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
EFR3A_chr8_131899093_132018642	131940480	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(148): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19001.hp1 NA19003.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0008 a0013 a0014 a0015	a0001c0001 a0002c0002 a0003c0004 others(6): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0007c0016 a0008c0014 a0013c0010 a0014c0009 a0015c0017	a0001c0001t0006 a0001c0001t0025 a0002c0002t0001 others(13): Show a0001c0001t0006 a0001c0001t0025 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0013 a0002c0002t0015 a0002c0002t0018 a0002c0002t0026 a0003c0004t0008 a0004c0006t0002 a0007c0016t0002 a0008c0014t0002 a0013c0010t0002 a0014c0009t0002 a0015c0017t0002	a0001c0001t0006g0153 a0001c0001t0025g0375 a0002c0002t0001g0034 others(139): Show a0001c0001t0006g0153 a0001c0001t0025g0375 a0002c0002t0001g0034 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0131 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0348 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0361 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0002g0369 a0002c0002t0002g0370 a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0376 a0002c0002t0002g0380 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0386 a0002c0002t0007g0272 a0002c0002t0007g0273 a0002c0002t0007g0277 a0002c0002t0007g0278 a0002c0002t0007g0279 a0002c0002t0013g0081 a0002c0002t0013g0082 a0002c0002t0013g0083 a0002c0002t0013g0084 a0002c0002t0015g0355 a0002c0002t0015g0356 a0002c0002t0018g0290 a0002c0002t0018g0381 a0002c0002t0026g0318 a0003c0004t0008g0094 a0003c0004t0008g0095 a0003c0004t0008g0096 a0004c0006t0002g0022 a0004c0006t0002g0374 a0007c0016t0002g0317 a0008c0014t0002g0373 a0013c0010t0002g0233 a0014c0009t0002g0240 a0015c0017t0002g0230	151	412	0.3665	1	c.11- others(5): Show c.11-6dupT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	131953798	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG00738.hp1 HG01255.hp2 others(7): Show HG00642.hp2 HG00738.hp1 HG01255.hp2 HG01993.hp1 HG02896.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 NA18978.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0003t0003 a0001c0003t0016 others(1): Show a0001c0001t0004 a0001c0003t0003 a0001c0003t0016 a0002c0002t0002	a0001c0001t0004g0253 a0001c0003t0003g0006 a0001c0003t0003g0037 others(6): Show a0001c0001t0004g0253 a0001c0003t0003g0006 a0001c0003t0003g0037 a0001c0003t0003g0042 a0001c0003t0003g0080 a0001c0003t0016g0291 a0002c0002t0002g0228 a0002c0002t0002g0341 a0002c0002t0002g0350	10	412	0.0243	-1	c.489 others(6): Show c.489-5delT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	5/22				INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	131953798	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01243.hp2 HG01943.hp2 others(14): Show HG00639.hp1 HG01243.hp2 HG01943.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0019 a0003c0004 a0001c0001 a0001c0019 a0003c0004	a0001c0001t0001 a0001c0019t0019 a0003c0004t0008 others(1): Show a0001c0001t0001 a0001c0019t0019 a0003c0004t0008 a0003c0004t0017	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(14): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0019t0019g0132 a0003c0004t0008g0094 a0003c0004t0008g0095 a0003c0004t0008g0096 a0003c0004t0008g0147 a0003c0004t0008g0148 a0003c0004t0017g0281 a0003c0004t0017g0282	17	412	0.0413	-2	c.489 others(13): Show c.489-6_489-5delTT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	5/22				INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	131955761	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0086 a0001c0003t0003g0086	1	412	0.0024	0	c.639 others(5): Show c.639-7T>C		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	6/22					chr8	TogoVar
EFR3A_chr8_131899093_132018642	131955765	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02818.hp1 HG03139.hp2 others(4): Show HG02723.hp1 HG02818.hp1 HG03139.hp2 HG03516.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0017 a0003c0004t0008 a0003c0004t0017	a0003c0004t0008g0094 a0003c0004t0008g0095 a0003c0004t0008g0096 others(4): Show a0003c0004t0008g0094 a0003c0004t0008g0095 a0003c0004t0008g0096 a0003c0004t0008g0147 a0003c0004t0008g0148 a0003c0004t0017g0281 a0003c0004t0017g0282	7	412	0.0170	0	c.639 others(5): Show c.639-3T>C		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	6/22					chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013641	A A	T T	splice_region_variant splice_region_variant	LOW	HG01109.hp2 HG02559.hp2 HG02895.hp1 others(1): Show HG01109.hp2 HG02559.hp2 HG02895.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0081 a0002c0002t0013g0082 a0002c0002t0013g0083 others(1): Show a0002c0002t0013g0081 a0002c0002t0013g0082 a0002c0002t0013g0083 a0002c0002t0013g0084	4	412	0.0097	0	c.27 others(5): Show c.2746A>T		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	23/23					chr8	TogoVar
EFR3B_chr2_25037076_25164135	25091317	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(180): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0014 a0001c0015 a0002c0012 a0003c0011 a0004c0007 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0020 a0001c0002t0035 a0001c0002t0037 a0001c0003t0006 a0001c0003t0009 a0001c0003t0027 a0001c0005t0014 a0001c0010t0005 a0001c0014t0002 a0001c0015t0008 a0002c0012t0050 a0003c0011t0045 a0004c0007t0003 a0005c0013t0044	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(180): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0001g0261 a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0231 a0001c0001t0003g0265 a0001c0001t0003g0296 a0001c0001t0004g0269 a0001c0001t0005g0161 a0001c0001t0005g0165 a0001c0001t0005g0174 a0001c0001t0005g0185 a0001c0001t0005g0192 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0201 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0005g0215 a0001c0001t0005g0276 a0001c0001t0007g0038 a0001c0001t0007g0221 a0001c0001t0007g0232 a0001c0001t0007g0234 a0001c0001t0007g0240 a0001c0001t0007g0252 a0001c0001t0007g0305 a0001c0001t0008g0094 a0001c0001t0008g0098 a0001c0001t0008g0107 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0121 a0001c0001t0008g0228 a0001c0001t0012g0071 a0001c0001t0012g0084 a0001c0001t0012g0089 a0001c0001t0012g0093 a0001c0001t0012g0242 a0001c0001t0015g0200 a0001c0001t0015g0203 a0001c0001t0015g0205 a0001c0001t0016g0150 a0001c0001t0016g0153 a0001c0001t0016g0182 a0001c0001t0017g0065 a0001c0001t0017g0152 a0001c0001t0017g0181 a0001c0001t0019g0123 a0001c0001t0019g0124 a0001c0001t0028g0197 a0001c0001t0039g0216 a0001c0001t0040g0103 a0001c0001t0041g0096 a0001c0001t0042g0075 a0001c0001t0043g0097 a0001c0001t0046g0303 a0001c0001t0047g0068 a0001c0001t0048g0218 a0001c0001t0051g0125 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0128 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0206 a0001c0002t0001g0220 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0280 a0001c0002t0004g0009 a0001c0002t0004g0048 a0001c0002t0004g0176 a0001c0002t0004g0243 a0001c0002t0004g0273 a0001c0002t0004g0291 a0001c0002t0005g0198 a0001c0002t0011g0253 a0001c0002t0011g0277 a0001c0002t0011g0279 a0001c0002t0020g0003 a0001c0002t0020g0004 a0001c0002t0035g0208 a0001c0002t0037g0239 a0001c0003t0006g0230 a0001c0003t0006g0262 a0001c0003t0006g0270 a0001c0003t0006g0274 a0001c0003t0006g0285 a0001c0003t0009g0225 a0001c0003t0009g0226 a0001c0003t0009g0227 a0001c0003t0009g0263 a0001c0003t0009g0275 a0001c0003t0009g0283 a0001c0003t0009g0290 a0001c0003t0009g0292 a0001c0003t0027g0184 a0001c0005t0014g0212 a0001c0005t0014g0213 a0001c0005t0014g0214 a0001c0010t0005g0163 a0001c0014t0002g0248 a0001c0015t0008g0078 a0002c0012t0050g0281 a0003c0011t0045g0272 a0004c0007t0003g0070 a0005c0013t0044g0297	183	306	0.5980	0	c.8-8 others(3): Show c.8-8T>C		EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22					chr2	TogoVar
EFR3B_chr2_25037076_25164135	25133012	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18974.hp2 NA18975.hp2 NA18982.hp1 others(1): Show NA18974.hp2 NA18975.hp2 NA18982.hp1 NA19054.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0016 others(1): Show a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0002g0056	4	306	0.0131	0	c.125 others(4): Show c.1257G>C	p.Thr others(6): Show p.Thr419Thr	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	11/23	1494/7486	1257/2454	419/817		chr2	TogoVar
EFS_chr14_23351406_23370172	23357658	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0055 a0001c0016t0001g0055	1	404	0.0025	0	c.125 others(4): Show c.1254G>A	p.Glu others(6): Show p.Glu418Glu	EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding	6/6	1401/2653	1254/1686	418/561		chr14	TogoVar
EFS_chr14_23351406_23370172	23359314	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 NA19043.hp1 HG02451.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	2	404	0.0050	0	c.116 others(6): Show c.1161+3G>A		EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding	4/5					chr14	TogoVar
EFS_chr14_23351406_23370172	23360038	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01255.hp1 HG01361.hp1 HG01255.hp1 HG01361.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0024 a0010c0010t0001g0024	2	404	0.0050	0	c.440 others(3): Show c.440T>C	p.Val others(6): Show p.Val147Ala	EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding	4/6	587/2653	440/1686	147/561		chr14	TogoVar
EFS_chr14_23351406_23370172	23360044	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02280.hp2 HG02809.hp2 others(4): Show HG02055.hp1 HG02280.hp2 HG02809.hp2 HG02818.hp1 HG03195.hp1 HG03579.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0009 a0004c0005t0002g0027 a0004c0005t0002g0028 a0004c0005t0002g0009 a0004c0005t0002g0027 a0004c0005t0002g0028	7	404	0.0173	0	c.439 others(5): Show c.439-5C>T		EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding	3/5					chr14	TogoVar
EFS_chr14_23351406_23370172	23360833	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(171): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011	a0002c0002 a0002c0003 a0002c0020 others(9): Show a0002c0002 a0002c0003 a0002c0020 a0002c0021 a0003c0004 a0004c0005 a0005c0007 a0006c0008 a0007c0009 a0008c0011 a0009c0012 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(12): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0003t0002 a0002c0003t0008 a0002c0020t0006 a0002c0021t0001 a0003c0004t0002 a0004c0005t0002 a0005c0007t0002 a0006c0008t0002 a0007c0009t0002 a0008c0011t0002 a0009c0012t0002 a0011c0019t0003	a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0023 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0003g0014 a0002c0002t0003g0033 a0002c0002t0007g0045 a0002c0003t0002g0003 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0008g0073 a0002c0020t0006g0067 a0002c0021t0001g0062 a0003c0004t0002g0004 a0003c0004t0002g0013 a0003c0004t0002g0030 a0004c0005t0002g0009 a0004c0005t0002g0018 a0004c0005t0002g0027 a0004c0005t0002g0028 a0004c0005t0002g0029 a0005c0007t0002g0010 a0006c0008t0002g0012 a0006c0008t0002g0068 a0007c0009t0002g0015 a0008c0011t0002g0020 a0009c0012t0002g0019 a0011c0019t0003g0032	174	404	0.4307	0	c.19A others(2): Show c.19A>G	p.Thr others(4): Show p.Thr7Ala	EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding	2/6	166/2653	19/1686	7/561		chr14	TogoVar
EFS_chr14_23351406_23370172	23360839	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(171): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011	a0002c0002 a0002c0003 a0002c0020 others(9): Show a0002c0002 a0002c0003 a0002c0020 a0002c0021 a0003c0004 a0004c0005 a0005c0007 a0006c0008 a0007c0009 a0008c0011 a0009c0012 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(12): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0003t0002 a0002c0003t0008 a0002c0020t0006 a0002c0021t0001 a0003c0004t0002 a0004c0005t0002 a0005c0007t0002 a0006c0008t0002 a0007c0009t0002 a0008c0011t0002 a0009c0012t0002 a0011c0019t0003	a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0023 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0003g0014 a0002c0002t0003g0033 a0002c0002t0007g0045 a0002c0003t0002g0003 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0008g0073 a0002c0020t0006g0067 a0002c0021t0001g0062 a0003c0004t0002g0004 a0003c0004t0002g0013 a0003c0004t0002g0030 a0004c0005t0002g0009 a0004c0005t0002g0018 a0004c0005t0002g0027 a0004c0005t0002g0028 a0004c0005t0002g0029 a0005c0007t0002g0010 a0006c0008t0002g0012 a0006c0008t0002g0068 a0007c0009t0002g0015 a0008c0011t0002g0020 a0009c0012t0002g0019 a0011c0019t0003g0032	174	404	0.4307	0	c.19- others(4): Show c.19-6A>C		EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding	1/5					chr14	TogoVar
EFTUD2_chr17_44844948_44904445	44862715	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02083.hp1 NA19083.hp2 HG02083.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0232 a0001c0003t0001g0176 a0001c0003t0001g0232	2	370	0.0054	0	c.160 others(4): Show c.1605C>T	p.Ala others(6): Show p.Ala535Ala	EFTUD2	ENSG00000108883.13	transcript	ENST00000426333.7	protein_coding	16/28	1686/4326	1605/2919	535/972		chr17	TogoVar
EFTUD2_chr17_44844948_44904445	44872440	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp1 HG00544.hp1 others(81): Show HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02055.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp1 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0005t0003 a0001c0007t0001 a0001c0009t0003	a0001c0001t0001g0311 a0001c0001t0003g0260 a0001c0001t0003g0261 others(78): Show a0001c0001t0001g0311 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0004g0321 a0001c0001t0005g0004 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0006g0005 a0001c0001t0012g0020 a0001c0005t0003g0266 a0001c0007t0001g0025 a0001c0009t0003g0272	84	370	0.2270	0	c.994 others(5): Show c.994+6C>T		EFTUD2	ENSG00000108883.13	transcript	ENST00000426333.7	protein_coding	11/27					chr17	TogoVar
EFTUD2_chr17_44844948_44904445	44883641	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(207): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0005t0003 a0001c0007t0001 a0001c0009t0003 a0002c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0001g0059 others(194): Show a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0199 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0311 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0004g0006 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0321 a0001c0001t0005g0004 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0006g0005 a0001c0001t0008g0028 a0001c0001t0008g0030 a0001c0001t0008g0032 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0012g0020 a0001c0001t0013g0166 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0243 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0002g0174 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0337 a0001c0002t0006g0167 a0001c0002t0006g0168 a0001c0002t0006g0169 a0001c0002t0006g0170 a0001c0002t0006g0171 a0001c0002t0006g0253 a0001c0005t0003g0266 a0001c0007t0001g0025 a0001c0009t0003g0272 a0002c0004t0001g0338	210	370	0.5676	0	c.426 others(5): Show c.426+8G>A		EFTUD2	ENSG00000108883.13	transcript	ENST00000426333.7	protein_coding	5/27					chr17	TogoVar
EGFL6_chrX_13564601_13638575	13606379	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18994.hp1 NA18994.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0176 a0011c0023t0001g0176	1	302	0.0033	0	c.521 others(3): Show c.521A>G	p.Asp others(6): Show p.Asp174Gly	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	6/12	782/2403	521/1662	174/553		chrX	TogoVar
EGFL6_chrX_13564601_13638575	13606511	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0004 a0010c0016t0004	a0010c0016t0004g0025 a0010c0016t0004g0025	1	302	0.0033	0	c.653 others(3): Show c.653T>A	p.Ile others(6): Show p.Ile218Lys	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	6/12	914/2403	653/1662	218/553		chrX	TogoVar
EGFL7_chr9_136657916_136677678	136672096	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	432	0.0023	0	c.799 others(5): Show c.799+8C>A		EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	10/10					chr9	TogoVar
EGFL8_chr6_32159595_32173281	32166618	C C	G G	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0003 a0005c0007t0005g0003	1	433	0.0023	0	c.222 others(3): Show c.222C>G	p.Tyr others(3): Show p.Tyr74*	EGFL8	ENSG00000241404.7	transcript	ENST00000333845.11	protein_coding	3/9	313/1298	222/882	74/293		chr6	TogoVar
EGFLAM_chr5_38253559_38470480	38406126	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0001 a0026c0030t0001	a0026c0030t0001g0019 a0026c0030t0001g0019	1	190	0.0053	0	c.713 others(3): Show c.713G>A	p.Cys others(6): Show p.Cys238Tyr	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	7/22	909/4720	713/3030	238/1009		chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38409005	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0025 a0025	a0025c0034 a0025c0034	a0025c0034t0001 a0025c0034t0001	a0025c0034t0001g0172 a0025c0034t0001g0172	1	190	0.0053	0	c.125 others(4): Show c.1250C>T	p.Ala others(6): Show p.Ala417Val	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	10/22	1446/4720	1250/3030	417/1009		chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38409006	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp1 HG02572.hp1 NA19030.hp1 HG02258.hp1 HG02572.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0023 a0003c0011 a0002c0023 a0003c0011	a0002c0023t0004 a0003c0011t0005 a0003c0011t0016 a0002c0023t0004 a0003c0011t0005 a0003c0011t0016	a0002c0023t0004g0123 a0003c0011t0005g0115 a0003c0011t0016g0143 a0002c0023t0004g0123 a0003c0011t0005g0115 a0003c0011t0016g0143	3	190	0.0158	0	c.125 others(4): Show c.1251G>A	p.Ala others(6): Show p.Ala417Ala	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	10/22	1447/4720	1251/3030	417/1009		chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38438269	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01167.hp2 HG01243.hp1 others(41): Show HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0012 a0013 a0020	a0001c0001 a0001c0010 a0002c0002 others(13): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0003c0008 a0003c0011 a0004c0004 a0004c0031 a0004c0033 a0006c0006 a0008c0029 a0009c0037 a0010c0012 a0012c0014 a0013c0016 a0020c0026	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0010t0006 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0002c0002t0020 a0002c0002t0023 a0003c0003t0003 a0003c0003t0006 a0003c0003t0009 a0003c0003t0010 a0003c0003t0011 a0003c0003t0012 a0003c0003t0022 a0003c0008t0010 a0003c0011t0005 a0003c0011t0016 a0004c0004t0004 a0004c0004t0005 a0004c0004t0009 a0004c0004t0011 a0004c0031t0013 a0004c0033t0003 a0006c0006t0002 a0008c0029t0002 a0009c0037t0006 a0010c0012t0015 a0010c0012t0028 a0012c0014t0013 a0012c0014t0027 a0013c0016t0012 a0013c0016t0015 a0020c0026t0006	a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0005g0154 others(41): Show a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0005g0154 a0001c0001t0006g0086 a0001c0001t0006g0106 a0001c0001t0016g0147 a0001c0001t0017g0085 a0001c0010t0006g0098 a0002c0002t0003g0164 a0002c0002t0004g0128 a0002c0002t0007g0095 a0002c0002t0011g0114 a0002c0002t0020g0158 a0002c0002t0023g0072 a0003c0003t0003g0073 a0003c0003t0006g0090 a0003c0003t0009g0055 a0003c0003t0010g0121 a0003c0003t0010g0125 a0003c0003t0011g0110 a0003c0003t0012g0048 a0003c0003t0022g0069 a0003c0008t0010g0132 a0003c0011t0005g0115 a0003c0011t0016g0143 a0004c0004t0004g0150 a0004c0004t0005g0124 a0004c0004t0005g0127 a0004c0004t0005g0149 a0004c0004t0009g0006 a0004c0004t0011g0138 a0004c0031t0013g0157 a0004c0033t0003g0161 a0006c0006t0002g0134 a0006c0006t0002g0151 a0008c0029t0002g0118 a0009c0037t0006g0140 a0010c0012t0015g0122 a0010c0012t0028g0117 a0012c0014t0013g0007 a0012c0014t0027g0126 a0013c0016t0012g0155 a0013c0016t0015g0133 a0020c0026t0006g0070	44	190	0.2316	0	c.228 others(6): Show c.2284-6C>G		EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	16/21					chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38451309	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	190	0.0053	0	c.254 others(6): Show c.2544-6C>T		EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	18/21					chr5	TogoVar
EGFR_chr7_55014017_55216628	55160132	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01993.hp1 HG02818.hp1 HG03579.hp1 others(1): Show HG01993.hp1 HG02818.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0022 a0001c0003t0001 a0001c0001t0001 a0001c0001t0022 a0001c0003t0001	a0001c0001t0001g0247 a0001c0001t0022g0015 a0001c0001t0022g0248 others(1): Show a0001c0001t0001g0247 a0001c0001t0022g0015 a0001c0001t0022g0248 a0001c0003t0001g0242	4	250	0.0160	0	c.129 others(6): Show c.1299-7A>G		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	11/27					chr7	TogoVar
EGFR_chr7_55014017_55216628	55163733	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00639.hp1 HG01884.hp2 NA19043.hp1 HG00639.hp1 HG01884.hp2 NA19043.hp1	a0001 a0001	a0001c0022 a0001c0034 a0001c0022 a0001c0034	a0001c0022t0001 a0001c0022t0054 a0001c0034t0036 a0001c0022t0001 a0001c0022t0054 a0001c0034t0036	a0001c0022t0001g0019 a0001c0022t0054g0212 a0001c0034t0036g0240 a0001c0022t0001g0019 a0001c0022t0054g0212 a0001c0034t0036g0240	3	250	0.0120	0	c.163 others(4): Show c.1632T>C	p.Gly others(6): Show p.Gly544Gly	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	14/28	1893/9905	1632/3633	544/1210		chr7	TogoVar
EGF_chr4_109907883_110018766	109988579	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0017 a0001c0019t0007 a0001c0019t0017	a0001c0019t0007g0139 a0001c0019t0017g0140 a0001c0019t0007g0139 a0001c0019t0017g0140	2	388	0.0052	0	c.260 others(6): Show c.2609-5C>A		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	17/23					chr4	TogoVar
EGLN1_chr1_231358756_231427287	231367562	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	338	0.0030	0	c.121 others(6): Show c.1216+7G>A		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	4/4					chr1	TogoVar
EHBP1_chr2_62700713_63051487	62993526	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0160 a0001c0006t0001g0160	1	198	0.0051	0	c.273 others(6): Show c.2734-4T>C		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	16/22					chr2	TogoVar
EHD1_chr11_64846642_64883621	64855317	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0138 a0001c0002t0034g0138	1	354	0.0028	0	c.108 others(6): Show c.1080+5G>C		EHD1	ENSG00000110047.18	transcript	ENST00000320631.8	protein_coding	4/4					chr11	TogoVar
EHD2_chr19_47708422_47748134	47740876	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0234 a0001c0004t0002g0234	1	398	0.0025	0	c.108 others(6): Show c.1081-5C>G		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	5/5					chr19	TogoVar
EHD3_chr2_31229152_31274451	31260504	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0284 a0001c0001t0021g0284	1	378	0.0027	0	c.503 others(5): Show c.503-6C>T		EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	3/5					chr2	TogoVar
EHD3_chr2_31229152_31274451	31261719	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG02040.hp1 NA18986.hp2 others(4): Show HG00673.hp2 HG02040.hp1 NA18986.hp2 NA19063.hp2 NA19068.hp1 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0036 a0001c0001t0072 a0001c0001t0013 a0001c0001t0036 a0001c0001t0072	a0001c0001t0013g0214 a0001c0001t0013g0215 a0001c0001t0013g0217 others(4): Show a0001c0001t0013g0214 a0001c0001t0013g0215 a0001c0001t0013g0217 a0001c0001t0013g0218 a0001c0001t0013g0292 a0001c0001t0036g0201 a0001c0001t0072g0216	7	378	0.0185	0	c.108 others(6): Show c.1080+6G>A		EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	5/5					chr2	TogoVar
EHHADH_chr3_185185624_185259049	185229424	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00597.hp2 HG00741.hp2 others(30): Show HG00140.hp1 HG00597.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01255.hp1 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG02056.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG03017.hp2 HG03688.hp1 HG04199.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18993.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0313 a0001c0001t0001g0332 a0002c0002t0002g0001 others(26): Show a0001c0001t0001g0313 a0001c0001t0001g0332 a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0031 a0002c0002t0002g0269 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0334	33	348	0.0948	0	c.463 others(5): Show c.463+8T>C		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6					chr3	TogoVar
EHMT1_chr9_137614005_137841127	137743368	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0054 a0001c0007t0001g0054	1	170	0.0059	0	c.824 others(5): Show c.824-3T>A		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	4/26					chr9	TogoVar
EHMT1_chr9_137614005_137841127	137754290	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00642.hp1 HG01192.hp2 HG01361.hp1 others(10): Show HG00642.hp1 HG01192.hp2 HG01361.hp1 HG02486.hp1 HG02630.hp2 HG02738.hp1 HG02809.hp1 HG03041.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG06807.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0001c0018 a0003c0023 others(1): Show a0001c0005 a0001c0018 a0003c0023 a0003c0024	a0001c0005t0001 a0001c0018t0001 a0003c0023t0001 others(1): Show a0001c0005t0001 a0001c0018t0001 a0003c0023t0001 a0003c0024t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0048 others(10): Show a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0048 a0001c0005t0001g0063 a0001c0005t0001g0066 a0001c0005t0001g0072 a0001c0005t0001g0073 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0128 a0001c0018t0001g0062 a0003c0023t0001g0075 a0003c0024t0001g0074	13	170	0.0765	0	c.136 others(4): Show c.1368C>T	p.Leu others(6): Show p.Leu456Leu	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	8/27	1392/5095	1368/3897	456/1298		chr9	TogoVar
EHMT1_chr9_137614005_137841127	137834767	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	170	0.0059	0	c.371 others(6): Show c.3717-6C>G		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	26/26					chr9	TogoVar
EHMT2_chr6_31874759_31902698	31888511	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	413	0.0024	0	c.136 others(6): Show c.1366-5C>G		EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	11/27					chr6	TogoVar
EHMT2_chr6_31874759_31902698	31889230	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0001 a0010c0027t0001	a0010c0027t0001g0132 a0010c0027t0001g0132	1	413	0.0024	0	c.111 others(4): Show c.1112G>A	p.Arg others(6): Show p.Arg371Gln	EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	9/28	1133/3979	1112/3633	371/1210		chr6	TogoVar
EHMT2_chr6_31874759_31902698	31892560	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(357): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014	a0001c0001 a0001c0004 a0001c0005 others(22): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0021 a0001c0023 a0001c0025 a0001c0026 a0002c0002 a0002c0009 a0002c0014 a0002c0015 a0002c0016 a0002c0018 a0004c0019 a0005c0010 a0006c0011 a0007c0012 a0008c0013 a0009c0017 a0010c0027 a0012c0024 a0013c0020 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0021t0001 a0001c0023t0001 a0001c0025t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0009t0001 a0002c0014t0001 a0002c0015t0001 a0002c0016t0001 a0002c0018t0001 a0004c0019t0001 a0005c0010t0001 a0006c0011t0001 a0007c0012t0001 a0008c0013t0001 a0009c0017t0001 a0010c0027t0001 a0012c0024t0001 a0013c0020t0001 a0014c0028t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(129): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0030 a0001c0001t0004g0048 a0001c0004t0001g0013 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0005t0001g0021 a0001c0006t0001g0046 a0001c0006t0001g0125 a0001c0008t0001g0043 a0001c0021t0001g0121 a0001c0023t0001g0054 a0001c0025t0001g0112 a0001c0026t0001g0120 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0002g0014 a0002c0002t0002g0034 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0084 a0002c0002t0003g0036 a0002c0009t0001g0052 a0002c0014t0001g0069 a0002c0015t0001g0074 a0002c0016t0001g0076 a0002c0018t0001g0090 a0004c0019t0001g0091 a0005c0010t0001g0064 a0006c0011t0001g0065 a0007c0012t0001g0067 a0008c0013t0001g0068 a0009c0017t0001g0080 a0010c0027t0001g0132 a0012c0024t0001g0124 a0013c0020t0001g0092 a0014c0028t0001g0151	360	413	0.8717	0	c.711 others(3): Show c.711A>G	p.Ser others(6): Show p.Ser237Ser	EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	7/28	732/3979	711/3633	237/1210		chr6	TogoVar
EHMT2_chr6_31874759_31902698	31896822	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0001 a0014c0028t0001	a0014c0028t0001g0151 a0014c0028t0001g0151	1	413	0.0024	0	c.112 others(3): Show c.112C>T	p.His others(5): Show p.His38Tyr	EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	3/28	133/3979	112/3633	38/1210		chr6	TogoVar
EI24_chr11_125564477_125589684	125575411	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0151 a0001c0001t0014g0151	1	362	0.0028	0	c.188 others(5): Show c.188+3A>C		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	3/10					chr11	TogoVar
EI24_chr11_125564477_125589684	125582325	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00609.hp2 HG00735.hp2 others(98): Show HG00280.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005	a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 others(12): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0031 a0001c0002t0032 a0001c0002t0034 a0002c0004t0001 a0003c0005t0001	a0001c0001t0005g0134 a0001c0002t0001g0002 a0001c0002t0001g0008 others(61): Show a0001c0001t0005g0134 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0002g0002 a0001c0002t0002g0057 a0001c0002t0002g0069 a0001c0002t0003g0002 a0001c0002t0003g0009 a0001c0002t0003g0017 a0001c0002t0003g0027 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0005g0002 a0001c0002t0007g0002 a0001c0002t0007g0027 a0001c0002t0007g0051 a0001c0002t0007g0083 a0001c0002t0009g0002 a0001c0002t0009g0028 a0001c0002t0009g0073 a0001c0002t0009g0075 a0001c0002t0012g0018 a0001c0002t0012g0092 a0001c0002t0017g0018 a0001c0002t0020g0085 a0001c0002t0031g0070 a0001c0002t0032g0084 a0001c0002t0034g0076 a0002c0004t0001g0026 a0003c0005t0001g0002	101	362	0.2790	1	c.786 others(6): Show c.786-7dupT		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	9/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
EI24_chr11_125564477_125589684	125582325	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00733.hp1 HG00741.hp2 others(8): Show HG00099.hp1 HG00733.hp1 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01361.hp1 HG02148.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020	a0001c0002t0012g0030 a0001c0002t0012g0031 a0001c0002t0012g0097 others(6): Show a0001c0002t0012g0030 a0001c0002t0012g0031 a0001c0002t0012g0097 a0001c0002t0012g0100 a0001c0002t0012g0102 a0001c0002t0012g0104 a0001c0002t0017g0098 a0001c0002t0017g0103 a0001c0002t0020g0101	11	362	0.0304	2	c.786 others(13): Show c.786-8_786-7dupTT		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	9/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
EI24_chr11_125564477_125589684	125582418	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(133): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0004 a0003c0005 a0001c0002 a0002c0004 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0025 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0034 a0002c0004t0001 a0003c0005t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(89): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0002g0002 a0001c0002t0002g0057 a0001c0002t0002g0069 a0001c0002t0003g0002 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0017 a0001c0002t0003g0027 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0005g0002 a0001c0002t0007g0002 a0001c0002t0007g0010 a0001c0002t0007g0027 a0001c0002t0007g0051 a0001c0002t0007g0083 a0001c0002t0007g0091 a0001c0002t0007g0099 a0001c0002t0009g0002 a0001c0002t0009g0028 a0001c0002t0009g0073 a0001c0002t0009g0075 a0001c0002t0012g0018 a0001c0002t0012g0030 a0001c0002t0012g0031 a0001c0002t0012g0092 a0001c0002t0012g0097 a0001c0002t0012g0100 a0001c0002t0012g0102 a0001c0002t0012g0104 a0001c0002t0017g0018 a0001c0002t0017g0098 a0001c0002t0017g0103 a0001c0002t0020g0085 a0001c0002t0020g0101 a0001c0002t0022g0011 a0001c0002t0025g0088 a0001c0002t0029g0096 a0001c0002t0031g0070 a0001c0002t0032g0084 a0001c0002t0034g0076 a0002c0004t0001g0026 a0003c0005t0001g0002	136	362	0.3757	0	c.858 others(3): Show c.858A>G	p.Ala others(6): Show p.Ala286Ala	EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	10/11	1025/2191	858/1023	286/340		chr11	TogoVar
EI24_chr11_125564477_125589684	125582424	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0149 a0001c0003t0018g0149	1	362	0.0028	0	c.860 others(5): Show c.860+4A>C		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	10/10					chr11	TogoVar
EIF1AD_chr11_65991545_66007157	65998749	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	394	0.0025	0	c.354 others(5): Show c.354-6G>A		EIF1AD	ENSG00000175376.9	transcript	ENST00000533544.6	protein_coding	5/5					chr11	TogoVar
EIF1AD_chr11_65991545_66007157	65999682	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(301): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0039 a0001c0001t0041 a0002c0002t0005 a0002c0002t0013 a0002c0002t0018 a0002c0002t0021 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0040 a0004c0004t0018 a0005c0005t0033	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0006g0006 a0001c0001t0006g0040 a0001c0001t0006g0044 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0007g0012 a0001c0001t0007g0041 a0001c0001t0007g0056 a0001c0001t0008g0013 a0001c0001t0008g0077 a0001c0001t0009g0015 a0001c0001t0009g0034 a0001c0001t0010g0029 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0011g0011 a0001c0001t0014g0018 a0001c0001t0015g0016 a0001c0001t0017g0027 a0001c0001t0019g0028 a0001c0001t0020g0032 a0001c0001t0023g0036 a0001c0001t0024g0038 a0001c0001t0028g0055 a0001c0001t0029g0045 a0001c0001t0030g0046 a0001c0001t0031g0047 a0001c0001t0039g0048 a0001c0001t0041g0053 a0002c0002t0005g0004 a0002c0002t0005g0022 a0002c0002t0005g0068 a0002c0002t0005g0073 a0002c0002t0013g0023 a0002c0002t0018g0072 a0002c0002t0021g0033 a0002c0002t0034g0076 a0002c0002t0035g0070 a0002c0002t0036g0074 a0002c0002t0037g0067 a0002c0002t0038g0075 a0002c0002t0040g0071 a0004c0004t0018g0069 a0005c0005t0033g0064	304	394	0.7716	0	c.197 others(5): Show c.197-7T>C		EIF1AD	ENSG00000175376.9	transcript	ENST00000533544.6	protein_coding	3/5					chr11	TogoVar

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