a0004c0005t0008g0175 a0004c0005t0022g0177 a0004c0005t0023g0225 a0004c0009t0002g0034 a0004c0009t0002g0171 a0004c0009t0002g0226 a0004c0022t0002g0200 a0005c0008t0007g0219 a0005c0008t0011g0014 a0005c0008t0011g0042 a0005c0011t0001g0066 a0005c0011t0001g0087 a0006c0010t0003g0165 a0006c0010t0003g0220 a0006c0010t0008g0218 a0008c0020t0002g0198 a0012c0014t0002g0120 a0013c0016t0001g0051	227	350	0.6486	0	c.381 others(5): Show c.381-5T>C		EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	4/22					chr1	TogoVar
EMC2_chr8_108438624_108494196	108479008	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02970.hp2 HG03041.hp2 NA20129.hp1 HG02970.hp2 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086	3	364	0.0082	0	c.705 others(3): Show c.705G>A	p.Ser others(6): Show p.Ser235Ser	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	10/11	740/3527	705/894	235/297		chr8	TogoVar
EMC2_chr8_108438624_108494196	108486488	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(129): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18973.hp1 NA18975.hp2 NA18976.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0004g0050 a0001c0001t0005g0031 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0187 a0001c0001t0008g0241 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0244 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0017g0155 a0001c0001t0021g0213 a0001c0001t0025g0205 a0001c0001t0027g0240	132	364	0.3626	1	c.808 others(6): Show c.808-7dupT		EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	10/10				INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108486488	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00738.hp1 HG01070.hp1 others(50): Show HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02027.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp1 NA18522.hp2 NA18979.hp2 NA19030.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023	a0001c0001t0002g0129 a0001c0001t0002g0143 a0001c0001t0003g0074 others(42): Show a0001c0001t0002g0129 a0001c0001t0002g0143 a0001c0001t0003g0074 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0004g0250 a0001c0001t0005g0043 a0001c0001t0005g0275 a0001c0001t0006g0012 a0001c0001t0006g0159 a0001c0001t0006g0171 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0011g0011 a0001c0001t0014g0184 a0001c0001t0016g0048 a0001c0001t0016g0049 a0001c0001t0017g0027 a0001c0001t0019g0029 a0001c0001t0020g0164 a0001c0001t0023g0237	53	364	0.1456	2	c.808 others(13): Show c.808-8_808-7dupTT		EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	10/10				INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108486488	C C	CTTT CTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(164): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18976.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0003 a0002c0003t0018 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(124): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0005g0163 a0001c0001t0007g0020 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0009g0007 a0001c0001t0009g0053 a0001c0001t0012g0017 a0001c0001t0012g0054 a0001c0001t0013g0003 a0001c0001t0014g0185 a0001c0001t0015g0040 a0001c0001t0018g0055 a0001c0001t0022g0045 a0001c0001t0024g0060 a0001c0001t0026g0079 a0001c0001t0028g0261 a0001c0001t0029g0003 a0001c0001t0030g0257 a0001c0001t0031g0118 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086 a0002c0003t0018g0056 a0003c0004t0002g0135	167	364	0.4588	3	c.808 others(14): Show c.808-9_808-7dupTTT		EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	10/10				INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC4_chr15_34220016_34235156	34228422	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	362	0.0028	0	c.356 others(5): Show c.356-7G>A		EMC4	ENSG00000128463.13	transcript	ENST00000267750.9	protein_coding	3/4					chr15	TogoVar
EMC8_chr16_85773624_85804544	85781203	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01106.hp1 HG01256.hp1 others(11): Show HG00735.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02273.hp1 HG02273.hp2 HG03471.hp1 NA18985.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0061 others(4): Show a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0132 a0001c0001t0023g0063 a0001c0001t0023g0079	14	408	0.0343	0	c.378 others(5): Show c.378+8G>A		EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding	3/4					chr16	TogoVar
EMCN_chr4_100390341_100523022	100398380	G G	GCAA GCAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG00735.hp2 HG00738.hp2 others(63): Show HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01975.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18955.hp1 NA18973.hp1 NA18979.hp2 NA19001.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19083.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0003c0003 others(1): Show a0001c0001 a0001c0008 a0003c0003 a0005c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0008t0005 a0003c0003t0002 a0003c0003t0036 a0005c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0122 a0001c0001t0002g0127 others(62): Show a0001c0001t0002g0003 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0244 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0011g0109 a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0012g0180 a0001c0001t0012g0238 a0001c0001t0013g0008 a0001c0001t0013g0009 a0001c0001t0013g0246 a0001c0001t0015g0022 a0001c0001t0015g0115 a0001c0001t0027g0247 a0001c0001t0028g0175 a0001c0001t0029g0159 a0001c0001t0030g0190 a0001c0008t0005g0197 a0003c0003t0002g0172 a0003c0003t0036g0160 a0005c0007t0002g0209	66	262	0.2519	3	c.40 others(15): Show c.40-10_*40-8dupTTG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	11/11					chr4	TogoVar
EMCN_chr4_100390341_100523022	100398380	G G	GCAACAA GCAACAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG02027.hp2 HG02132.hp1 HG00597.hp1 HG02027.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227	3	262	0.0115	6	c.40 others(18): Show c.40-13_*40-8dupTTGTTG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	11/11					chr4	TogoVar
EMCN_chr4_100390341_100523022	100410282	G G	A A	splice_region_variant splice_region_variant	LOW	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0123 a0002c0002t0037g0123	1	262	0.0038	0	c.39 others(3): Show c.39C>T		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	11/12					chr4	TogoVar
EMD_chrX_154374295_154386523	154380219	G G	GC GC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp1 HG03669.hp1 NA18944.hp1 others(1): Show HG03516.hp1 HG03669.hp1 NA18944.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0004g0004 a0001c0001t0006g0004 a0001c0001t0001g0004 a0001c0001t0004g0004 a0001c0001t0006g0004	4	284	0.0141	1	c.266 others(6): Show c.266-9dupC		EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding	3/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
EME1_chr17_50368229_50386483	50373276	A A	C C	splice_region_variant splice_region_variant	LOW	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0005 a0006c0006t0009g0005	1	384	0.0026	0	c.-26 others(3): Show c.-26A>C		EME1	ENSG00000154920.15	transcript	ENST00000338165.9	protein_coding	1/9					chr17	TogoVar
EME1_chr17_50368229_50386483	50379575	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG02055.hp2 HG02258.hp2 others(4): Show HG00741.hp2 HG02055.hp2 HG02258.hp2 HG02698.hp1 HG02809.hp2 HG03453.hp1 HG03579.hp2	a0008 a0016 a0008 a0016	a0008c0008 a0016c0014 a0008c0008 a0016c0014	a0008c0008t0002 a0016c0014t0002 a0008c0008t0002 a0016c0014t0002	a0008c0008t0002g0010 a0016c0014t0002g0010 a0008c0008t0002g0010 a0016c0014t0002g0010	7	384	0.0182	0	c.134 others(6): Show c.1346+8A>G		EME1	ENSG00000154920.15	transcript	ENST00000338165.9	protein_coding	7/8					chr17	TogoVar
EME2_chr16_1767810_1786702	1775688	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp1 NA18952.hp1 NA18956.hp2 others(4): Show NA18945.hp1 NA18952.hp1 NA18956.hp2 NA18975.hp2 NA18990.hp1 NA18997.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0007 a0001c0001t0004g0007 a0001c0001t0003g0007 a0001c0001t0004g0007	7	430	0.0163	0	c.779 others(5): Show c.779+4C>T		EME2	ENSG00000197774.14	transcript	ENST00000568449.7	protein_coding	6/7					chr16	TogoVar
EME2_chr16_1767810_1786702	1775992	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0120 a0001c0002t0120	a0001c0002t0120g0031 a0001c0002t0120g0031	1	430	0.0023	0	c.969 others(5): Show c.969+6C>T		EME2	ENSG00000197774.14	transcript	ENST00000568449.7	protein_coding	7/7					chr16	TogoVar
EMID1_chr22_29200896_29264597	29206147	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG01099.hp2 HG02148.hp1 others(4): Show HG00099.hp1 HG01099.hp2 HG02148.hp1 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0002t0003 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0340 a0001c0002t0003g0343 a0002c0001t0001g0005 others(3): Show a0001c0002t0001g0340 a0001c0002t0003g0343 a0002c0001t0001g0005 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0003g0339	7	348	0.0201	0	c.101 others(5): Show c.101+8C>T		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	1/14					chr22	TogoVar
EMID1_chr22_29200896_29264597	29231588	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02486.hp1 HG03225.hp2 others(2): Show HG02258.hp1 HG02486.hp1 HG03225.hp2 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0003c0003t0001 a0001c0002t0002 a0003c0003t0001	a0001c0002t0002g0032 a0001c0002t0002g0034 a0003c0003t0001g0333 others(2): Show a0001c0002t0002g0032 a0001c0002t0002g0034 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335	5	348	0.0144	0	c.587 others(5): Show c.587-5C>G		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	6/14					chr22	TogoVar
EMID1_chr22_29200896_29264597	29234348	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp1 HG00639.hp1 HG00642.hp2 others(57): Show HG00438.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG02015.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19081.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0006 a0003c0003 a0004c0004 a0005c0006	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(5): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0005c0006t0003	a0003c0003t0001g0028 a0003c0003t0001g0210 a0003c0003t0001g0226 others(56): Show a0003c0003t0001g0028 a0003c0003t0001g0210 a0003c0003t0001g0226 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0002g0040 a0003c0003t0002g0085 a0003c0003t0002g0321 a0003c0003t0002g0325 a0003c0003t0003g0004 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0058 a0003c0003t0003g0067 a0003c0003t0003g0084 a0003c0003t0003g0086 a0003c0003t0003g0088 a0003c0003t0003g0139 a0003c0003t0003g0168 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0205 a0003c0003t0003g0208 a0003c0003t0003g0222 a0003c0003t0003g0224 a0003c0003t0003g0260 a0003c0003t0003g0292 a0003c0003t0003g0298 a0003c0003t0005g0282 a0003c0003t0005g0283 a0003c0003t0005g0322 a0003c0003t0005g0324 a0004c0004t0001g0057 a0004c0004t0001g0213 a0004c0004t0002g0119 a0004c0004t0002g0145 a0004c0004t0002g0323 a0004c0004t0003g0071 a0004c0004t0003g0081 a0004c0004t0003g0082 a0004c0004t0003g0083 a0004c0004t0003g0103 a0004c0004t0003g0104 a0004c0004t0003g0113 a0004c0004t0003g0114 a0004c0004t0003g0118 a0004c0004t0003g0132 a0004c0004t0003g0172 a0004c0004t0003g0185 a0004c0004t0003g0209 a0004c0004t0003g0215 a0004c0004t0003g0216 a0004c0004t0003g0221 a0004c0004t0003g0306 a0005c0006t0003g0066	60	348	0.1724	0	c.107 others(4): Show c.1073G>A	p.Arg others(6): Show p.Arg358Gln	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	12/15	1216/2128	1073/1332	358/443		chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2906766	TCCCCGAC others(21): Show TCCCCGACGCCCGGCAGAGGCGCCCTCGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG03669.hp1 NA18945.hp2 others(4): Show HG01123.hp1 HG03669.hp1 NA18945.hp2 NA18950.hp2 NA18966.hp1 NA19065.hp2 NA19066.hp2	a0004 a0004	a0004c0011 a0004c0039 a0004c0043 a0004c0011 a0004c0039 a0004c0043	a0004c0011t0002 a0004c0011t0003 a0004c0039t0063 others(1): Show a0004c0011t0002 a0004c0011t0003 a0004c0039t0063 a0004c0043t0003	a0004c0011t0002g0184 a0004c0011t0003g0148 a0004c0011t0003g0287 others(4): Show a0004c0011t0002g0184 a0004c0011t0003g0148 a0004c0011t0003g0287 a0004c0011t0003g0329 a0004c0011t0003g0397 a0004c0039t0063g0017 a0004c0043t0003g0164	7	452	0.0155	-28	c.236 others(40): Show c.2360-11_2376delACGCCCGGCAGAGGCGCCCTCGCCCCCG	p.Lys others(5): Show p.Lys787fs	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	5/8		2360/3162	787/1053	INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99851039	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00609.hp1 HG00735.hp2 others(36): Show HG00140.hp1 HG00609.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02970.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18939.hp2 NA18953.hp2 NA18963.hp1 NA18970.hp1 NA18983.hp1 NA18984.hp2 NA19088.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0002 a0001c0004 a0002c0006 a0003c0002	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(6): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0010 a0001c0004t0011 a0002c0006t0002 a0002c0006t0003 a0003c0002t0003	a0001c0004t0001g0009 a0001c0004t0001g0040 a0001c0004t0001g0091 others(36): Show a0001c0004t0001g0009 a0001c0004t0001g0040 a0001c0004t0001g0091 a0001c0004t0001g0115 a0001c0004t0001g0135 a0001c0004t0001g0143 a0001c0004t0002g0047 a0001c0004t0003g0022 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0003g0035 a0001c0004t0003g0048 a0001c0004t0003g0049 a0001c0004t0003g0059 a0001c0004t0003g0064 a0001c0004t0003g0074 a0001c0004t0003g0075 a0001c0004t0003g0090 a0001c0004t0003g0096 a0001c0004t0003g0103 a0001c0004t0003g0127 a0001c0004t0003g0131 a0001c0004t0003g0145 a0001c0004t0003g0149 a0001c0004t0003g0180 a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0206 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0280 a0001c0004t0005g0249 a0001c0004t0005g0266 a0001c0004t0010g0235 a0001c0004t0011g0156 a0002c0006t0002g0128 a0002c0006t0002g0148 a0002c0006t0003g0076 a0003c0002t0003g0125	39	288	0.1354	0	c.250 others(5): Show c.250+4G>A		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	2/21					chr14	TogoVar
EML1_chr14_99788413_99947060	99937920	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0265 a0001c0005t0005g0265	1	288	0.0035	0	c.219 others(6): Show c.2191+8T>G		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	20/21					chr14	TogoVar
EML2_chr19_45604400_45644397	45621200	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19005.hp2 NA19005.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0197 a0013c0021t0002g0197	1	382	0.0026	0	c.112 others(6): Show c.1122+7C>A		EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	11/18					chr19	TogoVar
EML2_chr19_45604400_45644397	45621203	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0033 a0001c0020t0001g0033	1	382	0.0026	0	c.112 others(6): Show c.1122+4C>T		EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	11/18					chr19	TogoVar
EML2_chr19_45604400_45644397	45634457	CCACGGTA others(20): Show CCACGGTAGCCATAGCTGGAGCCACCCA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0037 a0010c0023t0001g0037	1	382	0.0026	-27	c.180 others(37): Show c.180-13_193delTGGGTGGCTCCAGCTATGGCTACCGTG	p.Tyr others(4): Show p.Tyr61fs	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	4/19	214/2234	180/1950	60/649		chr19	TogoVar
EML3_chr11_62597218_62617775	62602683	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00609.hp1 HG00621.hp1 others(43): Show HG00140.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG02004.hp1 HG02083.hp1 HG02293.hp1 HG02300.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp2 NA18952.hp1 NA18959.hp2 NA18971.hp2 NA18981.hp2 NA19055.hp1 NA19058.hp1 NA19089.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009	a0001c0001t0007g0034 a0001c0002t0002g0002 a0001c0002t0002g0013 others(8): Show a0001c0001t0007g0034 a0001c0002t0002g0002 a0001c0002t0002g0013 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0006g0019 a0001c0002t0006g0079 a0001c0002t0007g0064 a0001c0002t0008g0029 a0001c0002t0009g0030	46	312	0.1474	0	c.248 others(6): Show c.2488-5C>T		EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	21/21					chr11	TogoVar
EML3_chr11_62597218_62617775	62602887	C C	CGCCTAGC others(16): Show CGCCTAGCACAGCGGCCGGCCTCA	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	NA19067.hp1 NA19067.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0053 a0005c0010t0001g0053	1	312	0.0032	23	c.235 others(35): Show c.2357-21_2358dupTGAGGCCGGCCGCTGTGCTAGGC	p.Val others(5): Show p.Val787fs	EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	21/22	2676/3266	2358/2691	786/896		chr11	TogoVar
EML3_chr11_62597218_62617775	62603253	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	312	0.0032	0	c.225 others(6): Show c.2258-6C>A		EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	19/21					chr11	TogoVar
EML3_chr11_62597218_62617775	62604049	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG01106.hp2 HG01884.hp1 others(7): Show HG00738.hp2 HG01106.hp2 HG01884.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0004 a0001c0002t0001 a0001c0002t0004 a0001c0003t0004	a0001c0002t0001g0016 a0001c0002t0004g0007 a0001c0003t0004g0028 a0001c0002t0001g0016 a0001c0002t0004g0007 a0001c0003t0004g0028	10	312	0.0321	0	c.207 others(6): Show c.2072-8A>G		EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	17/21					chr11	TogoVar
EML4_chr2_42164353_42337548	42245497	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0193 a0001c0001t0006g0193	1	358	0.0028	0	c.26- others(4): Show c.26-8T>C		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					chr2	TogoVar
EML4_chr2_42164353_42337548	42295267	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	358	0.0028	0	c.135 others(6): Show c.1353+8T>G		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	12/22					chr2	TogoVar
EML4_chr2_42164353_42337548	42328882	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(91): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02559.hp1 HG02602.hp2 HG02922.hp1 HG02970.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0016 a0005c0006t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0017 others(91): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0354 a0002c0002t0002g0003 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0007g0031 a0002c0002t0007g0056 a0002c0002t0008g0085 a0002c0002t0009g0024 a0002c0002t0009g0070 a0002c0002t0009g0071 a0002c0002t0009g0072 a0002c0002t0009g0073 a0002c0002t0016g0074 a0005c0006t0001g0048 a0005c0006t0001g0086 a0005c0006t0001g0115 a0005c0006t0001g0116	94	358	0.2626	0	c.234 others(6): Show c.2342-4A>T		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	21/22					chr2	TogoVar
EML5_chr14_88607431_88797953	88612433	C C	T T	splice_region_variant splice_region_variant	LOW	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0066 a0001c0001t0031g0066	1	332	0.0030	0	c.33 others(5): Show c.3385G>A		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	44/44					chr14	TogoVar
EML5_chr14_88607431_88797953	88695454	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0080 a0007c0010t0003g0080	1	332	0.0030	0	c.234 others(4): Show c.2345C>T	p.Ala others(6): Show p.Ala782Val	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	16/44	2795/9771	2345/5934	782/1977		chr14	TogoVar
EML6_chr2_54718662_54977025	54863892	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(30): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02080.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03688.hp2 HG04199.hp2 NA18612.hp1 NA18945.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18993.hp1 NA18994.hp2 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0028 a0001c0001t0056 a0001c0002t0001 a0001c0003t0009 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0001 a0001c0006t0003 a0001c0006t0025	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 others(30): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0003g0096 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0005g0243 a0001c0001t0021g0044 a0001c0001t0021g0045 a0001c0001t0028g0184 a0001c0001t0056g0258 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0003t0009g0132 a0001c0004t0001g0206 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0008g0098 a0001c0004t0008g0099 a0001c0004t0008g0120 a0001c0005t0001g0221 a0001c0006t0003g0134 a0001c0006t0025g0212 a0001c0006t0025g0213	33	264	0.1250	0	c.193 others(6): Show c.1932+3C>T		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	13/41					chr2	TogoVar

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