Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results 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
ABCB5_chr7_20610667_20762008	20626612	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(68): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(11): Show a0002 a0003 a0005 a0008 a0011 a0013 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046	a0002c0003 a0003c0002 a0003c0010 others(14): Show a0002c0003 a0003c0002 a0003c0010 a0005c0015 a0008c0009 a0008c0027 a0011c0017 a0013c0022 a0013c0023 a0039c0058 a0040c0050 a0041c0055 a0042c0052 a0043c0054 a0044c0056 a0045c0051 a0046c0057	a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 others(20): Show a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0005c0015t0004 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0011c0017t0007 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0039c0058t0001 a0040c0050t0001 a0041c0055t0001 a0042c0052t0002 a0043c0054t0001 a0044c0056t0001 a0045c0051t0001 a0046c0057t0008	a0002c0003t0001g0349 a0003c0002t0001g0117 a0003c0002t0001g0137 others(68): Show a0002c0003t0001g0349 a0003c0002t0001g0117 a0003c0002t0001g0137 a0003c0002t0001g0192 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0001g0201 a0003c0002t0001g0204 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0218 a0003c0002t0001g0223 a0003c0002t0001g0224 a0003c0002t0001g0227 a0003c0002t0001g0229 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0312 a0003c0002t0001g0315 a0003c0002t0001g0321 a0003c0002t0001g0322 a0003c0002t0001g0326 a0003c0002t0001g0338 a0003c0002t0002g0191 a0003c0002t0002g0212 a0003c0002t0002g0225 a0003c0002t0002g0323 a0003c0002t0015g0318 a0003c0010t0001g0131 a0003c0010t0001g0203 a0003c0010t0001g0240 a0003c0010t0001g0317 a0003c0010t0001g0327 a0003c0010t0002g0193 a0003c0010t0002g0226 a0003c0010t0002g0316 a0003c0010t0002g0328 a0005c0015t0004g0310 a0008c0009t0001g0199 a0008c0009t0001g0206 a0008c0009t0001g0216 a0008c0009t0001g0221 a0008c0009t0001g0228 a0008c0009t0001g0230 a0008c0009t0001g0350 a0008c0009t0002g0211 a0008c0009t0002g0215 a0008c0009t0002g0222 a0008c0027t0001g0324 a0008c0027t0002g0314 a0011c0017t0007g0052 a0013c0022t0001g0217 a0013c0022t0021g0202 a0013c0023t0001g0213 a0013c0023t0001g0219 a0013c0023t0001g0220 a0039c0058t0001g0325 a0040c0050t0001g0313 a0041c0055t0001g0238 a0042c0052t0002g0239 a0043c0054t0001g0205 a0044c0056t0001g0200 a0045c0051t0001g0214 a0046c0057t0008g0237	71	360	0.1972	0	c.108 others(5): Show c.108+1G>C		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/27					chr7	TogoVar
ABHD16B_chr20_63856498_63867988	63862607	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show HG00597.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG03453.hp1 NA18950.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19011.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19090.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0016 a0006c0007 a0003c0003 a0003c0016 a0006c0007	a0003c0003t0001 a0003c0016t0001 a0006c0007t0001 a0003c0003t0001 a0003c0016t0001 a0006c0007t0001	a0003c0003t0001g0000 a0003c0016t0001g0000 a0006c0007t0001g0000 a0003c0003t0001g0000 a0003c0016t0001g0000 a0006c0007t0001g0000	18	398	0.0452	1	c.107 others(5): Show c.1071dupC	p.Val others(5): Show p.Val358fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1115/1491	1072/1410	358/469	INFO_REALIGN_3_PRIME	chr20	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
ADGRA2_chr8_37791883_37849896	37841784	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00673.hp1 HG01192.hp1 others(10): Show HG00408.hp2 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG02071.hp2 HG02738.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18978.hp2 NA18980.hp1 NA19082.hp1 NA19086.hp2	a0004 a0008 a0015 others(1): Show a0004 a0008 a0015 a0016	a0004c0011 a0004c0015 a0008c0019 others(4): Show a0004c0011 a0004c0015 a0008c0019 a0008c0033 a0008c0040 a0015c0034 a0016c0035	a0004c0011t0001 a0004c0015t0001 a0008c0019t0001 others(4): Show a0004c0011t0001 a0004c0015t0001 a0008c0019t0001 a0008c0033t0001 a0008c0040t0001 a0015c0034t0001 a0016c0035t0001	a0004c0011t0001g0041 a0004c0011t0001g0073 a0004c0011t0001g0306 others(10): Show a0004c0011t0001g0041 a0004c0011t0001g0073 a0004c0011t0001g0306 a0004c0011t0001g0360 a0004c0015t0001g0014 a0004c0015t0001g0214 a0004c0015t0001g0343 a0008c0019t0001g0065 a0008c0019t0001g0310 a0008c0033t0001g0138 a0008c0040t0001g0105 a0015c0034t0001g0207 a0016c0035t0001g0057	13	370	0.0351	1	c.345 others(5): Show c.3451dupG	p.Ala others(6): Show p.Ala1151fs	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3838/6944	3452/4017	1151/1338	INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRV1_chr5_90553797_91169437	90756446	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show HG00621.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18980.hp2 NA18990.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19082.hp1 NA20300.hp1	a0002 a0005 a0012 others(16): Show a0002 a0005 a0012 a0013 a0018 a0031 a0033 a0040 a0044 a0047 a0048 a0052 a0053 a0059 a0060 a0064 a0066 a0069 a0073	a0002c0001 a0002c0008 a0005c0006 others(19): Show a0002c0001 a0002c0008 a0005c0006 a0012c0011 a0013c0065 a0013c0066 a0018c0047 a0018c0052 a0031c0076 a0033c0099 a0040c0085 a0044c0074 a0047c0061 a0048c0062 a0052c0064 a0053c0059 a0059c0053 a0060c0048 a0064c0043 a0066c0080 a0069c0032 a0073c0097	a0002c0001t0001 a0002c0001t0002 a0002c0008t0001 others(20): Show a0002c0001t0001 a0002c0001t0002 a0002c0008t0001 a0005c0006t0002 a0012c0011t0001 a0013c0065t0002 a0013c0066t0003 a0018c0047t0003 a0018c0052t0003 a0031c0076t0001 a0033c0099t0001 a0040c0085t0002 a0044c0074t0003 a0047c0061t0001 a0048c0062t0001 a0052c0064t0001 a0053c0059t0001 a0059c0053t0001 a0060c0048t0003 a0064c0043t0001 a0066c0080t0001 a0069c0032t0001 a0073c0097t0001	a0002c0001t0001g0016 a0002c0001t0001g0018 a0002c0001t0001g0029 others(41): Show a0002c0001t0001g0016 a0002c0001t0001g0018 a0002c0001t0001g0029 a0002c0001t0001g0031 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0045 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0051 a0002c0001t0001g0061 a0002c0001t0002g0034 a0002c0001t0002g0040 a0002c0001t0002g0049 a0002c0001t0002g0110 a0002c0001t0002g0111 a0002c0008t0001g0041 a0002c0008t0001g0107 a0002c0008t0001g0140 a0005c0006t0002g0080 a0005c0006t0002g0082 a0005c0006t0002g0088 a0005c0006t0002g0089 a0005c0006t0002g0090 a0012c0011t0001g0042 a0012c0011t0001g0043 a0013c0065t0002g0033 a0013c0066t0003g0044 a0018c0047t0003g0014 a0018c0052t0003g0007 a0031c0076t0001g0046 a0033c0099t0001g0001 a0040c0085t0002g0074 a0044c0074t0003g0157 a0047c0061t0001g0025 a0048c0062t0001g0037 a0052c0064t0001g0019 a0053c0059t0001g0059 a0059c0053t0001g0017 a0060c0048t0003g0065 a0064c0043t0001g0036 a0066c0080t0001g0013 a0069c0032t0001g0136 a0073c0097t0001g0147	44	158	0.2785	1	c.115 others(8): Show c.11581-3dupC		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	55/89				INFO_REALIGN_3_PRIME	chr5	TogoVar
AEBP1_chr7_44099345_44119560	44112970	TCTGTATC others(14): Show TCTGTATCTGTCCCCGGCCAGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0043 a0014c0016t0001g0043	1	426	0.0024	-21	c.257 others(33): Show c.2570-20_2570delCTGTATCTGTCCCCGGCCAGC	p.Thr others(5): Show p.Thr857fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	19/21		2570/3477	857/1158		chr7	TogoVar
AEBP1_chr7_44099345_44119560	44113703	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0043 a0014c0016t0001g0043	1	426	0.0024	16	c.292 others(25): Show c.2923_2924insGGGGGGGGGGGGGGGG	p.Ala others(5): Show p.Ala975fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3245/4097	2924/3477	975/1158	INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP6_chr10_49983406_50015499	49988768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 others(25): Show a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0053 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0009g0025 a0003c0003t0010g0024 a0003c0014t0003g0220 a0003c0014t0008g0026 a0003c0031t0003g0230	39	406	0.0961	1	c.55d others(3): Show c.55dupC	p.Gln others(4): Show p.Gln19fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	366/2684	56/2061	19/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50008914	CAA CAA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 others(25): Show a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0053 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0009g0025 a0003c0003t0010g0024 a0003c0014t0003g0220 a0003c0014t0008g0026 a0003c0031t0003g0230	39	406	0.0961	-2	c.791 others(9): Show c.791_792delAA	p.Lys others(5): Show p.Lys264fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1101/2684	791/2061	264/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
ALLC_chr2_3653200_3707671	3681636	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA19082.hp2 NA19082.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0180 a0009c0016t0002g0180	1	274	0.0037	0	c.301 others(3): Show c.301A>T	p.Lys others(4): Show p.Lys101*	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	6/12	458/1441	301/1176	101/391		chr2	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
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0015 a0017 a0018 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0015c0025 a0017c0023 a0018c0022 a0020c0030 a0021c0031 a0022c0032 a0023c0033 a0024c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0015c0025t0007 a0017c0023t0019 a0018c0022t0001 a0020c0030t0007 a0021c0031t0001 a0022c0032t0012 a0023c0033t0006 a0024c0020t0014	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0006g0084 a0001c0001t0006g0154 a0001c0001t0006g0196 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0017g0058 a0001c0001t0018g0123 a0001c0001t0021g0146 a0001c0019t0001g0074 a0001c0019t0001g0075 a0001c0035t0001g0070 a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0006c0015t0001g0020 a0006c0015t0001g0208 a0007c0007t0006g0004 a0007c0007t0006g0156 a0007c0007t0006g0255 a0007c0007t0006g0257 a0007c0007t0012g0256 a0007c0007t0013g0038 a0007c0007t0013g0039 a0007c0007t0014g0155 a0010c0011t0001g0158 a0010c0011t0001g0164 a0010c0011t0001g0194 a0010c0011t0001g0265 a0010c0011t0001g0293 a0013c0016t0001g0029 a0013c0016t0001g0033 a0015c0025t0007g0252 a0017c0023t0019g0190 a0018c0022t0001g0083 a0020c0030t0007g0163 a0021c0031t0001g0159 a0022c0032t0012g0195 a0023c0033t0006g0249 a0024c0020t0014g0254	142	372	0.3817	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528		chr5	TogoVar
ANKRD30B_chr18_14743172_14859667	14814633	G G	GCTCTCTT others(10879): Show GCTCTCTTACAGAATGATGTGTGTTTACCCAAGGCTACACATCAAAAAGA ATTCGATACCTTAAGTGGAAAATTAGAAGGTAAGAACCATATTTTATTTA AAAAGTCATTTGACCAAATGTTTCTCTGAACTGATGAGGAGGGATATCCC CTAATAGCTGAAGAAAATTACCTCCTGAATGCAAAGCATGGAAAAAAAGA GAAGTGAAATGGTGATAAGTTATACGTCTTATCATGTGTTGGCAGCAGAC TACATAGAGAGTGCTGGAAAGGAACTGAATTATTAGTTTGAATTCAAGGT ATTCCAAGAGCTGAGGAAAATGAGAAAATAAGAAAGGAGAAAGTAGTAAA AGAGGAAATGAAGATCGAGAAAGACAGAGAGTACAGAGAGGACGGGAAGG AACAAGAGGCAGGTTTATATAATGGAGGATGGTAAAATGAAATGATTCTT TAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGAATATAAAGTGACT TTCCAGTGCCAAAACATACCAGAGAATTACAGCAAAAATATTCTGACTCT TCCTGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGCAGCTGACC ATGGAGAGCTGTGTTCTATTTGCAATAGTTGAGAATAAGCATATATGCAC GGCCACACATGTATATAATTTGTCATATACACTCCGTATAGACCGTAAGT TTTCAAACTTTAGAAAACCGTCTGAAAACCTTGTTAACAATTCACACTGT GATTCAGCCGACTAGGGATTCTGCATTTTTAGTAAGTTGTCAGGCGATGC TGATGCTGGTGGTCGTTGGACCTTGCTCTGAGTAGCAAGATGAGAGACCT TTGTGGGAAAAAATGTGGAAGAAGGGCCATTGGGTAGAAGGTCAGGACAG AAAAGGGTCAGGAGAAAGCATTATGGTGCTCCTATTTTTGAGTATGTTTT TAGTTAGGGGAGAAGAAGAAAGGGGCAATGGAATAGAAATTGTAGATGGA AGATACTACTTCTATACAAAGAAAAAGGAAAGAGTGTGTGTTGAATGGGA AGAATCAAGAACACAAGTCTAGTGATTACTTTTGCTAAAGAAGAGAGATT ATGAGGCAGGAAGCAGGGGACAAGAGAGAAGCCAGCTAGATTATTTTGGA TTTTGTATGAAGGAAAATGGAGTGAACTCACTTCGGAAGCATTTAGAATA TTTTGACTGCAGAATGTTAGAGTGTGGGTGCTCCAGAGACTTTTGGAATC ATGAGGATTACTAGAATAGGACTAAACCTCAGTGACTCATTAATTTTCTT TATTACTATGAGGCATCAAATATATATATATATGTATATATTTTGTTGAT ATTCACAATTTGAATAAGACATACTAGAATGTAAGAACCTTGGCTTTATT TTTAAGGAAGCAAATTGTGTTGGTAAAATTGCCATTTTATAAAACCTCAT TAGCGAATAACATGATATACCAAACCAGACTAATTTTAAAAACCATAATT CTGAATTTATGACTTGAATACTTAAATTGTTGTTATTCATAGGTATTTTA CTGATTTTAACCTAGAAAATTTTGTTAATATTTAATAAGTCTGTTGAAAC TAAATTTATAACAAATACATCAATATTGAGGGCCAATTAAATTTGCTGTT CCTGATGAGGTTTGTACATCTTCCTCCATCAGTGGATCAAGAAATATTGA GATGGCAAAGCTAGAAATTACAAAAATGTTGGATACTATTGTAGCATACG GGTATGAAAATCAATGAATATTTATATTTAGTATTATGCTCCAAGTATAT ATCCAAGCTGATCAATTCATAACACTTTCACTGATGAGATGTCAAATCTA CATTCAGCTGAACTCTCATCCGAACTGTGTACTTTCTCAATGACAGGACA TATTAAAGAACATGATGAATATTTGTAATGATATAAATTATTATAATGTG TTGCATTAAAGACACATGGTGTAGCATTCTACGTTCAGCTTTTGCATTTA TTTTCTCAGTGTCATGATTTGCTCCTCTGATTCAAGATCACTTATCTCCT CATCACTCAGCGTATACATATTGGCATTAACATTTTTTGCAAAAATCATA TATAAATGGGTGTACAATGTTCTTGTCATTCTACAGCAACTTTTTATTTT TTGTTCAGCGATTAGCTTGTTTTTCATTTATTTAAAGATTTCAGGCCAGG CGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC AGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACC CCATCTCTAATAAAAATACAAAAAATTAGCCGGGCGTGGCGGTGGGTGCC TGTAGTCCCAGCCACTCAGGAGGTTGAGGCAGGAGAATGGCCTGAACCCG GGAGGTGGAGCTTACAGTCAGCCCAGATCTCAACACTGCCCTCCAGCCTG GGTGACAGGGCGAGACACCGCCAAAAAAAAAAAAGAAAAAAAAATCATAG TGTGCATTTTTACTTTCCACCACATTTAATTAGACTCTCTTCATGGTGAC TAAAAAGCATCATAATAATTACAGATGTCAGCAAGCCTTTGTTTAAGTGT ATGTCCTACTTCACGCTATATTAGAAATTAAAAGTGAAGTAATTAAAATG CAAGGATGCACAGCCATACATTTCAATAGCCATTACAAATGTGGCTCACT AATCTTTAGAGCCATGCCATGTGACCCGTCCTGATTTTAAAATCTCCAGT GTACCCCTTTATAAAAAGAAAGTAATTTAAAAAAATAACGAAGGTAGTAT TTCCCTGCTTGCTTCCTCTGCATGGATTTTGAACTTCAGGGATAATCAGA TCACATTTTAGAACCAGAGTTTTCAACCATACATAGGATTCCTAAATGCC AAGTGATAAACGGTTCGTTGATGATGAGATAGCTCTGAATGTTTCATCTC TGCGTGTTTTGCTTTTTTATCTTGTCTTAGAAAGGTCAAAGCCAGCTATT TTCTTCATAAAGGAAAATATTTTGGTTACATACTCATTTCCTATCTCATG ACACTCTGCTTTCTTTGCACTTAGTGAGGATGTACATTTATCATATTTTT ACCTAAAACAAGCAGATGGATTAATGGTATCATTTCCTATATACGAATTT CTGAGGTTTCTTCAGTGCTTCAGAAGTAAAGTTTAAAGATATTAATGAAT CGAGAACGACCTTCTCATCGTAATTAAAGCGGGTTTTTATTTAAAGTGTA TTGAATACAATTTTAAGCACTTTTTTTCTAAAACACATACCTGCAACACG GTCATGCATATTTAGCCTTAAAATGCTTGCACATAAATTTTGTGTGTTTT AGAGAGTTTATGTCCCCTGAAGTGTCTTCATTACTGATCAATCAACTCCA AAGGAAACAACATATATACTTGACATGTCTAAATATATTAAAGTGTGTCT TACTGAAAAATAACAAAGTAGAGAAAAATGAGAGATTAAGCATGTTGTAT TCATATTATTTGAGGAAATGAGATATATTTCTATGTCAAAGAAATGTCTG TTTTTTTCTTGAAGCTAAGCTTTCTATAAAAGCTTTTTCATAACAGTGGT TTAACAACTCGCATGGTATAACAAATAGAATTAGTTTTAGCAAAGCAAAG CAATTGTAGAATTCATTCCTTGAACAATAAAACTGTTATTTTCAATAACC ATTATTCTAACATTGAAATATGCAGGTTAATGATATGTAAAAAGTCTCTG GAAATTGACATCTAGTTTTTGATACTTTCATATCAGGTGTTTTTTCTTTT GTTGAGACAGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGGGGCATGA TCTTGACTCACTGCCACCTGGGCCTCCTGGGTTCAAGTGATTCTCACAGC TCCGGCTCCCAAGTAGCTGCGGTTACAGGCATGTGCCACCATACCTGGAT GATTTTTGTATTTTTTGTGGAGACAGGGTTTCGCTATTTTGGCCAGGCTG CTTTGGAACTCCTGGCCTTGAGAGATCCACCCTCTTCGGGTTTCCAAGGT TCTGGAGATACAGGCATGAGCCACGGCACCTGGACTGTATTAGTTTGTGG ATGGGTGTGCTTTGACTTTTCTGTATAAGTGGATCAGGAAATTTTGAGAG GACTAAACCAGAGAACCCCATAAATGTAAAAATACTCCTATATCACAGAG TATCAAAAATAAATATATTCATAACTTTTATTCTATAAGTAGATATTTAT GCTGATAAATTTAGAACATCCTCTGCAATGATAAGTAAATTGTACCTTTG AATTCTCATCGGAGCTTTGCAATTCTTAAATTACAGGACAAATTGAAGAA CATAATAGCTACTTGCAGTATATTGACATAAGAGATTCTGATGTGTTTCC TTAACAATATGTCATAGCATTCTACCATTACCTAGGACTTATTTTTTTTT TGGCGGGGGGTCATGACTTGGTCATCTTAATAAATTCAACTTCTTTCCCT ATACGGCAGATTAATCTTACTGGTATTAGGATTTTTCTACTTTAGTTATT GTCAGTTGAAATATATTTTGACTGTTGAAATCTTCATAGCACGTTTGATG AAATTTATTTTTTAAATTTTCTTAAGTATATTTCTGTCCCATTGGCATGT TAACAAATACAAAAACCCAAAAGACCCCAAAACCTAGTGTAATCCCTTTT CAATCCAAGCATGAGGACTCATCTTCATATTCACATTGTACGAATGCTTG GTAGGCTTTGTCAGGCTTGCATATAATCAATTATATATGTCCCTTTTCTT TTAGAGTCTCCTGATAAAGATGGTCTTCTGAAGGTAATTACTTTTATATT TCTATGTTGAATATTAACTACATATTTTTGAAGTATACATTATATATTAA TTTTTGTGTTTCCAAACCCATTTAGCCTACCTGTGGAAGGAAAGTTTCTC TTCCAAATAAAGCCTTAGAATTAAAGGACAGAGAAACACTCAAAGCAGGT AAATTTTGTAATTTAAATTTTAATCTGGAATTAAGAATATTAAACTATTT GAAATGCCAAGAGCCTTTTATTCCCAATGTTGTTTTCTTTAGAAAATTTG GTGGGAAAATTTGATACAAATAATGCAAATGTTAGTATTTATGTTTGAGA AAATGTCATTTAGAAGCATAAGATTTAGAGATAAAAAAAATTCAGCTTTG CCTCATGTGGATATCTGTCCAGCAGCCTGCAATGCAATGGGGCCTTGTCT TTGTTCCCAGGTGGATCGGCAGGTTGAGAAAGAATAGACACAGACAAGAT AGTGAAAGCTGGGTCCAGGGGAATCACAGCCTTGTGTTCCCGTGGTGCCA ACAATTCACTAGATATACCCGCATTTACTATTAAGTTTAGTGAGGGTGGG GGTGGGTTAATGAGGGATTTAGGGTCATTTGATTTTGAGGTGAGATGGTC ACATGGGGATAAAGTAATTCTTTAACTAACATCTGTATGCAGAAATACAG TACACAGGGATAAGAATTTACAATATAGTGTGTGCATCGGTAATTTCTAA CAGAGCCTTAAAAAAGAAACACAGTCTTTCCATAACCTATGATTAGCAAG ATATTAATCAGCAGTAACAGTTGCAGCAAAAGCTGGTTAGAAACAATCCA TAGAAACAGGATGTGAAGCTAGACAACTGGTTAGACCAGAAATTCTCAGA AGGGAGTATGCCTTAACCCTAAAGAGGCCTAGAAGAGCCATGGCGAGATG AGGGCGTTCATAGCACTATCTTATCCATATGGACAGGCACCCCCCATGCA TCTGTTTATAGGCTCTCCACAAGGGTAGCATTCCATTCCCAGAGCTATGA ACATATGCCTTTCTGGGATAGGAATCTTGGTGATGCAAAACCTCCCTGAC TGCACGTCCATTCACAGGCTCTCTGCAGGGGGAAACACATCACGCGCTGT TGGCTCATTCTGGCAGTCCAACCTGGCATTGTCTTTACACAATCCTGCAT GCAATTTTGTTTTACAATAATCAGGAGCATTGCATCTTTCATTCCATAGC AATAGTTTCAGGGAGTCTTCCTACAGTTGACATGTTAACAAATACAATAA CCCAAAAGACCCCAAAACCTAGTGTAATCCCTTTTCAATCCAAGCATGAG GATTCATCTTCATATTCACACTCTATGAACATTTGGTAGGCTTTGTCAGG CTTGCATATAATCAATTATATATGTCCCTTTTCTTTTAGAGTCTCCTGAT AAAGATGGTCTTCTGAAGGTAATAACTTTTATATTTTTATCTTGAATATT ACCTACATATTTTATGAAGTATACATTATCTATTAATTTTTGTGTTTCCA AACCCATTTAGCCTACCTGTGTAAGGAAAGTTTCTCTTCCAAATAAAGCC TTAGAATTAAAGGACAGAGAAACATTAAAAGCAGGTAAACTTTGTAATTT AAATTTTACTCTGGAATTAAGAATATTAAACTATTTGAAATGCTGAGAGC CTTTTATTCCCAAAGTTGTTTTCTTTTGAAAATTTGATGGGAAAATTTGA TACAAATAATGCAAATGTTAGTATTTATGTTTGAGAAAATGCCATTTAGA AGCATAAGAATTAGGGATTTAGAAAAAAATTCTGCTTTACGTCATGTGGT TCTTCTTTAATATCCCGATAGTGTAAAGTTTCCAATTTGCAATTTCTGTA CGTGCTCAGTTTTACGGCAGGTGAATTTTGAAACTGTGAAATATTTTCAG TGGTTCAAATGCTGACTGGAATTCTGATCTTTACTTTGAGGAAAGTTTCA CTTGCTGACGTGACAGTTGTGAGTGTTGTCATTCTGAGAATCTAAAGAAA ATCAGTTTCTTGTTTTTCTGATTAGGTGACTGAGTGTGTGTGTGTGTGTG ACATATAATTTTTAAAAATCACTACTTGATGACTCTTTGCTAGACACACT GTTTTAGAAGTGTGACTCTAAAGCTTTTGGCCTTGGTGTCTTTTTATGCT ACTGTAATTAATTGCCTAGAGGTACAAAACAGCCTGAATTAATTTTTGTT GTCATTCCCATGCATGTTTAAATCATGTTACAACAGGCTGTGCATGGTGG CACATGCCTGTAATCCTGGCAATTTAGGAGACCAAGGTGGGCAGATTACT TAAGGTCAGGAGTCGCAGACGAGCCTGGTCAACACAGTGAAACCCCATCG CTACTAAAAATAACAAACAATAGCCGGTTGTGGTGGTGGGTGCCCGTAAT CTCAGCTATTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCATGAGGC AGAAGTTGCAGTGAGCCAAGCTTGTGCCACTTTAGCCTGAGTGACAGAGT GAGACTCCATCTCAAAAAGCAAACAAACAACCATAAATTCACAACATATG TGTGTGGTTCTGACTATGTGTAGAATTTGTTTTGACGTCTTAAATTTTCT TTTTTTTTTAAATTTTGATATGGCGTCTCGCTGTCTCGCCCATCTCGTTG TCTCGCCCAGGCTGGAGAGCAGTGGTGTGATCTTGGCGCACTGCAAGCTC CACCTCCCGGCTTCACGCCATTCTCCTGCCTGGGCCTCCCAAGTAGCTGG GAATCCAGGCGCCCACCACAACGCCTGGCTCATTCTTTGTATTTTTAGTA GAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGACCTGCTGACCTT GTAATCCACCCACCTCGGCCTCCTAAAGTGCTGGGATTAGAGGCGTGAGC CACCGCGCCCGGCCCAGAGTCTTTTTACACTAGTACCATTTATTGCCTAG AAGTAACCAATATTCTAAACTACTTTTTAAAAGTATTCTTATGCATGTTT AAACATTTTCCAACATGTGTACGTGGTCATATTTAATACATAAAATTTTT TTCAACTTCTAATGCATAGGTGGTTGTACAGTGTAATTTTTGACAACATT CTGTTTTGATCAGCATTATAATTTTTAGAGACGTCCATAAAGGACACAAT TAACTGTCTTTTTAAATGTCAGATTGTTTATAAAATTCCATTAAGTACAC AATTATTATGCTGATAAATAAAAATGAAAACATGAAAATTTCAGAGTCTT TAAGTTAGTTATATCTACTGACTTTTTAGTTGTGAGAAATTAAAACTAAA ATATTTAAAGTATTTCCTTGTGCAATCATACATTCCACTAACAATTCCAA CTGCGACCCACAGATTATTAGAGCTATGCTACTGCAACACATTAGATCTC TGAAACGATCCAGGGTACACTTCTAAACATGAGTGAAAATGGTGGCATAC CAAAGTATGATTTTAGTTTCTTGGTCCCTCTGCATGAAATGTGAACTTTA GGGATGCTGAGATTACATGTTAAATTTACTTTTAAAAACCAGATACACAG TTGATGGATGTCAAATGATAAACGTACCTTTAACGATGATACAGTCTTTT AGGCTTTAGTCGTGCATGTTTGCTTTTTTCTTTAACCTGATTCAAAGAGT TGTAATGTGTACTTTTGGTTGATAAACAAAGCTGAACGTTATTTTTGGTA TAAATTCATTTTCTGTCTCATTGGCCTGAGAGCTCCTCAAGTCTTGTGTG GGCCTTGATTTTATCCTATAACATGTGGGGATGTGAGATTACTTAGGGCA ATTATTTTTTCCTATACATTTCTGATGTTTCTCCTAGTTGTCACAAGCTG ACTCTGAAGACATTGTTGAGTTAGGGGAGAACTATGTCATTGTAATTAAA GCAGTTCTTAATTTATATGCAATAAAAGTTTTTTAAGCTTATCTTCCTAA AACATATAGACACCCAAAACACACCCAATATACTGTCATGGCATATTGAA ATGTAAAAGTGTTGGACATATAGTTTACTAACATCAGAAAGTTAATATCC CTAAAAAATCTTGTTCGTTGATAAATCATCTTTTTTGAAGAACTGTGTAA TAGAGATTGCAGAGTCAATCAAACTAAGTAATACTAGAAAATAAAAATTT ACAAAGAAGTGAGAGATGATAGGTAATTAAAGTTTTCTGAATGAACAGCA AGTATAGGACACACTGTGTTTCACGGGAGAAGAGGATGTAACTGCTTTGT GAAGAAATAACTCTACGAGTTAGTCAAATTTCTATTTTTCTGCATTCTAA CGAATGATATAATGTTGATTTTCCGTTTTTTTAGATTTCATTTCTAACGG ATTGACTATAGAAGTAGTGATTGTAATCAACAAAAAGAATATACGGGCTA CAGAGGAAAAACCGCAGATTCGTGAATGAAAGTAGATTTATATATGTTTT TAAAGTTTATAGTAGAGAAATGTTCTCATGAATGTATCTGTGATTAACCT TTTATAGCTCAGATGTTCCCATCAGAATCCAAACAAAAGGATGATGAAGA AAATTCTTGGGATTTTGAGGTACTGTGTATTATTAATTTTCTTTAATACT AGTATTGCATGATACAAAAACATAAAAGCAGAGGCTTAGACTTTATTTTC TCACCTCTGCATATGTCACTCCCAAATTATTTTTGATATTTTTCAGAATA CGCTTAATAGAGGATCTATGTGCTAAGTAGATGACTGCTTCGTAGTGAAA TTCTGCTAATTTTCAGGCTTAATTTAAGAAGCCGGTGTGGTATAGTGTAA AAAATAAGGCTTAGAAGTCACTAGAAATTCACATGGGATCTGAAGCAAGT TTGTCTAAAAGCAAAAGAATTACACTGAGTCCAGCTGTGGGCAAATTTAT GATTCTGTGGTGTATCTAGATGTGCAAAAGTTCTAACTGGATTCGTAGAG AGACAGTTTAAACTGCAGTATTGTAAAAGTTGGGACCTGAAAAGTTAATG CCTGGGACTTGAATGTATTGACATTTCTGTATTGTTCAGTATAGATCTGA GGGAACATTTCAGGAGAAAGAGGAGCATGAGGACTAGGAAACCTTGTGGG ACTACAGTAACAAGAGTATTGGTTGAGTAATCTTTTGAAAAATATAAATT ATTTTCACAAGTAGAACTCCTCGAGTCCCTTTGTGGCAGGCAGTCAAGCT GCAGCAGCATGAGTGTGAAATAATAGTGATGTATTTTAAGGTCACAACTG TGGAAAGACATGGAAAATATCTGACCTCTTAGAAACAAGCAGCTGCTGCC TGGTGGTAAGAGCAAAGGGTGGAAGTCAGTAGACAAGTAGATTTTATCTG ATTTGTCGTCAGACAAAAAGACTTTAATATTTGTTGGCTTTCATTTAGAC ATGACATAATTTCTTTTCTTACTGCATTTACATTCTCTTCAAGCACTTTT TCTATCAGCATAAATTTTGTCAAAAACATGTTGCTTGTTTTAAGCCCCTG TTTACCAAAATAAAGCAACTTTTTAAACATTCCGTGCATGCATTATATGA CAGACTCTAAAAGTTCTCTTCACGGCATGCATCATTTTTAACACTAAACA ATCTATGATCATGAATATTTTAAATGTTTAATGCAGTACGTGTTATGGCT AGTAGCAAGTGTATTGTATTTTGTTTGAAATGGCGTATTTACTTTTAATG AGGACTACAACACAAGTTAGATATTTTTAAGAGAGTTACTTTCTGAAATA TGCACGAGTGAATTCTTTCGTGAGTGTGATTTGTTTTTCCTGCTCAGTAA CCAAGTTAATAGCCTCATGAACGTAAAGGTAAGTTGATGTGGAGAGTGTT ATGTGAGGTTTTCTATCAGAATGTTTTGGGTTTCAACACATGTCTGCTCT TAAGTCGAATTCCTTGTAAAGTAGGAAACTGTGTTTTTAGAAAAGATTTT AATTAGGAACTTTTGATACTCCTCATTATTGGGATTTCTCCATTGAAATT ATTTATTGATATTACTTTTAACAGAGTTTCCTTGAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19082.hp2 NA19082.hp2	a0037 a0037	a0037c0058 a0037c0058	a0037c0058t0002 a0037c0058t0002	a0037c0058t0002g0044 a0037c0058t0002g0044	1	316	0.0032	10886	c.258 others(10895): Show c.2581_2582insTGTGTTTACCCAAGGCTACACATCAAAAAGAATTCG ATACCTTAAGTGGAAAATTAGAAGGTAAGAACCATATTTTATTTAAAAAG TCATTTGACCAAATGTTTCTCTGAACTGATGAGGAGGGATATCCCCTAAT AGCTGAAGAAAATTACCTCCTGAATGCAAAGCATGGAAAAAAAGAGAAGT GAAATGGTGATAAGTTATACGTCTTATCATGTGTTGGCAGCAGACTACAT AGAGAGTGCTGGAAAGGAACTGAATTATTAGTTTGAATTCAAGGTATTCC AAGAGCTGAGGAAAATGAGAAAATAAGAAAGGAGAAAGTAGTAAAAGAGG AAATGAAGATCGAGAAAGACAGAGAGTACAGAGAGGACGGGAAGGAACAA GAGGCAGGTTTATATAATGGAGGATGGTAAAATGAAATGATTCTTTAGGA AAAGATCGGGTATGGTTAGAAATTTGGGAAGAATATAAAGTGACTTTCCA GTGCCAAAACATACCAGAGAATTACAGCAAAAATATTCTGACTCTTCCTG TCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGCAGCTGACCATGGA GAGCTGTGTTCTATTTGCAATAGTTGAGAATAAGCATATATGCACGGCCA CACATGTATATAATTTGTCATATACACTCCGTATAGACCGTAAGTTTTCA AACTTTAGAAAACCGTCTGAAAACCTTGTTAACAATTCACACTGTGATTC AGCCGACTAGGGATTCTGCATTTTTAGTAAGTTGTCAGGCGATGCTGATG CTGGTGGTCGTTGGACCTTGCTCTGAGTAGCAAGATGAGAGACCTTTGTG GGAAAAAATGTGGAAGAAGGGCCATTGGGTAGAAGGTCAGGACAGAAAAG GGTCAGGAGAAAGCATTATGGTGCTCCTATTTTTGAGTATGTTTTTAGTT AGGGGAGAAGAAGAAAGGGGCAATGGAATAGAAATTGTAGATGGAAGATA CTACTTCTATACAAAGAAAAAGGAAAGAGTGTGTGTTGAATGGGAAGAAT CAAGAACACAAGTCTAGTGATTACTTTTGCTAAAGAAGAGAGATTATGAG GCAGGAAGCAGGGGACAAGAGAGAAGCCAGCTAGATTATTTTGGATTTTG TATGAAGGAAAATGGAGTGAACTCACTTCGGAAGCATTTAGAATATTTTG ACTGCAGAATGTTAGAGTGTGGGTGCTCCAGAGACTTTTGGAATCATGAG GATTACTAGAATAGGACTAAACCTCAGTGACTCATTAATTTTCTTTATTA CTATGAGGCATCAAATATATATATATATGTATATATTTTGTTGATATTCA CAATTTGAATAAGACATACTAGAATGTAAGAACCTTGGCTTTATTTTTAA GGAAGCAAATTGTGTTGGTAAAATTGCCATTTTATAAAACCTCATTAGCG AATAACATGATATACCAAACCAGACTAATTTTAAAAACCATAATTCTGAA TTTATGACTTGAATACTTAAATTGTTGTTATTCATAGGTATTTTACTGAT TTTAACCTAGAAAATTTTGTTAATATTTAATAAGTCTGTTGAAACTAAAT TTATAACAAATACATCAATATTGAGGGCCAATTAAATTTGCTGTTCCTGA TGAGGTTTGTACATCTTCCTCCATCAGTGGATCAAGAAATATTGAGATGG CAAAGCTAGAAATTACAAAAATGTTGGATACTATTGTAGCATACGGGTAT GAAAATCAATGAATATTTATATTTAGTATTATGCTCCAAGTATATATCCA AGCTGATCAATTCATAACACTTTCACTGATGAGATGTCAAATCTACATTC AGCTGAACTCTCATCCGAACTGTGTACTTTCTCAATGACAGGACATATTA AAGAACATGATGAATATTTGTAATGATATAAATTATTATAATGTGTTGCA TTAAAGACACATGGTGTAGCATTCTACGTTCAGCTTTTGCATTTATTTTC TCAGTGTCATGATTTGCTCCTCTGATTCAAGATCACTTATCTCCTCATCA CTCAGCGTATACATATTGGCATTAACATTTTTTGCAAAAATCATATATAA ATGGGTGTACAATGTTCTTGTCATTCTACAGCAACTTTTTATTTTTTGTT CAGCGATTAGCTTGTTTTTCATTTATTTAAAGATTTCAGGCCAGGCGTGG TGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATC ACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCATC TCTAATAAAAATACAAAAAATTAGCCGGGCGTGGCGGTGGGTGCCTGTAG TCCCAGCCACTCAGGAGGTTGAGGCAGGAGAATGGCCTGAACCCGGGAGG TGGAGCTTACAGTCAGCCCAGATCTCAACACTGCCCTCCAGCCTGGGTGA CAGGGCGAGACACCGCCAAAAAAAAAAAAGAAAAAAAAATCATAGTGTGC ATTTTTACTTTCCACCACATTTAATTAGACTCTCTTCATGGTGACTAAAA AGCATCATAATAATTACAGATGTCAGCAAGCCTTTGTTTAAGTGTATGTC CTACTTCACGCTATATTAGAAATTAAAAGTGAAGTAATTAAAATGCAAGG ATGCACAGCCATACATTTCAATAGCCATTACAAATGTGGCTCACTAATCT TTAGAGCCATGCCATGTGACCCGTCCTGATTTTAAAATCTCCAGTGTACC CCTTTATAAAAAGAAAGTAATTTAAAAAAATAACGAAGGTAGTATTTCCC TGCTTGCTTCCTCTGCATGGATTTTGAACTTCAGGGATAATCAGATCACA TTTTAGAACCAGAGTTTTCAACCATACATAGGATTCCTAAATGCCAAGTG ATAAACGGTTCGTTGATGATGAGATAGCTCTGAATGTTTCATCTCTGCGT GTTTTGCTTTTTTATCTTGTCTTAGAAAGGTCAAAGCCAGCTATTTTCTT CATAAAGGAAAATATTTTGGTTACATACTCATTTCCTATCTCATGACACT CTGCTTTCTTTGCACTTAGTGAGGATGTACATTTATCATATTTTTACCTA AAACAAGCAGATGGATTAATGGTATCATTTCCTATATACGAATTTCTGAG GTTTCTTCAGTGCTTCAGAAGTAAAGTTTAAAGATATTAATGAATCGAGA ACGACCTTCTCATCGTAATTAAAGCGGGTTTTTATTTAAAGTGTATTGAA TACAATTTTAAGCACTTTTTTTCTAAAACACATACCTGCAACACGGTCAT GCATATTTAGCCTTAAAATGCTTGCACATAAATTTTGTGTGTTTTAGAGA GTTTATGTCCCCTGAAGTGTCTTCATTACTGATCAATCAACTCCAAAGGA AACAACATATATACTTGACATGTCTAAATATATTAAAGTGTGTCTTACTG AAAAATAACAAAGTAGAGAAAAATGAGAGATTAAGCATGTTGTATTCATA TTATTTGAGGAAATGAGATATATTTCTATGTCAAAGAAATGTCTGTTTTT TTCTTGAAGCTAAGCTTTCTATAAAAGCTTTTTCATAACAGTGGTTTAAC AACTCGCATGGTATAACAAATAGAATTAGTTTTAGCAAAGCAAAGCAATT GTAGAATTCATTCCTTGAACAATAAAACTGTTATTTTCAATAACCATTAT TCTAACATTGAAATATGCAGGTTAATGATATGTAAAAAGTCTCTGGAAAT TGACATCTAGTTTTTGATACTTTCATATCAGGTGTTTTTTCTTTTGTTGA GACAGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGGGGCATGATCTTG ACTCACTGCCACCTGGGCCTCCTGGGTTCAAGTGATTCTCACAGCTCCGG CTCCCAAGTAGCTGCGGTTACAGGCATGTGCCACCATACCTGGATGATTT TTGTATTTTTTGTGGAGACAGGGTTTCGCTATTTTGGCCAGGCTGCTTTG GAACTCCTGGCCTTGAGAGATCCACCCTCTTCGGGTTTCCAAGGTTCTGG AGATACAGGCATGAGCCACGGCACCTGGACTGTATTAGTTTGTGGATGGG TGTGCTTTGACTTTTCTGTATAAGTGGATCAGGAAATTTTGAGAGGACTA AACCAGAGAACCCCATAAATGTAAAAATACTCCTATATCACAGAGTATCA AAAATAAATATATTCATAACTTTTATTCTATAAGTAGATATTTATGCTGA TAAATTTAGAACATCCTCTGCAATGATAAGTAAATTGTACCTTTGAATTC TCATCGGAGCTTTGCAATTCTTAAATTACAGGACAAATTGAAGAACATAA TAGCTACTTGCAGTATATTGACATAAGAGATTCTGATGTGTTTCCTTAAC AATATGTCATAGCATTCTACCATTACCTAGGACTTATTTTTTTTTTGGCG GGGGGTCATGACTTGGTCATCTTAATAAATTCAACTTCTTTCCCTATACG GCAGATTAATCTTACTGGTATTAGGATTTTTCTACTTTAGTTATTGTCAG TTGAAATATATTTTGACTGTTGAAATCTTCATAGCACGTTTGATGAAATT TATTTTTTAAATTTTCTTAAGTATATTTCTGTCCCATTGGCATGTTAACA AATACAAAAACCCAAAAGACCCCAAAACCTAGTGTAATCCCTTTTCAATC CAAGCATGAGGACTCATCTTCATATTCACATTGTACGAATGCTTGGTAGG CTTTGTCAGGCTTGCATATAATCAATTATATATGTCCCTTTTCTTTTAGA GTCTCCTGATAAAGATGGTCTTCTGAAGGTAATTACTTTTATATTTCTAT GTTGAATATTAACTACATATTTTTGAAGTATACATTATATATTAATTTTT GTGTTTCCAAACCCATTTAGCCTACCTGTGGAAGGAAAGTTTCTCTTCCA AATAAAGCCTTAGAATTAAAGGACAGAGAAACACTCAAAGCAGGTAAATT TTGTAATTTAAATTTTAATCTGGAATTAAGAATATTAAACTATTTGAAAT GCCAAGAGCCTTTTATTCCCAATGTTGTTTTCTTTAGAAAATTTGGTGGG AAAATTTGATACAAATAATGCAAATGTTAGTATTTATGTTTGAGAAAATG TCATTTAGAAGCATAAGATTTAGAGATAAAAAAAATTCAGCTTTGCCTCA TGTGGATATCTGTCCAGCAGCCTGCAATGCAATGGGGCCTTGTCTTTGTT CCCAGGTGGATCGGCAGGTTGAGAAAGAATAGACACAGACAAGATAGTGA AAGCTGGGTCCAGGGGAATCACAGCCTTGTGTTCCCGTGGTGCCAACAAT TCACTAGATATACCCGCATTTACTATTAAGTTTAGTGAGGGTGGGGGTGG GTTAATGAGGGATTTAGGGTCATTTGATTTTGAGGTGAGATGGTCACATG GGGATAAAGTAATTCTTTAACTAACATCTGTATGCAGAAATACAGTACAC AGGGATAAGAATTTACAATATAGTGTGTGCATCGGTAATTTCTAACAGAG CCTTAAAAAAGAAACACAGTCTTTCCATAACCTATGATTAGCAAGATATT AATCAGCAGTAACAGTTGCAGCAAAAGCTGGTTAGAAACAATCCATAGAA ACAGGATGTGAAGCTAGACAACTGGTTAGACCAGAAATTCTCAGAAGGGA GTATGCCTTAACCCTAAAGAGGCCTAGAAGAGCCATGGCGAGATGAGGGC GTTCATAGCACTATCTTATCCATATGGACAGGCACCCCCCATGCATCTGT TTATAGGCTCTCCACAAGGGTAGCATTCCATTCCCAGAGCTATGAACATA TGCCTTTCTGGGATAGGAATCTTGGTGATGCAAAACCTCCCTGACTGCAC GTCCATTCACAGGCTCTCTGCAGGGGGAAACACATCACGCGCTGTTGGCT CATTCTGGCAGTCCAACCTGGCATTGTCTTTACACAATCCTGCATGCAAT TTTGTTTTACAATAATCAGGAGCATTGCATCTTTCATTCCATAGCAATAG TTTCAGGGAGTCTTCCTACAGTTGACATGTTAACAAATACAATAACCCAA AAGACCCCAAAACCTAGTGTAATCCCTTTTCAATCCAAGCATGAGGATTC ATCTTCATATTCACACTCTATGAACATTTGGTAGGCTTTGTCAGGCTTGC ATATAATCAATTATATATGTCCCTTTTCTTTTAGAGTCTCCTGATAAAGA TGGTCTTCTGAAGGTAATAACTTTTATATTTTTATCTTGAATATTACCTA CATATTTTATGAAGTATACATTATCTATTAATTTTTGTGTTTCCAAACCC ATTTAGCCTACCTGTGTAAGGAAAGTTTCTCTTCCAAATAAAGCCTTAGA ATTAAAGGACAGAGAAACATTAAAAGCAGGTAAACTTTGTAATTTAAATT TTACTCTGGAATTAAGAATATTAAACTATTTGAAATGCTGAGAGCCTTTT ATTCCCAAAGTTGTTTTCTTTTGAAAATTTGATGGGAAAATTTGATACAA ATAATGCAAATGTTAGTATTTATGTTTGAGAAAATGCCATTTAGAAGCAT AAGAATTAGGGATTTAGAAAAAAATTCTGCTTTACGTCATGTGGTTCTTC TTTAATATCCCGATAGTGTAAAGTTTCCAATTTGCAATTTCTGTACGTGC TCAGTTTTACGGCAGGTGAATTTTGAAACTGTGAAATATTTTCAGTGGTT CAAATGCTGACTGGAATTCTGATCTTTACTTTGAGGAAAGTTTCACTTGC TGACGTGACAGTTGTGAGTGTTGTCATTCTGAGAATCTAAAGAAAATCAG TTTCTTGTTTTTCTGATTAGGTGACTGAGTGTGTGTGTGTGTGTGACATA TAATTTTTAAAAATCACTACTTGATGACTCTTTGCTAGACACACTGTTTT AGAAGTGTGACTCTAAAGCTTTTGGCCTTGGTGTCTTTTTATGCTACTGT AATTAATTGCCTAGAGGTACAAAACAGCCTGAATTAATTTTTGTTGTCAT TCCCATGCATGTTTAAATCATGTTACAACAGGCTGTGCATGGTGGCACAT GCCTGTAATCCTGGCAATTTAGGAGACCAAGGTGGGCAGATTACTTAAGG TCAGGAGTCGCAGACGAGCCTGGTCAACACAGTGAAACCCCATCGCTACT AAAAATAACAAACAATAGCCGGTTGTGGTGGTGGGTGCCCGTAATCTCAG CTATTCTGGAGGCTGAGGCAGGAGAATTGCTTGAACCCATGAGGCAGAAG TTGCAGTGAGCCAAGCTTGTGCCACTTTAGCCTGAGTGACAGAGTGAGAC TCCATCTCAAAAAGCAAACAAACAACCATAAATTCACAACATATGTGTGT GGTTCTGACTATGTGTAGAATTTGTTTTGACGTCTTAAATTTTCTTTTTT TTTTAAATTTTGATATGGCGTCTCGCTGTCTCGCCCATCTCGTTGTCTCG CCCAGGCTGGAGAGCAGTGGTGTGATCTTGGCGCACTGCAAGCTCCACCT CCCGGCTTCACGCCATTCTCCTGCCTGGGCCTCCCAAGTAGCTGGGAATC CAGGCGCCCACCACAACGCCTGGCTCATTCTTTGTATTTTTAGTAGAAAC GGGGTTTCACCATGTTAGCCAGGATGGTCTTGACCTGCTGACCTTGTAAT CCACCCACCTCGGCCTCCTAAAGTGCTGGGATTAGAGGCGTGAGCCACCG CGCCCGGCCCAGAGTCTTTTTACACTAGTACCATTTATTGCCTAGAAGTA ACCAATATTCTAAACTACTTTTTAAAAGTATTCTTATGCATGTTTAAACA TTTTCCAACATGTGTACGTGGTCATATTTAATACATAAAATTTTTTTCAA CTTCTAATGCATAGGTGGTTGTACAGTGTAATTTTTGACAACATTCTGTT TTGATCAGCATTATAATTTTTAGAGACGTCCATAAAGGACACAATTAACT GTCTTTTTAAATGTCAGATTGTTTATAAAATTCCATTAAGTACACAATTA TTATGCTGATAAATAAAAATGAAAACATGAAAATTTCAGAGTCTTTAAGT TAGTTATATCTACTGACTTTTTAGTTGTGAGAAATTAAAACTAAAATATT TAAAGTATTTCCTTGTGCAATCATACATTCCACTAACAATTCCAACTGCG ACCCACAGATTATTAGAGCTATGCTACTGCAACACATTAGATCTCTGAAA CGATCCAGGGTACACTTCTAAACATGAGTGAAAATGGTGGCATACCAAAG TATGATTTTAGTTTCTTGGTCCCTCTGCATGAAATGTGAACTTTAGGGAT GCTGAGATTACATGTTAAATTTACTTTTAAAAACCAGATACACAGTTGAT GGATGTCAAATGATAAACGTACCTTTAACGATGATACAGTCTTTTAGGCT TTAGTCGTGCATGTTTGCTTTTTTCTTTAACCTGATTCAAAGAGTTGTAA TGTGTACTTTTGGTTGATAAACAAAGCTGAACGTTATTTTTGGTATAAAT TCATTTTCTGTCTCATTGGCCTGAGAGCTCCTCAAGTCTTGTGTGGGCCT TGATTTTATCCTATAACATGTGGGGATGTGAGATTACTTAGGGCAATTAT TTTTTCCTATACATTTCTGATGTTTCTCCTAGTTGTCACAAGCTGACTCT GAAGACATTGTTGAGTTAGGGGAGAACTATGTCATTGTAATTAAAGCAGT TCTTAATTTATATGCAATAAAAGTTTTTTAAGCTTATCTTCCTAAAACAT ATAGACACCCAAAACACACCCAATATACTGTCATGGCATATTGAAATGTA AAAGTGTTGGACATATAGTTTACTAACATCAGAAAGTTAATATCCCTAAA AAATCTTGTTCGTTGATAAATCATCTTTTTTGAAGAACTGTGTAATAGAG ATTGCAGAGTCAATCAAACTAAGTAATACTAGAAAATAAAAATTTACAAA GAAGTGAGAGATGATAGGTAATTAAAGTTTTCTGAATGAACAGCAAGTAT AGGACACACTGTGTTTCACGGGAGAAGAGGATGTAACTGCTTTGTGAAGA AATAACTCTACGAGTTAGTCAAATTTCTATTTTTCTGCATTCTAACGAAT GATATAATGTTGATTTTCCGTTTTTTTAGATTTCATTTCTAACGGATTGA CTATAGAAGTAGTGATTGTAATCAACAAAAAGAATATACGGGCTACAGAG GAAAAACCGCAGATTCGTGAATGAAAGTAGATTTATATATGTTTTTAAAG TTTATAGTAGAGAAATGTTCTCATGAATGTATCTGTGATTAACCTTTTAT AGCTCAGATGTTCCCATCAGAATCCAAACAAAAGGATGATGAAGAAAATT CTTGGGATTTTGAGGTACTGTGTATTATTAATTTTCTTTAATACTAGTAT TGCATGATACAAAAACATAAAAGCAGAGGCTTAGACTTTATTTTCTCACC TCTGCATATGTCACTCCCAAATTATTTTTGATATTTTTCAGAATACGCTT AATAGAGGATCTATGTGCTAAGTAGATGACTGCTTCGTAGTGAAATTCTG CTAATTTTCAGGCTTAATTTAAGAAGCCGGTGTGGTATAGTGTAAAAAAT AAGGCTTAGAAGTCACTAGAAATTCACATGGGATCTGAAGCAAGTTTGTC TAAAAGCAAAAGAATTACACTGAGTCCAGCTGTGGGCAAATTTATGATTC TGTGGTGTATCTAGATGTGCAAAAGTTCTAACTGGATTCGTAGAGAGACA GTTTAAACTGCAGTATTGTAAAAGTTGGGACCTGAAAAGTTAATGCCTGG GACTTGAATGTATTGACATTTCTGTATTGTTCAGTATAGATCTGAGGGAA CATTTCAGGAGAAAGAGGAGCATGAGGACTAGGAAACCTTGTGGGACTAC AGTAACAAGAGTATTGGTTGAGTAATCTTTTGAAAAATATAAATTATTTT CACAAGTAGAACTCCTCGAGTCCCTTTGTGGCAGGCAGTCAAGCTGCAGC AGCATGAGTGTGAAATAATAGTGATGTATTTTAAGGTCACAACTGTGGAA AGACATGGAAAATATCTGACCTCTTAGAAACAAGCAGCTGCTGCCTGGTG GTAAGAGCAAAGGGTGGAAGTCAGTAGACAAGTAGATTTTATCTGATTTG TCGTCAGACAAAAAGACTTTAATATTTGTTGGCTTTCATTTAGACATGAC ATAATTTCTTTTCTTACTGCATTTACATTCTCTTCAAGCACTTTTTCTAT CAGCATAAATTTTGTCAAAAACATGTTGCTTGTTTTAAGCCCCTGTTTAC CAAAATAAAGCAACTTTTTAAACATTCCGTGCATGCATTATATGACAGAC TCTAAAAGTTCTCTTCACGGCATGCATCATTTTTAACACTAAACAATCTA TGATCATGAATATTTTAAATGTTTAATGCAGTACGTGTTATGGCTAGTAG CAAGTGTATTGTATTTTGTTTGAAATGGCGTATTTACTTTTAATGAGGAC TACAACACAAGTTAGATATTTTTAAGAGAGTTACTTTCTGAAATATGCAC GAGTGAATTCTTTCGTGAGTGTGATTTGTTTTTCCTGCTCAGTAACCAAG TTAATAGCCTCATGAACGTAAAGGTAAGTTGATGTGGAGAGTGTTATGTG AGGTTTTCTATCAGAATGTTTTGGGTTTCAACACATGTCTGCTCTTAAGT CGAATTCCTTGTAAAGTAGGAAACTGTGTTTTTAGAAAAGATTTTAATTA GGAACTTTTGATACTCCTCATTATTGGGATTTCTCCATTGAAATTATTTA TTGATATTACTTTTAACAGAGTTTCCTTGAGACTCTCTTACAGAATGATG	p.Gly others(5): Show p.Gly861fs	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	30/44	2830/5335	2582/4578	861/1525	INFO_REALIGN_3_PRIME	chr18	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
APOBR_chr16_28489643_28503964	28496129	CCGGGACA others(19): Show CCGGGACAGCCTCAGGAGGGGACGAGG	C C	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0022 a0022	a0022c0059 a0022c0059	a0022c0059t0001 a0022c0059t0001	a0022c0059t0001g0001 a0022c0059t0001g0001	1	406	0.0025	-26	c.109 others(35): Show c.1090_1115delGGGACAGCCTCAGGAGGGGACGAGGC	p.Gly others(5): Show p.Gly364fs	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1129/3792	1090/3294	364/1097	INFO_REALIGN_3_PRIME	chr16	TogoVar
APOBR_chr16_28489643_28503964	28496912	G G	A A	stop_gained stop_gained	HIGH	NA19082.hp2 NA19082.hp2	a0031 a0031	a0031c0034 a0031c0034	a0031c0034t0002 a0031c0034t0002	a0031c0034t0002g0001 a0031c0034t0002g0001	1	406	0.0025	0	c.187 others(4): Show c.1871G>A	p.Trp others(4): Show p.Trp624*	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1910/3792	1871/3294	624/1097		chr16	TogoVar
APOL4_chr22_36184128_36206809	36191797	ACT ACT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0010	a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 others(13): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0005t0005 a0002c0005t0016 a0002c0005t0030 a0002c0009t0003 a0002c0010t0003	a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 others(74): Show a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0048 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0097 a0002c0002t0002g0109 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0164 a0002c0002t0002g0179 a0002c0002t0023g0078 a0002c0002t0029g0094 a0002c0002t0031g0087 a0002c0002t0032g0158 a0002c0003t0003g0005 a0002c0003t0003g0008 a0002c0003t0003g0037 a0002c0003t0003g0050 a0002c0003t0003g0096 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0154 a0002c0003t0003g0165 a0002c0003t0003g0185 a0002c0003t0011g0135 a0002c0003t0011g0136 a0002c0003t0011g0194 a0002c0003t0019g0067 a0002c0003t0020g0104 a0002c0003t0021g0121 a0002c0003t0022g0091 a0002c0005t0005g0006 a0002c0005t0005g0032 a0002c0005t0005g0049 a0002c0005t0005g0065 a0002c0005t0005g0066 a0002c0005t0005g0153 a0002c0005t0005g0180 a0002c0005t0005g0183 a0002c0005t0005g0206 a0002c0005t0005g0207 a0002c0005t0016g0055 a0002c0005t0030g0118 a0002c0009t0003g0017 a0002c0009t0003g0201 a0002c0010t0003g0027 a0002c0010t0003g0186	129	434	0.2972	-2	c.323 others(9): Show c.323_324delAG	p.Glu others(5): Show p.Glu108fs	APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	4/4	399/3069	323/1047	108/348		chr22	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
ARX_chrX_24998694_25020965	25013028	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	-1	c.966 others(4): Show c.966delG	p.Leu others(5): Show p.Leu323fs	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/5	1194/2893	966/1689	322/562		chrX	TogoVar
ARX_chrX_24998694_25020965	25013132	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	-1	c.862 others(4): Show c.862delG	p.Glu others(5): Show p.Glu288fs	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/5	1090/2893	862/1689	288/562		chrX	TogoVar
ARX_chrX_24998694_25020965	25013578	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	1	c.416 others(4): Show c.416dupC	p.Asp others(5): Show p.Asp140fs	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/5	644/2893	416/1689	139/562		chrX	TogoVar
ARX_chrX_24998694_25020965	25013613	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	1	c.381 others(4): Show c.381dupG	p.Pro others(5): Show p.Pro128fs	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/5	609/2893	381/1689	127/562		chrX	TogoVar
ARX_chrX_24998694_25020965	25013773	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	-1	c.221 others(4): Show c.221delC	p.Pro others(4): Show p.Pro74fs	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/5	449/2893	221/1689	74/562		chrX	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
ASMT_chrX_1610059_1648081	1624388	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0001 a0012c0007t0001	a0012c0007t0001g0036 a0012c0007t0001g0036	1	223	0.0045	1	c.365 others(4): Show c.365dupA	p.Asp others(5): Show p.Asp122fs	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/9	507/1330	366/1122	122/373	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0007 a0008 a0009 a0010	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0027 a0002c0029 a0002c0031 a0004c0014 a0005c0020 a0007c0026 a0008c0032 a0009c0028 a0010c0030	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0018t0002 a0002c0019t0008 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0027t0001 a0002c0029t0004 a0002c0031t0001 a0004c0014t0002 a0005c0020t0001 a0007c0026t0001 a0008c0032t0001 a0009c0028t0001 a0010c0030t0001	a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 others(144): Show a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 a0002c0003t0001g0282 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0294 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0312 a0002c0003t0001g0315 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0331 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0345 a0002c0003t0001g0410 a0002c0003t0001g0412 a0002c0003t0001g0413 a0002c0003t0001g0414 a0002c0006t0001g0017 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0270 a0002c0006t0001g0272 a0002c0006t0001g0279 a0002c0006t0001g0283 a0002c0006t0001g0288 a0002c0006t0001g0290 a0002c0006t0001g0295 a0002c0006t0001g0296 a0002c0006t0001g0302 a0002c0006t0001g0306 a0002c0006t0001g0310 a0002c0006t0001g0313 a0002c0006t0001g0316 a0002c0006t0001g0329 a0002c0006t0001g0332 a0002c0006t0001g0336 a0002c0006t0001g0343 a0002c0006t0001g0355 a0002c0006t0001g0398 a0002c0006t0001g0411 a0002c0006t0003g0019 a0002c0006t0003g0333 a0002c0006t0003g0339 a0002c0008t0002g0278 a0002c0008t0002g0344 a0002c0008t0002g0365 a0002c0008t0002g0367 a0002c0008t0002g0368 a0002c0008t0002g0369 a0002c0008t0002g0370 a0002c0008t0002g0371 a0002c0008t0002g0373 a0002c0008t0002g0377 a0002c0008t0002g0378 a0002c0008t0002g0379 a0002c0008t0002g0380 a0002c0008t0002g0381 a0002c0008t0002g0382 a0002c0008t0002g0383 a0002c0008t0002g0384 a0002c0008t0002g0385 a0002c0008t0002g0399 a0002c0008t0002g0400 a0002c0008t0002g0401 a0002c0008t0002g0403 a0002c0008t0002g0404 a0002c0008t0002g0405 a0002c0010t0002g0293 a0002c0010t0002g0307 a0002c0010t0002g0322 a0002c0010t0002g0340 a0002c0010t0002g0346 a0002c0010t0002g0347 a0002c0010t0002g0348 a0002c0010t0002g0356 a0002c0010t0002g0357 a0002c0010t0002g0358 a0002c0010t0002g0359 a0002c0010t0002g0360 a0002c0010t0002g0361 a0002c0010t0002g0362 a0002c0010t0002g0363 a0002c0010t0002g0366 a0002c0010t0002g0406 a0002c0011t0002g0284 a0002c0011t0002g0350 a0002c0011t0002g0353 a0002c0011t0002g0392 a0002c0011t0002g0397 a0002c0011t0007g0274 a0002c0011t0007g0275 a0002c0011t0007g0276 a0002c0011t0007g0277 a0002c0012t0005g0273 a0002c0012t0005g0349 a0002c0012t0005g0351 a0002c0012t0005g0352 a0002c0012t0005g0354 a0002c0012t0005g0364 a0002c0012t0012g0323 a0002c0013t0002g0386 a0002c0013t0002g0388 a0002c0013t0002g0389 a0002c0013t0002g0390 a0002c0013t0002g0391 a0002c0018t0002g0341 a0002c0018t0002g0402 a0002c0019t0008g0300 a0002c0019t0008g0311 a0002c0021t0001g0289 a0002c0021t0001g0407 a0002c0024t0002g0387 a0002c0025t0001g0330 a0002c0027t0001g0327 a0002c0029t0004g0281 a0002c0031t0001g0409 a0004c0014t0002g0020 a0004c0014t0002g0375 a0004c0014t0002g0376 a0005c0020t0001g0018 a0007c0026t0001g0314 a0008c0032t0001g0374 a0009c0028t0001g0342 a0010c0030t0001g0372	152	440	0.3455	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
ATP7B_chr13_51927669_52016450	51941080	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0021 a0003c0005t0012g0021	1	302	0.0033	0	c.355 others(6): Show c.3556+1G>A		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	16/20					chr13	TogoVar
C1QTNF9_chr13_24304580_24327531	24318877	C C	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18985.hp2 NA18989.hp1 others(2): Show NA18974.hp1 NA18985.hp2 NA18989.hp1 NA19068.hp2 NA19082.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0035 a0008c0009t0001g0187 a0008c0009t0001g0001 a0008c0009t0001g0035 a0008c0009t0001g0187	5	466	0.0107	0	c.226 others(3): Show c.226C>T	p.Arg others(3): Show p.Arg76*	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding	3/4	285/1824	226/1002	76/333		chr13	TogoVar
C3orf49_chr3_63814299_63853636	63831135	C C	CACACT CACACT	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show HG00621.hp2 HG00673.hp2 HG02027.hp2 HG02132.hp1 HG02165.hp2 NA18973.hp2 NA18986.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19087.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0027 a0003c0003t0001g0052 others(14): Show a0003c0003t0001g0004 a0003c0003t0001g0027 a0003c0003t0001g0052 a0003c0003t0001g0102 a0003c0003t0001g0104 a0003c0003t0001g0119 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0167 a0003c0003t0001g0204 a0003c0003t0001g0222 a0003c0003t0001g0223	20	388	0.0516	5	c.597 others(12): Show c.597_601dupACACT	p.Phe others(5): Show p.Phe201fs	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	4/7	775/1355	602/879	201/292	INFO_REALIGN_3_PRIME	chr3	TogoVar
CABIN1_chr22_24006304_24183628	24113620	ACTTCTTT others(6): Show ACTTCTTTAATGAG	A A	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0174 a0011c0021t0001g0174	1	268	0.0037	-13	c.417 others(22): Show c.4174_4186delTTCTTTAATGAGC	p.Phe others(6): Show p.Phe1392fs	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	27/37	4312/7233	4174/6663	1392/2220	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1F_chrX_49200063_49238340	49231220	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0001 a0018c0028t0001	a0018c0028t0001g0045 a0018c0028t0001g0045	1	290	0.0035	-1	c.362 others(4): Show c.362delA	p.Asn others(5): Show p.Asn121fs	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	3/48	393/6006	362/5901	121/1966		chrX	TogoVar
CBX6_chr22_38856422_38877216	38866655	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show HG00673.hp2 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG03098.hp1 HG03139.hp2 HG04204.hp2 NA18974.hp2 NA18987.hp2 NA19030.hp1 NA19030.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0016 a0002c0002t0029 a0002c0002t0053 a0002c0002t0061 a0002c0002t0081 a0002c0002t0109 a0002c0007t0024	a0002c0002t0001g0082 a0002c0002t0002g0147 a0002c0002t0003g0042 others(8): Show a0002c0002t0001g0082 a0002c0002t0002g0147 a0002c0002t0003g0042 a0002c0002t0007g0072 a0002c0002t0016g0061 a0002c0002t0029g0062 a0002c0002t0053g0178 a0002c0002t0061g0063 a0002c0002t0081g0081 a0002c0002t0109g0083 a0002c0007t0024g0077	12	406	0.0296	1	c.792 others(4): Show c.792dupC	p.Ala others(5): Show p.Ala265fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	818/6052	792/1239	264/412		chr22	TogoVar
CCDC138_chr2_108781771_108881578	108788018	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18945.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0005c0009 a0006c0008 a0007c0014 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0007t0002 a0005c0009t0001 a0006c0008t0001 a0007c0014t0001 a0008c0015t0001	a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 others(75): Show a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0207 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0190 a0002c0002t0003g0187 a0002c0002t0003g0189 a0002c0002t0003g0191 a0002c0002t0003g0193 a0002c0002t0003g0196 a0002c0002t0004g0188 a0003c0003t0001g0002 a0003c0003t0001g0135 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0184 a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0004c0007t0002g0126 a0005c0009t0001g0165 a0006c0008t0001g0166 a0007c0014t0001g0136 a0008c0015t0001g0194	79	220	0.3591	1	c.94- others(5): Show c.94-3dupT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC163_chr1_45488866_45505073	45499365	AGATACAG others(58): Show AGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCT GTGGAGACCCCAAGAG	A A	frameshift_variant frameshift_variant	HIGH	NA18944.hp1 NA18969.hp1 NA18971.hp2 others(7): Show NA18944.hp1 NA18969.hp1 NA18971.hp2 NA18984.hp2 NA18986.hp2 NA19000.hp2 NA19007.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0013 a0003c0003t0006g0067 a0003c0003t0006g0068 others(1): Show a0003c0003t0006g0013 a0003c0003t0006g0067 a0003c0003t0006g0068 a0003c0003t0006g0069	10	408	0.0245	-65	c.92_ others(71): Show c.92_156delCTCTTGGGGTCTCCACAGAGCTCATTGGCCTGTGCATCT GTTTCTTCTGTAGCAGTGGCTGTATC	p.Pro others(4): Show p.Pro31fs	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/5	620/2095	92/438	31/145		chr1	TogoVar
CDY1_chrY_25617117_25629902	25622628	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.192 others(4): Show c.192delA	p.Lys others(4): Show p.Lys64fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	518/2366	192/1665	64/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25622917	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.477 others(4): Show c.477delT	p.Glu others(5): Show p.Glu160fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	803/2366	477/1665	159/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25623461	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	1	c.102 others(5): Show c.1020dupC	p.Phe others(5): Show p.Phe341fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	1347/2366	1021/1665	341/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25623510	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.107 others(5): Show c.1070delA	p.Asn others(5): Show p.Asn357fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	1396/2366	1070/1665	357/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25623722	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	1	c.128 others(5): Show c.1282dupT	p.Ser others(5): Show p.Ser428fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	1609/2366	1283/1665	428/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25624473	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.161 others(5): Show c.1614delA	p.Ala others(5): Show p.Ala539fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	2/2	1940/2366	1614/1665	538/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CEL_chr9_133056981_133076861	133071270	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02155.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03710.hp1 HG04115.hp2 NA18954.hp1 NA18991.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19080.hp2 NA19082.hp2	a0001 a0030 a0001 a0030	a0001c0019 a0001c0020 a0001c0054 others(40): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0190 a0001c0191 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0204 a0030c0043 a0030c0044	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 others(40): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0077t0001 a0001c0190t0001 a0001c0191t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0001c0197t0001 a0001c0198t0001 a0001c0199t0001 a0001c0200t0001 a0001c0201t0001 a0001c0202t0001 a0001c0203t0001 a0001c0204t0001 a0030c0043t0001 a0030c0044t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 others(42): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0057t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0061t0001g0006 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0072t0001g0012 a0001c0073t0001g0001 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0077t0001g0001 a0001c0190t0001g0005 a0001c0191t0001g0026 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0001c0197t0001g0002 a0001c0198t0001g0083 a0001c0199t0001g0021 a0001c0200t0001g0002 a0001c0201t0001g0002 a0001c0202t0001g0005 a0001c0203t0001g0011 a0001c0204t0001g0015 a0030c0043t0001g0037 a0030c0044t0001g0022	45	416	0.1082	1	c.177 others(5): Show c.1776dupC	p.Val others(5): Show p.Val593fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1799/2381	1777/2262	593/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071436	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01243.hp1 HG04115.hp2 HG04228.hp1 others(5): Show HG01243.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18983.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp2	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0074 a0001c0075 a0010c0031 others(4): Show a0001c0074 a0001c0075 a0010c0031 a0010c0153 a0010c0154 a0010c0183 a0014c0219	a0001c0074t0001 a0001c0075t0001 a0010c0031t0001 others(4): Show a0001c0074t0001 a0001c0075t0001 a0010c0031t0001 a0010c0153t0001 a0010c0154t0001 a0010c0183t0001 a0014c0219t0001	a0001c0074t0001g0001 a0001c0075t0001g0009 a0010c0031t0001g0001 others(4): Show a0001c0074t0001g0001 a0001c0075t0001g0009 a0010c0031t0001g0001 a0010c0153t0001g0003 a0010c0154t0001g0014 a0010c0183t0001g0030 a0014c0219t0001g0002	8	416	0.0192	-32	c.194 others(41): Show c.1942_1973delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(26): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0018 a0021 a0023 a0025 a0030 a0031 a0032 a0035 a0039 a0046 a0047 a0051 a0054 a0055 a0056 a0060 a0061 a0065 a0067	a0001c0019 a0001c0020 a0001c0054 others(112): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0075 a0001c0076 a0001c0190 a0001c0197 a0001c0204 a0002c0002 a0002c0007 a0002c0034 a0002c0161 a0004c0006 a0004c0030 a0004c0036 a0004c0148 a0004c0232 a0005c0015 a0005c0021 a0005c0022 a0005c0081 a0005c0082 a0005c0086 a0005c0087 a0005c0088 a0005c0089 a0005c0090 a0005c0091 a0005c0093 a0005c0094 a0005c0096 a0005c0097 a0006c0028 a0006c0126 a0006c0128 a0006c0138 a0006c0139 a0006c0140 a0006c0143 a0006c0144 a0006c0217 a0006c0218 a0007c0112 a0007c0113 a0007c0115 a0007c0116 a0007c0120 a0007c0121 a0007c0122 a0007c0124 a0007c0209 a0007c0210 a0008c0011 a0008c0024 a0008c0098 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0008c0103 a0008c0104 a0008c0105 a0008c0107 a0008c0108 a0008c0109 a0008c0182 a0010c0031 a0010c0155 a0010c0156 a0010c0183 a0010c0236 a0013c0013 a0013c0158 a0013c0159 a0014c0012 a0014c0027 a0014c0129 a0014c0219 a0018c0169 a0021c0134 a0021c0135 a0023c0172 a0023c0173 a0025c0037 a0030c0043 a0031c0048 a0032c0237 a0035c0111 a0039c0176 a0046c0167 a0047c0168 a0051c0078 a0054c0179 a0055c0181 a0056c0180 a0060c0184 a0061c0185 a0065c0047 a0067c0042	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 others(112): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0190t0001 a0001c0197t0001 a0001c0204t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0002c0161t0001 a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0148t0001 a0004c0232t0001 a0005c0015t0001 a0005c0021t0001 a0005c0022t0001 a0005c0081t0001 a0005c0082t0001 a0005c0086t0001 a0005c0087t0001 a0005c0088t0001 a0005c0089t0001 a0005c0090t0001 a0005c0091t0001 a0005c0093t0001 a0005c0094t0001 a0005c0096t0001 a0005c0097t0001 a0006c0028t0001 a0006c0126t0001 a0006c0128t0001 a0006c0138t0001 a0006c0139t0002 a0006c0140t0001 a0006c0143t0001 a0006c0144t0001 a0006c0217t0001 a0006c0218t0001 a0007c0112t0001 a0007c0113t0001 a0007c0115t0002 a0007c0116t0001 a0007c0120t0001 a0007c0121t0001 a0007c0122t0001 a0007c0124t0001 a0007c0209t0001 a0007c0210t0001 a0008c0011t0001 a0008c0024t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0008c0103t0001 a0008c0104t0001 a0008c0105t0001 a0008c0107t0001 a0008c0108t0001 a0008c0109t0001 a0008c0182t0001 a0010c0031t0001 a0010c0155t0001 a0010c0156t0001 a0010c0183t0001 a0010c0236t0001 a0013c0013t0001 a0013c0158t0001 a0013c0159t0001 a0014c0012t0001 a0014c0027t0001 a0014c0129t0001 a0014c0219t0001 a0018c0169t0001 a0021c0134t0001 a0021c0135t0001 a0023c0172t0001 a0023c0173t0001 a0025c0037t0001 a0030c0043t0001 a0031c0048t0001 a0032c0237t0001 a0035c0111t0001 a0039c0176t0001 a0046c0167t0001 a0047c0168t0001 a0051c0078t0001 a0054c0179t0001 a0055c0181t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0065c0047t0001 a0067c0042t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 others(140): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0190t0001g0005 a0001c0197t0001g0002 a0001c0204t0001g0015 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0002c0034t0001g0001 a0002c0034t0001g0003 a0002c0161t0001g0007 a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0148t0001g0060 a0004c0232t0001g0033 a0005c0015t0001g0001 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0022t0001g0001 a0005c0022t0001g0003 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0090t0001g0059 a0005c0091t0001g0001 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0096t0001g0001 a0005c0097t0001g0001 a0006c0028t0001g0001 a0006c0126t0001g0003 a0006c0128t0001g0004 a0006c0138t0001g0003 a0006c0139t0002g0067 a0006c0140t0001g0003 a0006c0143t0001g0014 a0006c0144t0001g0072 a0006c0217t0001g0002 a0006c0218t0001g0015 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0115t0002g0001 a0007c0116t0001g0006 a0007c0120t0001g0001 a0007c0121t0001g0093 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0209t0001g0026 a0007c0210t0001g0002 a0008c0011t0001g0001 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0008c0103t0001g0006 a0008c0104t0001g0039 a0008c0105t0001g0001 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0109t0001g0008 a0008c0182t0001g0030 a0010c0031t0001g0001 a0010c0155t0001g0001 a0010c0156t0001g0001 a0010c0183t0001g0030 a0010c0236t0001g0001 a0013c0013t0001g0001 a0013c0013t0001g0055 a0013c0013t0001g0068 a0013c0013t0001g0074 a0013c0158t0001g0003 a0013c0159t0001g0008 a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0014c0129t0001g0004 a0014c0219t0001g0002 a0018c0169t0001g0001 a0021c0134t0001g0004 a0021c0135t0001g0004 a0023c0172t0001g0001 a0023c0173t0001g0009 a0025c0037t0001g0002 a0025c0037t0001g0011 a0030c0043t0001g0037 a0031c0048t0001g0064 a0032c0237t0001g0040 a0035c0111t0001g0042 a0039c0176t0001g0001 a0046c0167t0001g0020 a0047c0168t0001g0092 a0051c0078t0001g0041 a0054c0179t0001g0086 a0055c0181t0001g0001 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0065c0047t0001g0036 a0067c0042t0001g0080	182	416	0.4375	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP47_chrX_35914734_36390317	36085353	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0025 a0025	a0025c0066 a0025c0066	a0025c0066t0001 a0025c0066t0001	a0025c0066t0001g0170 a0025c0066t0001g0170	1	216	0.0046	1	c.473 others(5): Show c.4735dupC	p.Gln others(6): Show p.Gln1579fs	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	30/64	4802/9941	4736/9564	1579/3187	INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP65_chr2_218997846_219046516	219021144	CTAGGTAC others(20): Show CTAGGTACCTCTGTGGGAAAGGAGAGAG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0227 a0023c0027t0001g0227	1	322	0.0031	-27	c.324 others(38): Show c.3240_3259+7delCTCTCTCCTTTCCCACAGAGGTACCTA	p.Tyr others(6): Show p.Tyr1080fs	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	19/35		3240/5778	1080/1925		chr2	TogoVar
CFAP65_chr2_218997846_219046516	219021206	T T	A A	stop_gained stop_gained	HIGH	NA19082.hp1 NA19082.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0227 a0023c0027t0001g0227	1	322	0.0031	0	c.320 others(4): Show c.3205A>T	p.Lys others(5): Show p.Lys1069*	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	19/35	3282/5946	3205/5778	1069/1925		chr2	TogoVar
CFAP65_chr2_218997846_219046516	219021254	T T	TGCAGGGA others(3): Show TGCAGGGAGGG	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0227 a0023c0027t0001g0227	1	322	0.0031	10	c.315 others(19): Show c.3156_3157insCCCTCCCTGC	p.Ser others(6): Show p.Ser1053fs	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	19/35	3233/5946	3156/5778	1052/1925		chr2	TogoVar
CHRM1_chr11_62903679_62926363	62910396	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show HG00639.hp2 HG01099.hp2 HG01106.hp2 HG02055.hp2 HG03710.hp2 HG03831.hp1 NA18950.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19072.hp1 NA19072.hp2 NA19082.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0004t0001 a0002c0004t0003 a0002c0007t0001	a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 others(12): Show a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 a0002c0004t0001g0092 a0002c0004t0001g0101 a0002c0004t0001g0111 a0002c0004t0001g0114 a0002c0004t0001g0119 a0002c0004t0001g0126 a0002c0004t0001g0134 a0002c0004t0001g0136 a0002c0004t0001g0147 a0002c0004t0003g0051 a0002c0007t0001g0130 a0002c0007t0001g0131	15	420	0.0357	1	c.704 others(4): Show c.704dupG	p.Gly others(5): Show p.Gly236fs	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding	2/2	928/2646	704/1383	235/460		chr11	TogoVar
CLUH_chr17_2684387_2716764	2698290	GGGCCGTG others(19): Show GGGCCGTGACCCGGTAGCCGCGGTAAT	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0001 a0018c0026t0001	a0018c0026t0001g0063 a0018c0026t0001g0063	1	420	0.0024	-26	c.154 others(35): Show c.1541_1566delATTACCGCGGCTACCGGGTCACGGCC	p.Asp others(5): Show p.Asp514fs	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	10/26	1669/5357	1541/4047	514/1348		chr17	TogoVar

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