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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 a0002c0004t0002 a0002c0004t0023 a0002c0004t0026 a0002c0004t0041 a0002c0018t0003 a0002c0018t0047 a0002c0019t0017 a0002c0020t0002 a0002c0020t0042 a0002c0021t0024 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0145 a0002c0003t0039g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0137 a0002c0004t0023g0006 a0002c0004t0026g0030 a0002c0004t0041g0011 a0002c0018t0003g0005 a0002c0018t0047g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0042g0020 a0002c0021t0024g0084 a0002c0022t0002g0020	73	432	0.1690	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407		chr1	TogoVar
ACSM2A_chr16_20446521_20492669	20465682	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show HG00673.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG03831.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp2	a0006 a0006	a0006c0006 a0006c0016 a0006c0006 a0006c0016	a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 others(2): Show a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0016t0002	a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 others(28): Show a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 a0006c0006t0002g0338 a0006c0006t0002g0343 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0350 a0006c0006t0002g0353 a0006c0006t0002g0354 a0006c0006t0002g0361 a0006c0006t0002g0362 a0006c0006t0002g0363 a0006c0006t0002g0364 a0006c0006t0002g0365 a0006c0006t0002g0366 a0006c0006t0002g0367 a0006c0006t0002g0368 a0006c0006t0002g0369 a0006c0006t0003g0012 a0006c0006t0003g0035 a0006c0006t0003g0352 a0006c0006t0003g0359 a0006c0006t0003g0373 a0006c0006t0009g0346 a0006c0006t0009g0356 a0006c0006t0009g0374 a0006c0006t0019g0344 a0006c0016t0002g0358 a0006c0016t0002g0360	34	436	0.0780	0	c.343 others(3): Show c.343C>T	p.Arg others(4): Show p.Arg115*	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	512/2894	343/1734	115/577		chr16	TogoVar
ADI1_chr2_3492366_3524531	3513880	T T	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0006 a0006c0009t0006	a0006c0009t0006g0150 a0006c0009t0006g0150	1	392	0.0026	0	c.217 others(3): Show c.217A>T	p.Lys others(3): Show p.Lys73*	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	261/2181	217/540	73/179		chr2	TogoVar
AIFM1_chrX_130124362_130170841	130156591	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18997.hp1 NA18997.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0119 a0007c0006t0001g0119	1	262	0.0038	-1	c.118 others(4): Show c.118delC	p.Gln others(4): Show p.Gln40fs	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	2/16	303/2222	118/1842	40/613		chrX	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 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 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0006g0005 a0001c0001t0006g0033 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	209	394	0.5305	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKRD7_chr7_118219704_118247732	118224885	TACAACCT others(3): Show TACAACCTTCG	T T	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0079 a0003c0008t0001g0079	1	406	0.0025	-10	c.57_ others(15): Show c.57_66delCAACCTTCGA	p.Tyr others(4): Show p.Tyr19fs	ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding	1/7	184/1313	57/765	19/254	INFO_REALIGN_3_PRIME	chr7	TogoVar
ANLN_chr7_36384862_36458791	36425997	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02717.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0001 a0002c0001t0010 a0004c0007t0001 a0002c0001t0001 a0002c0001t0010 a0004c0007t0001	a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 others(58): Show a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0053 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0096 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0300 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0010g0319 a0004c0007t0001g0382	64	408	0.1569	1	c.274 others(7): Show c.2749-3dupT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMS2_chr10_122449653_122462352	122454839	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02602.hp1 HG02970.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18959.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007	a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 a0003c0003t0002g0012 a0003c0003t0004g0003 a0003c0003t0005g0003 a0003c0003t0007g0003	61	424	0.1439	0	c.112 others(3): Show c.112C>T	p.Arg others(3): Show p.Arg38*	ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding	1/2	187/818	112/324	38/107		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0003t0002 a0001c0004t0081	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0020g0010 a0001c0001t0021g0007 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0026g0029 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0034g0007 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0054g0062 a0001c0001t0055g0053 a0001c0001t0056g0003 a0001c0001t0057g0047 a0001c0001t0058g0077 a0001c0001t0059g0003 a0001c0001t0060g0058 a0001c0001t0061g0003 a0001c0001t0068g0061 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0001t0074g0057 a0001c0001t0075g0033 a0001c0001t0076g0072 a0001c0001t0077g0007 a0001c0001t0078g0007 a0001c0001t0079g0007 a0001c0001t0080g0033 a0001c0003t0002g0002 a0001c0004t0081g0054	347	414	0.8382	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
BRIX1_chr5_34910711_34930996	34925223	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp1 NA18967.hp1 NA18973.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19060.hp1 NA19076.hp2 NA19078.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0026 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0120	50	440	0.1136	1	c.793 others(6): Show c.793-2dupA		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr5	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 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 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 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 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 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 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.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 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	442	0.2127	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190		chr17	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMTA2_chr17_4962997_4992675	4972767	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18997.hp1 NA18997.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0047 a0008c0013t0003g0047	1	380	0.0026	0	c.250 others(6): Show c.2503+2T>G		CAMTA2	ENSG00000108509.21	transcript	ENST00000348066.8	protein_coding	15/22					chr17	TogoVar
CARD8_chr19_48203086_48260912	48231760	C C	CTT CTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show HG00642.hp2 HG01109.hp1 HG02135.hp2 HG02738.hp2 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp1 NA18961.hp2 NA18972.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19067.hp1 NA19070.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0019 a0003c0006 a0003c0009 a0003c0019	a0003c0006t0003 a0003c0006t0006 a0003c0006t0016 others(3): Show a0003c0006t0003 a0003c0006t0006 a0003c0006t0016 a0003c0006t0048 a0003c0009t0002 a0003c0019t0006	a0003c0006t0003g0041 a0003c0006t0003g0045 a0003c0006t0003g0162 others(16): Show a0003c0006t0003g0041 a0003c0006t0003g0045 a0003c0006t0003g0162 a0003c0006t0003g0182 a0003c0006t0003g0183 a0003c0006t0003g0184 a0003c0006t0003g0185 a0003c0006t0003g0188 a0003c0006t0003g0243 a0003c0006t0006g0138 a0003c0006t0016g0279 a0003c0006t0016g0314 a0003c0006t0048g0086 a0003c0009t0002g0051 a0003c0009t0002g0052 a0003c0009t0002g0053 a0003c0009t0002g0054 a0003c0009t0002g0246 a0003c0019t0006g0115	19	362	0.0525	2	c.440 others(9): Show c.440_441dupAA	p.Val others(5): Show p.Val148fs	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	8/14	813/5610	441/1614	147/537		chr19	TogoVar
CCDC195_chr2_224698764_224721365	224716143	G G	A A	stop_gained stop_gained	HIGH	NA18970.hp2 NA18997.hp1 NA19075.hp1 NA18970.hp2 NA18997.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0019 a0002c0002t0000g0019	3	412	0.0073	0	c.223 others(3): Show c.223C>T	p.Gln others(3): Show p.Gln75*	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	1/3	223/606	223/606	75/201		chr2	TogoVar
CCNL2_chr1_1380711_1404335	1398672	CTAGAG CTAGAG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show HG00544.hp1 HG00558.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01261.hp1 HG01433.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp2 NA18948.hp1 NA18949.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19079.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0002c0002t0002 a0005c0005t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0042 others(35): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0005g0183 a0001c0001t0014g0199 a0002c0002t0002g0011 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0186 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0198 a0005c0005t0002g0213 a0005c0005t0002g0214 a0005c0005t0002g0215	52	370	0.1405	-5	c.289 others(16): Show c.289-6_289-2delCTCTA		CCNL2	ENSG00000221978.13	transcript	ENST00000400809.8	protein_coding	1/10					chr1	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0013 others(5): Show a0001 a0009 a0013 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0013c0015 a0016c0017 a0017c0028 a0018c0027 a0020c0024 a0023c0018	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0013c0015t0001 a0016c0017t0001 a0017c0028t0001 a0018c0027t0001 a0020c0024t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0013c0015t0001g0046 a0016c0017t0001g0136 a0017c0028t0001g0102 a0018c0027t0001g0153 a0020c0024t0001g0107 a0023c0018t0001g0096	175	484	0.3616	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CMYA5_chr5_79684836_79805222	79761809	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0353 a0005c0005t0001g0353	1	358	0.0028	0	c.112 others(7): Show c.11261-2A>G		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	7/12					chr5	TogoVar
CNGA2_chrX_151729746_151750564	151744371	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18997.hp1 NA18997.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0004 a0013c0017t0004	a0013c0017t0004g0122 a0013c0017t0004g0122	1	336	0.0030	1	c.187 others(5): Show c.1873dupG	p.Ala others(5): Show p.Ala625fs	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	7/7	2098/3285	1874/1995	625/664	INFO_REALIGN_3_PRIME	chrX	TogoVar
COL1A2_chr7_94389895_94436227	94429215	TCCAAGGA others(6): Show TCCAAGGAAATGGC	T T	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0002 a0009c0028t0002	a0009c0028t0002g0207 a0009c0028t0002g0207	1	438	0.0023	-13	c.374 others(22): Show c.3740_3752delCCAAGGAAATGGC	p.Ser others(6): Show p.Ser1247fs	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	51/52	3877/5072	3740/4101	1247/1366		chr7	TogoVar
CPN2_chr3_194334768_194356328	194341178	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0010 others(4): Show a0002 a0005 a0010 a0011 a0013 a0014 a0018	a0002c0002 a0002c0011 a0002c0014 others(7): Show a0002c0002 a0002c0011 a0002c0014 a0002c0016 a0005c0006 a0010c0030 a0011c0029 a0013c0028 a0014c0027 a0018c0024	a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 others(17): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0011t0003 a0002c0014t0002 a0002c0016t0005 a0005c0006t0001 a0005c0006t0003 a0010c0030t0003 a0011c0029t0001 a0013c0028t0003 a0014c0027t0003 a0018c0024t0001	a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 others(62): Show a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0031 a0002c0002t0003g0039 a0002c0002t0003g0068 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0093 a0002c0002t0003g0106 a0002c0002t0003g0122 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0140 a0002c0002t0003g0161 a0002c0002t0003g0164 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0179 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0198 a0002c0002t0003g0209 a0002c0002t0005g0018 a0002c0002t0005g0048 a0002c0002t0005g0149 a0002c0002t0005g0151 a0002c0002t0005g0169 a0002c0002t0007g0011 a0002c0002t0009g0025 a0002c0002t0009g0168 a0002c0002t0013g0174 a0002c0002t0017g0061 a0002c0002t0021g0153 a0002c0002t0022g0211 a0002c0002t0023g0090 a0002c0002t0024g0172 a0002c0011t0003g0040 a0002c0014t0002g0201 a0002c0016t0005g0148 a0005c0006t0001g0028 a0005c0006t0001g0050 a0005c0006t0001g0070 a0005c0006t0001g0074 a0005c0006t0001g0108 a0005c0006t0001g0111 a0005c0006t0001g0112 a0005c0006t0001g0119 a0005c0006t0001g0125 a0005c0006t0001g0136 a0005c0006t0001g0147 a0005c0006t0001g0154 a0005c0006t0003g0124 a0005c0006t0003g0142 a0010c0030t0003g0120 a0011c0029t0001g0126 a0013c0028t0003g0089 a0014c0027t0003g0210 a0018c0024t0001g0113	136	440	0.3091	0	c.152 others(4): Show c.1525C>T	p.Gln others(4): Show p.Gln509*	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	2/2	1615/3025	1525/1638	509/545		chr3	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.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 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 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.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.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 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0013c0015 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0005t0042 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0022 a0002c0002t0031 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0004c0004t0009 a0005c0006t0041 a0006c0007t0061 a0006c0007t0062 a0007c0008t0012 a0007c0008t0023 a0008c0010t0012 a0009c0011t0023 a0010c0012t0060 a0011c0013t0001 a0012c0014t0033 a0013c0015t0001 a0014c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(317): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0059 a0001c0001t0004g0116 a0001c0001t0004g0167 a0001c0001t0004g0206 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0001t0005g0054 a0001c0001t0005g0171 a0001c0001t0005g0210 a0001c0001t0005g0215 a0001c0001t0005g0229 a0001c0001t0005g0238 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0007g0002 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0071 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0103 a0001c0001t0007g0120 a0001c0001t0007g0158 a0001c0001t0007g0204 a0001c0001t0007g0209 a0001c0001t0008g0001 a0001c0001t0008g0023 a0001c0001t0008g0038 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0008g0228 a0001c0001t0008g0232 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0009g0001 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0207 a0001c0001t0009g0216 a0001c0001t0009g0222 a0001c0001t0011g0007 a0001c0001t0011g0075 a0001c0001t0011g0180 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0012g0001 a0001c0001t0012g0019 a0001c0001t0012g0023 a0001c0001t0012g0036 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0013g0009 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0095 a0001c0001t0014g0046 a0001c0001t0014g0074 a0001c0001t0014g0080 a0001c0001t0014g0176 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0189 a0001c0001t0014g0237 a0001c0001t0016g0002 a0001c0001t0016g0004 a0001c0001t0016g0008 a0001c0001t0016g0030 a0001c0001t0016g0172 a0001c0001t0016g0184 a0001c0001t0016g0191 a0001c0001t0019g0081 a0001c0001t0020g0004 a0001c0001t0020g0045 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0020g0174 a0001c0001t0020g0182 a0001c0001t0023g0220 a0001c0001t0023g0221 a0001c0001t0023g0230 a0001c0001t0024g0023 a0001c0001t0024g0054 a0001c0001t0024g0076 a0001c0001t0024g0208 a0001c0001t0024g0211 a0001c0001t0025g0006 a0001c0001t0025g0135 a0001c0001t0025g0137 a0001c0001t0025g0145 a0001c0001t0025g0151 a0001c0001t0026g0193 a0001c0001t0028g0005 a0001c0001t0028g0084 a0001c0001t0028g0089 a0001c0001t0028g0094 a0001c0001t0029g0005 a0001c0001t0029g0091 a0001c0001t0030g0006 a0001c0001t0030g0013 a0001c0001t0030g0150 a0001c0001t0030g0169 a0001c0001t0033g0060 a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0037g0085 a0001c0001t0037g0096 a0001c0001t0038g0005 a0001c0001t0038g0009 a0001c0001t0043g0248 a0001c0001t0043g0250 a0001c0001t0044g0003 a0001c0001t0047g0241 a0001c0001t0048g0056 a0001c0001t0049g0056 a0001c0001t0050g0001 a0001c0001t0051g0212 a0001c0001t0052g0097 a0001c0001t0053g0086 a0001c0001t0054g0072 a0001c0001t0056g0049 a0001c0001t0057g0166 a0001c0001t0058g0058 a0001c0001t0059g0058 a0001c0001t0063g0246 a0001c0001t0064g0083 a0001c0001t0065g0251 a0001c0001t0066g0249 a0001c0001t0067g0247 a0001c0005t0042g0194 a0001c0005t0042g0195 a0002c0002t0010g0064 a0002c0002t0010g0065 a0002c0002t0010g0066 a0002c0002t0010g0276 a0002c0002t0010g0278 a0002c0002t0010g0280 a0002c0002t0010g0281 a0002c0002t0010g0290 a0002c0002t0010g0292 a0002c0002t0010g0293 a0002c0002t0010g0294 a0002c0002t0015g0027 a0002c0002t0015g0277 a0002c0002t0015g0285 a0002c0002t0015g0286 a0002c0002t0015g0287 a0002c0002t0015g0289 a0002c0002t0015g0296 a0002c0002t0017g0033 a0002c0002t0017g0034 a0002c0002t0017g0035 a0002c0002t0017g0114 a0002c0002t0022g0065 a0002c0002t0022g0282 a0002c0002t0022g0283 a0002c0002t0022g0284 a0002c0002t0022g0295 a0002c0002t0031g0027 a0002c0002t0031g0288 a0002c0002t0031g0291 a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201 a0004c0004t0009g0063 a0004c0004t0009g0279 a0005c0006t0041g0031 a0006c0007t0061g0197 a0006c0007t0062g0196 a0007c0008t0012g0001 a0007c0008t0023g0224 a0008c0010t0012g0001 a0009c0011t0023g0205 a0010c0012t0060g0243 a0011c0013t0001g0002 a0012c0014t0033g0245 a0013c0015t0001g0102 a0014c0009t0001g0124	412	448	0.9196	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP2D6_chr22_42121499_42135810	42123231	GCCTCTGC others(12145): Show GCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTA GCTGGGATTACAGGCACCCACCACCACGCCCAGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACATCTG ACCTCAGGTGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCCTGCCCAGCCCAATTATAGATTTTTTAGGTTTAGGTGTT GACAGTAGCTCTCACCTCAGCCTGTTCTCTCTCCTTGTCATGCAGCCCAC AGGGGAGATGGTCAGGCCAGTGTGGGGGCTAATGAATAAATGCTACACTG TGCCCACTCAGGTGGGTAAGGGCTGGCACTCCTCTTCCCCTGGAGTGGGG CGGCTGTGCTGGCACCCTTGGCAGACACAGTAAGGGGGACTGCACCTGGA AAGGATGGGCCAGTCGGGGCAGGACTACTCATCACTCATAGTGTGGGTGT CAGGGTTGTGTCACCCCTCCCACCTCCCTCTGCAGAGACGCAAAGTCAAG AGTAGGAAGAAGCCAACCTCTGAGGTAAGGCTTCCCCTGGAAGGCCCAGG GCTGGGGCTCTCTCCTTTCAGAGCTCAGTTAGACCCAGACACACGGCAGG GAGTCCCAAGGGTAGTGGCAGGCCCCCTCCAGGAAACTCACAAGGTTACC ACAGCTCAACTGAAAAGGAAGAACTTCCCAGGACTGTGACACCCCAGTGT GAGAACAGGAGGATGAGGTGCTCTGAAGGCCTTTCTGCCCAGTCTGCCCT CTTATTCCTCCTGCAGGTCACGACCCCCAGGAGACCTGGAGGACTGAATG CTGCTGCCCCCAAGGAGGAGGCTGCCGTCTTATCCCAGGAGGGAGAGCAG GTGAAGTCCCCAGGGGAGGAAGCACCTAGCCCCATTCCTGCTGAGCAGGA GGTGGCAGGTACCCCAGACTGGGAGGTAAGGACAGCCCGGGGCTTCGACT GAACGTCTCCAGCGTGGGTCCAACTGAGCAGCCATGGAGCACTGCAGAGT GGGAGGCAGCAGGGCAGGGAGGCAGTGCTGGAGGCTGGCTCAACCCCAAG ACCAGCAGGCCAAGCTGCCATCCCAGGGGAGCGAGGACGTCTGTGCAGAG CTGAGAGGCAGCAGCCATGTGTGAACAGACTGGGCCTCATCCTGGCCCCA CCGACTTTGTGTGGACAGAGCCTGTTTCCCTGTCTGTGCAACACAGAACC TGCCTGATCTCACTGCTGGATCCCTCTTCTTCCTGCCAGGAAAATAAAAA GGTTCAAAAGGAAGTTGCTGCGTATCCATCTGGTAAGACCACTGACCCAG CGTGCTGCAGGGGGCTGCTTCCACCCTGCTTCTCAGTGACTGCCAGGGTC ACAGACACCCCAGCCCTTTCCCACCTTCCTGACCTGGGGAGGGGAGGGGA GGGAAGCAGCCCAGGAGTCAGGTGCCTTGACCTTCCTGGGAGCCTCCTTG GGTGGGCAGGAACTCTGGGCCACTCCCCTGAGCTGGCTGCATCCCTACCT TTCACCACAGCTGACCTGGCCCCGGGGCATCTCAGAGGGAGGGTTGGTTG CTCCCAGGAGGGGACTCACAAGGCTGCCTGTTTCTACTTTGCAGAGGCCT CTGAGGACAGCAAAGAGCAAAGGCCCTGGGACCGGGTCTACGTGCCCATG ACAGAGCTCTGGCTGGACTGGTTCTGAGCCTCTAACACCCCCAAGACTCA GAACCGTGAAGAAAATCTTTCCAATAAATCCAAGAGTTGCTGCTGCTATA GGCCAGGCTGCCACCTTTCGGGGCCTCCGTCTTCAGACAAACCCAGCCTG GCTTCATCCACACTCCCTGTCCCCACAGCTGCAGGAACAGCACTTCCTGC CACCGAGCCGTGTGACCACAGTGGATTGTCTCTGGAGGGGCCCAAGGGGG CCCTGGCCACCCTTCTGACTGACTCGGTGCCAGGGGACAGACCAACGTCC CTCTCGTGCTGACAGCCGGGCCGCACCCTGGCATGAGGGCATTTACAGAA ATGCTGGCGGAACTGCTGCCAGGGAGGCTGTAGGGTCCTCTGGCAAAAGA GGCCTCAGGTGGCTCCTCAGAGTGTCTGTGGTTCTCTGTCCCAGGCTGTT CCCTAAGAAGGTCTGCCCAGGACTCAGGTAATCATATGCTCATTAGAAAC TCTTGGGCACTGCCTGTGTGCCCAGCCCAGCCCATTATGTCGGTGAGGAC AGACGTGGAGGACAGCAGTCCCTGCCCTTGGTTGGGGCTCCAGGCCAGCA AGGGCCACAGCCCCAGAAGGCAGAGCAGGAAGACAGGACTCGGGGCAGGT GAAGCAGCCTTCTCGTTGGCAGAAGGGAAACAGAAGCCCGGGGTGGGGAA GGGTGGGGAAGGGTGGGGAAGGGTGGGCCCGGGGTCACACGGGGTAATGG CAGAGCAAGGACTAGGGTCAGGGTCTCTGGCTCTCAGCTGCCCATGCCAC CTCCTCCTTCTCTGCCCGCCCCAGTGCCTTATGGGTCCAAGGTTGACTCC TGTCCCTAGGGCAGGCCTGTGGGCCCTGCCTGATCCCTACTGGGAGGATG GTACCTAGGGTTGGAGCCAAACAAGTGTCCTCCTCCAGCGCCAGCCTGGC CCTGAGTGCGAACTCGTCACTGGTCAGGGGTCTGTACAGCAGCATCCCTG AGGGCCCAGAGAGGTAGCCAGTCCTGTGGTGAGGTGACGAGGCTGAGGGT GGTGGCTCAGTCCTGGGCTTCCATGGGGCCTTCCCAGGGAACGTTCTGGC ACCTGCCGACTGAGCCCTGGGAGGTAGGTAGCCCTGGCATATAGCTCCCT GACGCCATGATTTGTCTTCCGTTTTGGGGTGTCATATATGAAGGGAGGTG ACTGTTGTGATGGTGCTGGCAGGACTGCTGTCCCTGATGTGGGGTGGGCT GAGTTAGGCCTGAAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACC ACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCC CACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTT GGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTC AGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAG GAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGC GTGAGCAGGGGACCCGAGTTGGAACTACCACATTGCTTTATTGTACATTA GAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGG GGCACAGCACAAAGCTCATAGGGGGATGGGCTCACCAGGAAAGCAAAGAC ACCATGGTGGCTGGGCCGGGGCTGTCCAGTGGGCACCGAGAAGCTGAAGT GCTGCAGCAGGGAGGTGAAGAAGAGGAAGAGCTCCATGCGGGCCAGGGGC TCCCCGAGGCATGCACGGCGGCCTGTGGGGAGGGGAGGGGCGTCAGTGAG CCTGGCTCCTGGGTGATACCCCTGCAAGACTCCACGGAAGGGGACAGGGA GCCGGGCTCCCCACAGGCACCTGCTGAGAAAGGCAGGAAGGCCTCCGGCT TCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAG GGCTTCTCCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGAT GAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACT CTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCC TGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCAC AGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCA CCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGC AGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCA GCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGG TGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCA GTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGG AGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCA CGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTG CACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCA TCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACA CGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCC GGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACA GGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTC ATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCA GATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCC AGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCC ACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTT GGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCA AATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGA TGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGC TCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTTCTCC ATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTC CCAGGTCATCCTGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAG CCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGG ACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCC TCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCA GGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTC CCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAA ATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTG GTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCC CCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTC CCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCC GGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCG CACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGT CCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAG GTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGG GCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCC CCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCC ACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCA CCCACTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGAC ACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAA CACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGC CCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCA GTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCAC CTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCAC CCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCA CACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGG ATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTC TCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGC TCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCT GGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTA CGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGC TGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCAC AGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCA CGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGG CTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGC CTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGA ACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAG ACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGAT GGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCA CCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTC CATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAAAAGGTTTGAA CCGGGTCACTGCACCCCCTTCATCCTCGATTTCGTGATTTAAACGGCACT CAGGACTAACTCATCTTCCATTCCCAAGGCCTTTCCTTCTGGTGTCAGCA GAAGGGACTTTGTACTCCATAACATATGTTGCCCAATGGGCTTGCATGCC CACTGCCAAGTCCAGCTCCACCTCCAGGCCCTTGCCCTACTCTTCCTTGG CCTTTGGAAAATCCAGTCCTTCATGCCATGTATAAATGCCCTTCTCCAGG ACGTCCCCCAAACCTGCTTCCCCTTCTCAGCCTGGCTTCTGGTCCAGCCT GTGGTTTCACCCACCATCCATGTTTGCTTCTGGTAGGGGAGCCTCAGCAC CTCTGCCGCCCTCCAGGACCTCCTCCCTCACCTGGTCGAAGCAGTATGGT GTGTTCTGGAAGTCCACATGCAGCAGGTTGCCCAGCCCGGGCAGTGGCAG GGGGCCTGGTGGGTAGCGTGCAGCCCAGCGTTGGCGCCGGTGCATCAGGT CCACCAGGAGCAGGAAGATGGCCACTATCACGGCCAGGGGCACCAGTGCT TCTAGCCCCATACCTGCCTCACTACCAAATGGGCTCCTCTGGACACACCT GGCACCCCCACCCCACCAGGCACAGAGGACCAGGCAGGACACTCTCAGCA CACCGAGCGCGTGACCCTTCCCTTATAAAGGGAGCTGATGATGGCCTTTG CCCTCTGCTGTGAGTGAACCTGCTGTGTTGACTGTGCTGCCAGTGGCAGA GTCAGGCCAGGGCGGGTATGGGCTGCTCCAGAGGTTCTTGCCCCTGCTTC CTGCTCCAGGCCCTTACCCAGGGTAGGCCGGTGGAGGGGCCTGGTCGGAG AAGTCACCCCCTCTCCCCACTCCAAGCTCCTGAAGCCTGCAAAGCCTTCT GGGATAACCAGGGTTTCAGTGGACCCGGCCATCCACCTCCCAGCTAGGCT CATACACCCTAATGTAGTCACAACCCCTCCTCCAGAACATGGCCTTGCCC TTTCCCTACCCCCACCTGCCCACTCCAGAGTGACCTTCAGCACCCTTATC TGTCACTGGCACTTACCTGGGGCCTTAGAGCTCCTGATGATGAGTGGCAT CATGGGCCTGGTCCCTTCACTTCACCTTGCACTCTTGACATGCACAGACG CTATGCACACACCTGATGGTGCACAGATCTCTTGTCCACTCCCAGACACT TGTCCACTTGTTCACACTTGCAGGGACACGATTACACACGCAGAAAATCA CCCACACAAAGACAATATTCACACATACACAGACTCACACTGACACTTAG GGCACACATTCTCTCTCACACACACCAGTCACACACACATACAGACCCGG CACCAAGTACCCCACTTCCCAGCCATGCCGGAGGTTTCCTGGATGGGACC ACTCCTGTCCAGAGGCTGCTCCCAGCCCAGCCCACATTCCTGGGCTCTGG CCGGGCTATGGCTTCTTGTTTGCAACAGGGCTGTTCCCAGAGCTCCCAGT TGGTAGCCGGAAGGCCCTTGCCCCAGCCTGTGACAACATCCTCCCGGGCT GCCTGAGGGTCGTCCTCCTCCACTGCTTTCTGGCCTCCATGTTTCTGATT AGAAATCTGGTGGGAACGTTATGGAGGATCCTTTGTTCAGGATATGTTGC TTTATTTTTTTTTTCTTTAGACAGGGTCTCACTCTGTTGCCCAGGCCGGA GTGCAGTGGCAGGATCATGGCTCACTGCAGTCTCGACATCAAGTGGACCC CCTGCCTCCCAAGTAGCTGGGACTACAGGCACCACCCAGCCTAATTCTTT TTTTTTTTTTTTTTTTTTTGGAGACGGAGATTTCCTCTTGTTGCCCAGGC TGGTGGCTCCCCTCCATTGTGCAATGATGCAATCTCGGCTCACTACAACC TTCACCTCTAGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCT GGGATTACAGGTGTGTGCCACCACGTCTAGCTTTTTGTATTTTCAGTAGA GATAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACTTCAG GTGATCCACCCACCTCAGGCTCCCAAAGTGCTGGGATTATAGGCATGAGC CACCGCACCCAATCCCAGCTAATTTTGTATTTTTTGTAGAGACCGGGTTC TTCCAAGTTGTCCAGGCTGGTCTTGAATTCCTGGGGTGAAGCGATCCTCC CACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGTGACT ACCTGATACGTCTCTTCTCTCTTGCTGCTTTCAAAATCCTGTCTTTTGTG GGAGGGCAGCTGCCGAGCTCTGGACTTCTACGGGATCATCCACTGAGGAC AGGAGGACCGGGCCCTCTACAGGTGGATTGTATGGCAGCTGCCATGCTTG GAGCCAGTGCTCACCGAGCACGTGGCGGCTGTGGAGCTGGACGCGGGGTT GATAAGTCCGCTGGGGGTGACGGGCTCATCCATGAGTGGTACTTGATGTG GCTGCAGAAGGCGGATGTGGTGGTGGCAGAAGTGACACAACTGTCCCTGG GTATAGGCTATGATCTGTGCCAGGCCACAGCCCTCAATAAGTGAATCCTG TGCCTGCTCCAGCCGCAGTCTGGTGGAGTGCTGTCGGCCATGATCTGGGA AGAGGCAGATGGCTCTGGGTTCCAGGTGTGGGACTACGGAGAGGGACAGG TGGAGGCCCTGCTGCATGGATAGGTTGAGGCTGATCCTCCCGAGCAGGTT GCCTCCCCTAACCCAACCATTGGACCTAATCCCATTTTATTAAATTCTTC TCATCCCAGACACTGCTCTAGTACCAGTCCTGGCTCTTTGCCCCAGGAGC AAATTAAAAGGTACATTTAAAATTCTAAAAAAAGAAAAATCTGTCTTTTG ACAGTGATTATGATGATGCGTATGGCTGAAGATCTCTTTGAGTTTACCCT ACTTGGAGTTTGATGAGCTTTTTGGATGTACAGATTAATATTTTTCATCA GATTTGGGAGGTTTTTCAGCCATTAATTCTTCAACTATTCCTTTACTCCT TTCTCCCTGTCTTCTTTCCTGGGACTCCCATTGCGTGTATGTCGGAAAGC TTGACGGCGTCTCCAGGTCTCTGGATCTCTGTGCATTGCTCTTCATGCTT GTTCCTGTTCCTCAGAGGGTACTACCTCAGGTGGCCTCTCTCCATAGTCA CAGGCTCTTTCTTCCAATTGTTCCAATCTGCTCTTGGGCCCCTGGGATGA ATTTTCATTTATTTTACCCTACAACTCCAGAATTTTTATTTGGTTCCTTT TTAAACTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGGAGTATCGCT CTGTCACCCAGGCTGTAGTGCAGTGGTGCAATCTCGGCTCACTGCAATCT CTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCACGTGCCACCACGCCCGGCTAATTTTTGTATTTTAAGTA GAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCTTGACCTC ATGATATGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGC CACCATGCCCAGCCCCTTTTTATAAGGTTCATCCCATTATTGATATTCTC TAATTGGTGAGACATTGTTCCCACACTTTCGTTAGTTCTTTTGACATGGT TCTTTTCTTTTTCTTGGGAGAGGGTCTCTCTGTCGCCCAAGCTGGAGTGC AGTGATGCAGTCATGGCTCACTGCAGCCTCAACTTCCTGGGCTGAAGTGA TCCTCCTACCTCAGCATCCTGAGAGGCTGGGACCATAGGCAGCCAGCTAA TTTTTTAAATTTTTTTGTAGAGATGGGGGTCTCACCACATTTCCCAAGCT GCTCTCAAACTCCTGGGCTCAAGCAATCCACGGGCCTCAGCTTCCCAGAG TGCTAGGATTATAGGTGTGAGCCACTGCACCAGGCCTACACGTGGTTTCT CCCTTTGAAGTACTAGCCAGGCCTGACCATGCTTAGCTTCCGAGATCAGC AGGTTCCAGCCGGTGCAGCCTCAGATGCAGCATGTTTTAGGTCTTTGAAC ATATTTAAATGAGCTGACTGAACGTCTTTGTCTAGCAATTGCAGCATCGG GCTGGTCCCATTGGTGACTTTTCCCGTGTCTGGGTCGTCCTTTCGGTTTC CTTTCCATGTCTCATAATTTGTTAAAACCTGGACATTTCACGGGCGATAA TGTGGCAACTCCGGAAGTCAGATTCTCTTCCCTGCCAAGGATGTGTTGTT GTTGTTGCCTGTTGGAGCTGTTTCTTTGCTGGGTGACTTTTCTGAACTAA TTCTGACTAAGCATTAATGTCTCCATTCCCTGCGAGCTGTGGCCACTGAA GCCGCTCTTCAGTTACGGCAGTGGTCAGCTAATGACTGGTCAGAGAGTTC CTTAGGTGCCTGGAAGCGAAGTCTTTGCCGAGTGGGTCTCTCTCTGTGTG CCGGGCGTGGCTTCAGTGCTCGGCTAGGCAGTGCTCAACTTTCCCTTAGC CGTCACCTGCTGTCTGCACAGCACCTCAGGTCAGTCACGTGTGAGGGCTC AGGGCCTTGCCGGCCTTCCTGAATATGGGCACAGCTGCAGACAGCCTTAC CCACGTGCAGGGCACCTAGATTCCCAAGAAGGGGCAAGAGCTGTTCAAAA CCACTACAAGCTGGACATGGTGGCTCACACCTGTAGTGTCAGTGACTCAG AAGGCTGTAATGGGAGGATGACTTGAGGCCAGGAGTTTGAGACCTAGCAA GACCCCATCCCCCACCCAAAAAAACAAAAACAACAAAAACTCACTGTGGA CCGCTCATGCCCCAGCTGCTGCTTTTTAACCCCAGCTGTTATCCATCACC ACAGGCAGCTTCGATTTTCAATCATGGATCTGATGACTTTCAACAAACTT TCCTGAGGAAAGTGCTGTTCTCACCAGAAGAGATCTCAGGACAAATGTAG ACAGCCCTGGCAAGTGGGGTCTCCCTGGGAGCTAGCAGACAGGTGAAAGA CTGACAGTTCTTGGGGAATTAGGCTTTTCTTTTGTTTTGGAGATGGCGTT TCATACTTATCACCCAGACTGGAGTGCAATGGTGTGATCTCGGCTCACTG CAA	G G	transcript_ablation transcript_ablation	HIGH	HG00621.hp2 HG01069.hp1 HG01192.hp2 others(11): Show HG00621.hp2 HG01069.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG02145.hp1 HG02523.hp1 HG02602.hp2 HG03225.hp1 HG03239.hp2 NA18945.hp1 NA18974.hp1 NA18997.hp1 NA20129.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	14	417	0.0336	-12152	c.-45 others(11): Show c.-4592_*3342del	p.0? p.0?	CYP2D6	ENSG00000100197.23	transcript	ENST00000645361.2	protein_coding	7/9					chr22	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0103 others(37): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0103 a0003c0003t0001g0113 a0003c0003t0001g0123 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0138 a0003c0003t0001g0169 a0003c0003t0001g0175 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0121 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0215 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0018t0003g0007 a0003c0019t0003g0214	69	400	0.1725	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
DCAF12L1_chrX_126544383_126557814	126551345	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA18997.hp1 NA18997.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	284	0.0035	-1	c.126 others(5): Show c.1263delT	p.Phe others(5): Show p.Phe421fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1469/3345	1263/1392	421/463		chrX	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0005c0006 a0006c0013 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 a0001c0003t0034 a0001c0012t0007 a0005c0006t0001 a0006c0013t0003 a0007c0011t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(28): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0003t0023g0000 a0001c0003t0034g0000 a0001c0012t0007g0000 a0005c0006t0001g0000 a0006c0013t0003g0000 a0007c0011t0001g0000	268	456	0.5877	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0019 others(3): Show a0002 a0006 a0019 a0020 a0024 a0025	a0002c0002 a0002c0005 a0002c0027 others(7): Show a0002c0002 a0002c0005 a0002c0027 a0002c0028 a0006c0007 a0006c0021 a0019c0030 a0020c0035 a0024c0023 a0025c0036	a0002c0002t0001 a0002c0005t0001 a0002c0027t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0027t0001 a0002c0028t0001 a0006c0007t0001 a0006c0021t0001 a0019c0030t0001 a0020c0035t0001 a0024c0023t0001 a0025c0036t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 others(59): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0090 a0002c0002t0001g0100 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0202 a0002c0005t0001g0002 a0002c0005t0001g0007 a0002c0005t0001g0015 a0002c0005t0001g0029 a0002c0005t0001g0188 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0200 a0002c0027t0001g0168 a0002c0028t0001g0081 a0006c0007t0001g0018 a0006c0007t0001g0025 a0006c0007t0001g0108 a0006c0007t0001g0150 a0006c0007t0001g0152 a0006c0007t0001g0160 a0006c0007t0001g0163 a0006c0021t0001g0112 a0006c0021t0001g0165 a0019c0030t0001g0201 a0020c0035t0001g0003 a0024c0023t0001g0098 a0025c0036t0001g0007	132	436	0.3028	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	385	0.2883	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX29_chr5_55251055_55312694	55289357	T T	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0261 a0006c0017t0001g0261	1	340	0.0029	0	c.979 others(3): Show c.979A>T	p.Lys others(4): Show p.Lys327*	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	8/27	1100/4664	979/4110	327/1369		chr5	TogoVar
DHX29_chr5_55251055_55312694	55289363	C C	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0261 a0006c0017t0001g0261	1	340	0.0029	0	c.973 others(3): Show c.973G>T	p.Glu others(4): Show p.Glu325*	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	8/27	1094/4664	973/4110	325/1369		chr5	TogoVar
DMGDH_chr5_78992564_79074674	79044442	G G	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0173 a0006c0016t0001g0173	1	372	0.0027	0	c.856 others(3): Show c.856C>T	p.Arg others(4): Show p.Arg286*	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	6/16	910/3173	856/2601	286/866		chr5	TogoVar
ELF4_chrX_130058955_130115497	130066757	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.195 others(5): Show c.1955dupC	p.Thr others(5): Show p.Thr653fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2337/5140	1955/1992	652/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130066766	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	-1	c.194 others(5): Show c.1946delC	p.Pro others(5): Show p.Pro649fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2328/5140	1946/1992	649/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130066792	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.192 others(5): Show c.1920dupA	p.Ser others(5): Show p.Ser641fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2302/5140	1920/1992	640/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130066888	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.182 others(5): Show c.1824dupG	p.Leu others(5): Show p.Leu609fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2206/5140	1824/1992	608/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130066952	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.176 others(5): Show c.1760dupG	p.Ser others(5): Show p.Ser588fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2142/5140	1760/1992	587/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130066959	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.175 others(5): Show c.1753dupT	p.Ser others(5): Show p.Ser585fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2135/5140	1753/1992	585/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130067179	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	-1	c.153 others(5): Show c.1533delG	p.Ser others(5): Show p.Ser513fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	1915/5140	1533/1992	511/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130067250	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.146 others(5): Show c.1462dupC	p.Gln others(5): Show p.Gln488fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	1844/5140	1462/1992	488/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130067452	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.126 others(5): Show c.1260dupG	p.Thr others(5): Show p.Thr421fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	1642/5140	1260/1992	420/663		chrX	TogoVar
ELF4_chrX_130058955_130115497	130067476	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	1	c.123 others(5): Show c.1236dupG	p.Ser others(5): Show p.Ser413fs	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	1618/5140	1236/1992	412/663		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31071512	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show HG00408.hp2 HG00544.hp2 HG02165.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18952.hp1 NA18964.hp1 NA18965.hp1 NA18975.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0004 a0004c0006 others(1): Show a0002c0003 a0002c0004 a0004c0006 a0006c0007	a0002c0003t0001 a0002c0004t0001 a0004c0006t0001 others(1): Show a0002c0003t0001 a0002c0004t0001 a0004c0006t0001 a0006c0007t0001	a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0006t0001g0000 others(1): Show a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0006t0001g0000 a0006c0007t0001g0000	37	336	0.1101	0	c.442 others(3): Show c.442G>T	p.Glu others(4): Show p.Glu148*	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding	1/1	530/809	442/552	148/183		chrX	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0209 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0158 a0002c0002t0004g0183 a0002c0002t0004g0201 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0167 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0159 a0002c0014t0003g0166 a0002c0017t0001g0076 a0002c0021t0001g0176 a0002c0022t0001g0178 a0005c0011t0001g0077 a0005c0011t0001g0078	148	430	0.3442	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574		chr22	TogoVar
GDPD4_chr11_77211558_77306686	77243743	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0010	a0003c0003 a0004c0004 a0006c0006 others(1): Show a0003c0003 a0004c0004 a0006c0006 a0010c0010	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0004c0004t0006 a0006c0006t0006 a0010c0010t0003	a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0342 a0003c0003t0003g0009 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0009g0036 a0003c0003t0009g0061 a0003c0003t0012g0070 a0004c0004t0006g0204 a0004c0004t0006g0205 a0004c0004t0006g0208 a0006c0006t0006g0206 a0006c0006t0006g0207 a0010c0010t0003g0086	84	350	0.2400	1	c.119 others(5): Show c.1191dupT	p.Ile others(5): Show p.Ile398fs	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/17	1526/2617	1191/1563	397/520		chr11	TogoVar
GFPT2_chr5_180295698_180358336	180316994	CATAGTAT others(3): Show CATAGTATTGA	C C	frameshift_variant frameshift_variant	HIGH	NA18997.hp1 NA18997.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0003 a0006c0016t0003	a0006c0016t0003g0063 a0006c0016t0003g0063	1	412	0.0024	-10	c.101 others(19): Show c.1013_1022delTCAATACTAT	p.Phe others(5): Show p.Phe338fs	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	11/19	1141/3034	1013/2049	338/682		chr5	TogoVar
GNPDA1_chr5_141995671_142018027	142002080	T T	TTCTTTGA others(6): Show TTCTTTGATAGTAC	frameshift_variant frameshift_variant	HIGH	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0068 a0003c0005t0001g0068	1	423	0.0024	13	c.818 others(20): Show c.818_819insGTACTATCAAAGA	p.Glu others(5): Show p.Glu274fs	GNPDA1	ENSG00000113552.16	transcript	ENST00000311337.11	protein_coding	7/7	857/2267	818/870	273/289		chr5	TogoVar

Search by Variant

Search

Search Results (Total: 185 hits)