Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results 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
RBM10_chrX_47140221_47191813	47171113	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	226	0.0044	1	c.292 others(4): Show c.292dupC	p.Arg others(4): Show p.Arg98fs	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	4/24	683/3397	293/2793	98/930	INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMX2_chrX_130396987_130418656	130402254	GC GC	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0072 a0003c0006t0001g0072	1	305	0.0033	-1	c.8de others(2): Show c.8delC	p.Pro others(3): Show p.Pro3fs	RBMX2	ENSG00000134597.17	transcript	ENST00000305536.11	protein_coding	2/6	54/1823	8/969	3/322	INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL2_chr11_7083998_7096148	7089456	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show HG00621.hp1 HG00642.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18956.hp1 NA18976.hp1 NA18978.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19090.hp2 NA20129.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0011	a0003c0004 a0003c0005 a0003c0011 others(4): Show a0003c0004 a0003c0005 a0003c0011 a0003c0016 a0005c0008 a0010c0017 a0011c0015	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(9): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0005t0001 a0003c0011t0001 a0003c0016t0003 a0005c0008t0002 a0005c0008t0006 a0010c0017t0001 a0011c0015t0001	a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 others(9): Show a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 a0003c0004t0004g0000 a0003c0004t0005g0000 a0003c0005t0001g0000 a0003c0011t0001g0000 a0003c0016t0003g0000 a0005c0008t0002g0000 a0005c0008t0006g0000 a0010c0017t0001g0000 a0011c0015t0001g0000	42	460	0.0913	1	c.341 others(4): Show c.341dupG	p.Gly others(5): Show p.Gly115fs	RBMXL2	ENSG00000170748.7	transcript	ENST00000306904.7	protein_coding	1/1	465/2151	342/1179	114/392	INFO_REALIGN_3_PRIME	chr11	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(9): Show a0002 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0017	a0002c0002 a0002c0008 a0003c0004 others(16): Show a0002c0002 a0002c0008 a0003c0004 a0003c0009 a0003c0012 a0003c0015 a0005c0006 a0005c0007 a0007c0011 a0007c0014 a0008c0010 a0008c0022 a0010c0026 a0011c0017 a0012c0016 a0013c0023 a0014c0020 a0015c0021 a0017c0019	a0002c0002t0001 a0002c0008t0001 a0003c0004t0001 others(16): Show a0002c0002t0001 a0002c0008t0001 a0003c0004t0001 a0003c0009t0001 a0003c0012t0001 a0003c0015t0001 a0005c0006t0001 a0005c0007t0001 a0007c0011t0001 a0007c0014t0001 a0008c0010t0001 a0008c0022t0001 a0010c0026t0001 a0011c0017t0001 a0012c0016t0001 a0013c0023t0001 a0014c0020t0001 a0015c0021t0001 a0017c0019t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0144 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0213 a0002c0002t0001g0224 a0002c0008t0001g0009 a0002c0008t0001g0173 a0002c0008t0001g0174 a0002c0008t0001g0184 a0002c0008t0001g0188 a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0024 a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0197 a0003c0009t0001g0002 a0003c0009t0001g0010 a0003c0009t0001g0122 a0003c0012t0001g0034 a0003c0012t0001g0107 a0003c0012t0001g0110 a0003c0015t0001g0002 a0005c0006t0001g0028 a0005c0006t0001g0043 a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 a0005c0006t0001g0075 a0005c0006t0001g0076 a0005c0006t0001g0083 a0005c0006t0001g0086 a0005c0006t0001g0089 a0005c0006t0001g0169 a0005c0006t0001g0177 a0005c0006t0001g0198 a0005c0006t0001g0215 a0005c0006t0001g0216 a0005c0006t0001g0217 a0005c0006t0001g0218 a0005c0007t0001g0013 a0005c0007t0001g0029 a0005c0007t0001g0078 a0005c0007t0001g0080 a0005c0007t0001g0081 a0005c0007t0001g0163 a0005c0007t0001g0209 a0005c0007t0001g0210 a0005c0007t0001g0211 a0005c0007t0001g0214 a0005c0007t0001g0219 a0005c0007t0001g0223 a0005c0007t0001g0234 a0007c0011t0001g0053 a0007c0011t0001g0058 a0007c0011t0001g0061 a0007c0011t0001g0062 a0007c0011t0001g0090 a0007c0011t0001g0152 a0007c0014t0001g0028 a0007c0014t0001g0149 a0008c0010t0001g0020 a0008c0010t0001g0189 a0008c0010t0001g0212 a0008c0010t0001g0220 a0008c0022t0001g0181 a0010c0026t0001g0003 a0011c0017t0001g0033 a0012c0016t0001g0141 a0013c0023t0001g0014 a0014c0020t0001g0221 a0015c0021t0001g0003 a0017c0019t0001g0225	232	438	0.5297	1	c.127 others(5): Show c.1271dupC	p.Asp others(5): Show p.Asp425fs	RHBG	ENSG00000132677.13	transcript	ENST00000537040.6	protein_coding	9/10	1311/1790	1272/1377	424/458	INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF17_chr13_24759169_24884921	24850445	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00673.hp2 HG01943.hp1 HG01993.hp2 others(32): Show HG00673.hp2 HG01943.hp1 HG01993.hp2 HG02300.hp2 HG02523.hp1 HG04184.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18964.hp2 NA18970.hp2 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18993.hp1 NA18995.hp2 NA19006.hp2 NA19010.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0026 a0005c0005t0001g0095 others(31): Show a0005c0005t0001g0001 a0005c0005t0001g0026 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0001g0097 a0005c0005t0001g0098 a0005c0005t0001g0099 a0005c0005t0001g0100 a0005c0005t0001g0101 a0005c0005t0001g0102 a0005c0005t0001g0103 a0005c0005t0001g0397 a0005c0005t0001g0398 a0005c0005t0001g0399 a0005c0005t0001g0400 a0005c0005t0001g0401 a0005c0005t0001g0402 a0005c0005t0001g0403 a0005c0005t0001g0404 a0005c0005t0001g0405 a0005c0005t0001g0406 a0005c0005t0001g0407 a0005c0005t0001g0408 a0005c0005t0001g0409 a0005c0005t0001g0410 a0005c0005t0001g0411 a0005c0005t0001g0412 a0005c0005t0001g0413 a0005c0005t0001g0414 a0005c0005t0001g0415 a0005c0005t0001g0416 a0005c0005t0001g0417 a0005c0005t0001g0418 a0005c0005t0001g0419	35	426	0.0822	0	c.320 others(6): Show c.3204+2T>C		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	23/35					chr13	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(90): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCCTCTTCTTGCAGCCCTTCTTCTGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0145 a0008c0145	a0008c0145t0002 a0008c0145t0002	a0008c0145t0002g0180 a0008c0145t0002g0180	1	414	0.0024	97	c.402 others(106): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGGTGCAGTT AGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAG AGGGGACTAAA	p.Glu others(6): Show p.Glu1343fs	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10622785	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 NA18941.hp2 NA18954.hp2 others(7): Show HG02074.hp1 NA18941.hp2 NA18954.hp2 NA18960.hp2 NA18970.hp2 NA18984.hp1 NA18985.hp1 NA18999.hp1 NA19055.hp1 NA19057.hp2	a0008 a0008	a0008c0138 a0008c0139 a0008c0140 others(7): Show a0008c0138 a0008c0139 a0008c0140 a0008c0141 a0008c0142 a0008c0143 a0008c0144 a0008c0145 a0008c0146 a0008c0147	a0008c0138t0003 a0008c0139t0002 a0008c0140t0002 others(7): Show a0008c0138t0003 a0008c0139t0002 a0008c0140t0002 a0008c0141t0002 a0008c0142t0002 a0008c0143t0001 a0008c0144t0001 a0008c0145t0002 a0008c0146t0001 a0008c0147t0001	a0008c0138t0003g0346 a0008c0139t0002g0116 a0008c0140t0002g0044 others(7): Show a0008c0138t0003g0346 a0008c0139t0002g0116 a0008c0140t0002g0044 a0008c0141t0002g0184 a0008c0142t0002g0098 a0008c0143t0001g0188 a0008c0144t0001g0112 a0008c0145t0002g0180 a0008c0146t0001g0238 a0008c0147t0001g0207	10	414	0.0242	1	c.416 others(4): Show c.416dupC	p.Gly others(5): Show p.Gly140fs	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	2/4	681/8014	416/7203	139/2400		chr8	TogoVar
RPS4X_chrX_72267042_72282248	72273882	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0034 a0004c0005t0002g0034	1	316	0.0032	1	c.450 others(4): Show c.450dupC	p.Asp others(5): Show p.Asp151fs	RPS4X	ENSG00000198034.11	transcript	ENST00000316084.10	protein_coding	5/7	503/1474	450/792	150/263		chrX	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TAAA TAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show HG00280.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01099.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02559.hp1 HG02717.hp2 HG02965.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0004 a0001c0011 others(3): Show a0001c0001 a0001c0004 a0001c0011 a0001c0015 a0006c0010 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0004t0001 a0001c0011t0001 a0001c0015t0003 a0006c0010t0001 a0007c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(101): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0358 a0001c0001t0001g0372 a0001c0001t0002g0100 a0001c0001t0002g0123 a0001c0001t0004g0016 a0001c0001t0004g0238 a0001c0001t0005g0152 a0001c0001t0005g0194 a0001c0001t0005g0203 a0001c0001t0008g0217 a0001c0004t0001g0020 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0138 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0293 a0001c0011t0001g0254 a0001c0015t0003g0376 a0006c0010t0001g0047 a0007c0008t0001g0081	104	386	0.2694	3	c.100 others(16): Show c.1002-4_1002-2dupAAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr13	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0008 a0010 a0011 a0012	a0002c0002 a0002c0022 a0003c0003 others(5): Show a0002c0002 a0002c0022 a0003c0003 a0005c0011 a0008c0015 a0010c0023 a0011c0024 a0012c0025	a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 others(9): Show a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0011 a0005c0011t0002 a0008c0015t0002 a0010c0023t0002 a0011c0024t0002 a0012c0025t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0022t0002g0290 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0294 a0003c0003t0005g0195 a0003c0003t0006g0196 a0003c0003t0007g0250 a0003c0003t0011g0312 a0005c0011t0002g0225 a0005c0011t0002g0275 a0005c0011t0002g0285 a0008c0015t0002g0220 a0008c0015t0002g0277 a0010c0023t0002g0229 a0011c0024t0002g0284 a0012c0025t0002g0263	117	312	0.3750	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400		chr15	TogoVar
SH3RF2_chr5_145931578_146068292	146056130	TAGTCAAC others(3): Show TAGTCAACCCC	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0002 a0017c0015t0002	a0017c0015t0002g0184 a0017c0015t0002g0184	1	272	0.0037	-10	c.147 others(19): Show c.1473_1482delAGTCAACCCC	p.Ile others(5): Show p.Ile491fs	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	8/10	1696/3004	1473/2190	491/729		chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77698132	T T	TGG TGG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(279): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0003g0010 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0005g0222 a0001c0001t0006g0082 a0001c0001t0007g0155 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0016 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0228 a0002c0002t0002g0158 a0003c0006t0001g0052	299	300	0.9967	2	c.220 others(9): Show c.220_221dupGG	p.Leu others(4): Show p.Leu75fs	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/7	449/3009	222/1773	74/590	INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77698141	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(279): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0003g0010 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0005g0222 a0001c0001t0006g0082 a0001c0001t0007g0155 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0016 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0228 a0002c0002t0002g0158 a0003c0006t0001g0052	299	300	0.9967	1	c.230 others(4): Show c.230dupC	p.Leu others(4): Show p.Leu78fs	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/7	458/3009	231/1773	77/590	INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A14_chr3_38277294_38323575	38307252	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp1 HG00621.hp1 HG00735.hp2 others(42): Show HG00609.hp1 HG00621.hp1 HG00735.hp2 HG01175.hp2 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02523.hp1 HG03834.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0030	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0030c0037	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0002 a0030c0037t0002	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0199 others(35): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0199 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0159 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0261 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0212 a0002c0002t0001g0234 a0003c0003t0002g0161 a0003c0003t0002g0203 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0219 a0030c0037t0002g0200	45	406	0.1108	0	c.517 others(5): Show c.517-2A>C		SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	2/10					chr3	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0010 a0011 a0013 a0018	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0010c0016 a0011c0019 a0013c0020 a0018c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0010c0016t0001 a0011c0019t0001 a0013c0020t0001 a0018c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0007t0001g0007 a0002c0007t0001g0071 a0002c0017t0001g0069 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0059 a0006c0011t0001g0030 a0006c0011t0001g0063 a0006c0023t0001g0064 a0010c0016t0001g0031 a0011c0019t0001g0073 a0013c0020t0001g0037 a0018c0024t0001g0074	173	428	0.4042	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446		chr16	TogoVar
SLC22A31_chr16_89190761_89205537	89198106	GGGGCCCC others(11): Show GGGGCCCCAAGCTCACACT	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00673.hp1 HG01928.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18952.hp2 NA18961.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp1 NA20905.hp1	a0004 a0017 a0004 a0017	a0004c0006 a0004c0009 a0017c0022 a0004c0006 a0004c0009 a0017c0022	a0004c0006t0001 a0004c0009t0001 a0017c0022t0001 a0004c0006t0001 a0004c0009t0001 a0017c0022t0001	a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 others(1): Show a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 a0017c0022t0001g0028	31	428	0.0724	-18	c.920 others(28): Show c.920_922+15delAGTGTGAGCTTGGGGCCC	p.Gln others(19): Show p.Gln307_Tyr308delinsHis	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	7/9		920/1341	307/446		chr16	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0009c0012 a0011c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0006c0006t0001g0001 a0007c0008t0001g0001 a0008c0007t0001g0001 a0009c0012t0001g0001 a0011c0014t0001g0001	317	412	0.7694	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338		chr17	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0041 a0006c0008 a0006c0021 a0006c0045 a0006c0046 a0006c0047 a0006c0048 a0007c0007 a0008c0015 a0008c0022 a0008c0050 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0041t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0045t0003 a0006c0046t0004 a0006c0047t0004 a0006c0048t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0050t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 others(157): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0108 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0310 a0001c0002t0001g0326 a0001c0002t0001g0342 a0001c0002t0001g0393 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0105 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0322 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0352 a0001c0002t0002g0365 a0001c0002t0002g0374 a0001c0002t0002g0388 a0001c0002t0002g0389 a0001c0005t0001g0152 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0025 a0001c0005t0002g0103 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0005t0002g0315 a0001c0005t0002g0349 a0001c0005t0002g0350 a0001c0005t0002g0351 a0001c0005t0002g0353 a0001c0005t0002g0362 a0001c0005t0002g0369 a0001c0009t0001g0137 a0001c0009t0002g0047 a0001c0009t0002g0139 a0001c0009t0002g0141 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0009t0002g0148 a0001c0009t0002g0159 a0001c0009t0002g0160 a0001c0009t0002g0161 a0001c0016t0001g0001 a0001c0016t0001g0069 a0001c0016t0001g0348 a0001c0016t0001g0368 a0001c0029t0002g0276 a0001c0041t0004g0296 a0006c0008t0003g0179 a0006c0008t0003g0213 a0006c0008t0003g0215 a0006c0008t0003g0226 a0006c0008t0003g0228 a0006c0008t0003g0230 a0006c0008t0003g0246 a0006c0008t0004g0192 a0006c0008t0004g0194 a0006c0008t0004g0225 a0006c0008t0004g0233 a0006c0021t0004g0184 a0006c0021t0004g0185 a0006c0021t0004g0186 a0006c0045t0003g0008 a0006c0046t0004g0188 a0006c0047t0004g0238 a0006c0048t0004g0229 a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0014 a0007c0007t0002g0021 a0007c0007t0002g0049 a0007c0007t0002g0070 a0007c0007t0002g0072 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0084 a0007c0007t0002g0341 a0007c0007t0002g0363 a0007c0007t0002g0364 a0008c0015t0004g0248 a0008c0015t0004g0253 a0008c0015t0004g0254 a0008c0015t0004g0255 a0008c0015t0004g0257 a0008c0022t0003g0256 a0008c0022t0003g0259 a0008c0022t0004g0261 a0008c0050t0004g0264 a0010c0012t0003g0032 a0010c0012t0003g0240 a0010c0012t0003g0241 a0010c0012t0003g0242 a0010c0012t0004g0239 a0010c0012t0004g0243 a0013c0018t0004g0031 a0013c0018t0004g0214 a0013c0018t0004g0227 a0015c0024t0002g0011	181	456	0.3969	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628		chr5	TogoVar
SLFNL1_chr1_41010597_41026725	41017902	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG03098.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19059.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2	a0002 a0005 a0007 others(3): Show a0002 a0005 a0007 a0014 a0015 a0017	a0002c0002 a0002c0022 a0005c0007 others(6): Show a0002c0002 a0002c0022 a0005c0007 a0005c0011 a0005c0019 a0007c0008 a0014c0021 a0015c0020 a0017c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0022t0003 a0005c0007t0001 a0005c0011t0001 a0005c0011t0004 a0005c0019t0001 a0007c0008t0004 a0007c0008t0006 a0014c0021t0001 a0015c0020t0003 a0017c0015t0007	a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0095 a0002c0002t0001g0104 a0002c0002t0001g0110 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0003g0021 a0002c0002t0003g0041 a0002c0002t0003g0055 a0002c0002t0005g0047 a0002c0002t0005g0049 a0002c0022t0003g0097 a0005c0007t0001g0011 a0005c0007t0001g0060 a0005c0007t0001g0067 a0005c0011t0001g0065 a0005c0011t0004g0052 a0005c0019t0001g0057 a0007c0008t0004g0024 a0007c0008t0006g0032 a0014c0021t0001g0091 a0015c0020t0003g0100 a0017c0015t0007g0088	60	430	0.1395	1	c.689 others(4): Show c.689dupG	p.Ser others(5): Show p.Ser231fs	SLFNL1	ENSG00000171790.16	transcript	ENST00000302946.13	protein_coding	4/6	917/1961	689/1224	230/407		chr1	TogoVar
SMARCA1_chrX_129441506_129528490	129468800	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0043 a0005c0006t0002g0043	1	279	0.0036	1	c.267 others(5): Show c.2670dupA	p.Ser others(5): Show p.Ser891fs	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	21/25	2790/3989	2670/3213	890/1070		chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2086946	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00741.hp2 HG01928.hp2 others(6): Show HG00642.hp1 HG00741.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02055.hp2 HG02109.hp2 NA18985.hp2 NA19030.hp1	a0005 a0021 a0005 a0021	a0005c0018 a0005c0019 a0005c0028 others(2): Show a0005c0018 a0005c0019 a0005c0028 a0005c0052 a0021c0061	a0005c0018t0001 a0005c0018t0002 a0005c0019t0001 others(4): Show a0005c0018t0001 a0005c0018t0002 a0005c0019t0001 a0005c0019t0002 a0005c0028t0001 a0005c0052t0002 a0021c0061t0002	a0005c0018t0001g0179 a0005c0018t0001g0231 a0005c0018t0002g0246 others(6): Show a0005c0018t0001g0179 a0005c0018t0001g0231 a0005c0018t0002g0246 a0005c0019t0001g0014 a0005c0019t0001g0287 a0005c0019t0002g0302 a0005c0028t0001g0234 a0005c0052t0002g0244 a0021c0061t0002g0303	9	316	0.0285	1	c.264 others(5): Show c.2648dupC	p.Leu others(5): Show p.Leu884fs	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	18/34	2743/5748	2649/4773	883/1590	INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0067 a0001c0001t0071 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0101 a0001c0001t0103 a0001c0001t0112 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0126 a0001c0001t0130 a0001c0001t0137 a0001c0001t0179 a0001c0006t0097 a0001c0007t0001 a0002c0002t0048	a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 others(82): Show a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0142 a0001c0001t0003g0153 a0001c0001t0004g0139 a0001c0001t0004g0316 a0001c0001t0005g0140 a0001c0001t0005g0150 a0001c0001t0006g0189 a0001c0001t0009g0008 a0001c0001t0011g0243 a0001c0001t0011g0262 a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0011g0276 a0001c0001t0013g0171 a0001c0001t0015g0296 a0001c0001t0016g0324 a0001c0001t0018g0315 a0001c0001t0019g0263 a0001c0001t0019g0269 a0001c0001t0019g0277 a0001c0001t0019g0278 a0001c0001t0019g0279 a0001c0001t0023g0331 a0001c0001t0025g0135 a0001c0001t0025g0185 a0001c0001t0026g0114 a0001c0001t0026g0133 a0001c0001t0027g0343 a0001c0001t0027g0347 a0001c0001t0027g0348 a0001c0001t0028g0144 a0001c0001t0033g0223 a0001c0001t0041g0345 a0001c0001t0042g0112 a0001c0001t0042g0151 a0001c0001t0045g0288 a0001c0001t0045g0332 a0001c0001t0046g0192 a0001c0001t0055g0115 a0001c0001t0055g0124 a0001c0001t0057g0294 a0001c0001t0059g0206 a0001c0001t0060g0260 a0001c0001t0060g0261 a0001c0001t0067g0361 a0001c0001t0071g0152 a0001c0001t0073g0344 a0001c0001t0081g0009 a0001c0001t0082g0123 a0001c0001t0084g0138 a0001c0001t0086g0131 a0001c0001t0090g0285 a0001c0001t0094g0336 a0001c0001t0095g0334 a0001c0001t0096g0333 a0001c0001t0101g0203 a0001c0001t0103g0274 a0001c0001t0112g0208 a0001c0001t0120g0335 a0001c0001t0121g0268 a0001c0001t0123g0339 a0001c0001t0124g0275 a0001c0001t0126g0270 a0001c0001t0130g0267 a0001c0001t0137g0338 a0001c0001t0179g0257 a0001c0006t0097g0337 a0001c0007t0001g0134 a0002c0002t0048g0219	85	366	0.2322	1	c.124 others(7): Show c.1240-3dupT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11				INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT2_chr12_53098486_53129535	53115655	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	410	0.0024	0	c.708 others(5): Show c.708+1G>T		SOAT2	ENSG00000167780.12	transcript	ENST00000301466.8	protein_coding	6/14					chr12	TogoVar
SOX9_chr17_72116020_72131416	72123889	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01496.hp1 HG02071.hp2 HG02145.hp1 others(8): Show HG01496.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02572.hp2 HG02738.hp1 HG03654.hp2 NA18985.hp1 NA18991.hp2 NA19063.hp2 NA19072.hp1	a0000 a0000	a0000c0003 a0000c0008 a0000c0015 a0000c0003 a0000c0008 a0000c0015	a0000c0003t0001 a0000c0003t0002 a0000c0003t0003 others(6): Show a0000c0003t0001 a0000c0003t0002 a0000c0003t0003 a0000c0003t0004 a0000c0003t0007 a0000c0003t0008 a0000c0003t0020 a0000c0008t0004 a0000c0015t0033	a0000c0003t0001g0002 a0000c0003t0002g0001 a0000c0003t0003g0001 others(6): Show a0000c0003t0001g0002 a0000c0003t0002g0001 a0000c0003t0003g0001 a0000c0003t0004g0001 a0000c0003t0007g0001 a0000c0003t0008g0003 a0000c0003t0020g0002 a0000c0008t0004g0001 a0000c0015t0033g0001	11	402	0.0274	1	c.103 others(5): Show c.1037dupC	p.Gln others(5): Show p.Gln347fs	SOX9	ENSG00000125398.8	transcript	ENST00000245479.3	protein_coding	3/3	1410/3931	1038/1530	346/509	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPATA21_chr1_16393643_16442424	16398776	G G	A A	stop_gained stop_gained	HIGH	NA18940.hp2 NA18945.hp1 NA18961.hp2 others(6): Show NA18940.hp2 NA18945.hp1 NA18961.hp2 NA18982.hp1 NA18985.hp2 NA19000.hp2 NA19010.hp1 NA19065.hp1 NA19085.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0120 a0006c0006t0002g0276 a0006c0006t0002g0277 others(6): Show a0006c0006t0001g0120 a0006c0006t0002g0276 a0006c0006t0002g0277 a0006c0006t0002g0278 a0006c0006t0002g0280 a0006c0006t0002g0281 a0006c0006t0002g0282 a0006c0006t0002g0295 a0006c0006t0002g0297	9	352	0.0256	0	c.139 others(4): Show c.1399C>T	p.Arg others(4): Show p.Arg467*	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	13/13	1882/2015	1399/1410	467/469		chr1	TogoVar
SPDYE21_chr7_67271941_67294005	67281505	T T	TGGGTGGC TGGGTGGC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2	a0002 a0009 a0012 others(2): Show a0002 a0009 a0012 a0015 a0016	a0002c0002 a0002c0010 a0009c0011 others(3): Show a0002c0002 a0002c0010 a0009c0011 a0012c0019 a0015c0015 a0016c0014	a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 others(6): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0010t0001 a0002c0010t0020 a0009c0011t0001 a0012c0019t0001 a0015c0015t0001 a0016c0014t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0077 a0002c0002t0017g0087 a0002c0010t0001g0003 a0002c0010t0001g0012 a0002c0010t0001g0037 a0002c0010t0001g0038 a0002c0010t0020g0003 a0009c0011t0001g0001 a0009c0011t0001g0012 a0009c0011t0001g0071 a0012c0019t0001g0001 a0015c0015t0001g0013 a0016c0014t0001g0004	131	460	0.2848	7	c.514 others(14): Show c.514_520dupGTGGCGG	p.Glu others(5): Show p.Glu174fs	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	4/9	1065/3286	521/1209	174/402	INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102551289	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00609.hp2 HG01070.hp1 HG01515.hp2 others(24): Show HG00609.hp2 HG01070.hp1 HG01515.hp2 HG01928.hp2 HG02056.hp1 HG02602.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp2 HG04204.hp2 NA18945.hp2 NA18948.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18985.hp2 NA19030.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0011 a0015 a0020 a0021 a0022	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0006c0010 a0011c0015 a0015c0021 a0020c0029 a0021c0030 a0022c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0002c0002t0003 a0003c0003t0002 a0003c0003t0003 a0005c0004t0004 a0006c0010t0001 a0006c0010t0025 a0011c0015t0004 a0015c0021t0003 a0020c0029t0002 a0021c0030t0003 a0022c0031t0004	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(24): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0015g0023 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0003g0024 a0003c0003t0003g0025 a0005c0004t0004g0026 a0005c0004t0004g0036 a0006c0010t0001g0034 a0006c0010t0001g0035 a0006c0010t0025g0033 a0011c0015t0004g0018 a0011c0015t0004g0019 a0015c0021t0003g0037 a0020c0029t0002g0044 a0021c0030t0003g0029 a0022c0031t0004g0020	27	164	0.1646	0	c.-42 others(6): Show c.-422+1G>C		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	1/8					chr7	TogoVar
SPON2_chr4_1161932_1177583	1171887	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG01074.hp1 HG01257.hp2 HG01978.hp2 others(15): Show HG01074.hp1 HG01257.hp2 HG01978.hp2 HG02300.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18959.hp2 NA18961.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18985.hp1 NA19000.hp2 NA19030.hp1 NA19074.hp1 NA19080.hp1 NA19086.hp1	a0004 a0006 a0004 a0006	a0004c0006 a0004c0009 a0004c0012 others(4): Show a0004c0006 a0004c0009 a0004c0012 a0004c0015 a0004c0016 a0004c0017 a0006c0022	a0004c0006t0001 a0004c0009t0001 a0004c0012t0001 others(4): Show a0004c0006t0001 a0004c0009t0001 a0004c0012t0001 a0004c0015t0001 a0004c0016t0003 a0004c0017t0001 a0006c0022t0001	a0004c0006t0001g0010 a0004c0006t0001g0017 a0004c0009t0001g0024 others(6): Show a0004c0006t0001g0010 a0004c0006t0001g0017 a0004c0009t0001g0024 a0004c0009t0001g0040 a0004c0012t0001g0039 a0004c0015t0001g0049 a0004c0016t0003g0073 a0004c0017t0001g0072 a0006c0022t0001g0030	18	432	0.0417	1	c.184 others(4): Show c.184dupC	p.Leu others(4): Show p.Leu62fs	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding	2/6	227/1579	184/996	62/331		chr4	TogoVar
SPSB2_chr12_6865935_6878303	6872998	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00741.hp2 HG01243.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19062.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0003g0003 a0001c0001t0004g0009 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0003t0001g0010 a0002c0002t0001g0008 a0002c0002t0001g0015	77	398	0.1935	0	c.-96 others(5): Show c.-96-1G>A		SPSB2	ENSG00000111671.10	transcript	ENST00000524270.6	protein_coding	1/2					chr12	TogoVar
SRSF3_chr6_36589362_36610600	36601940	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0045 a0001c0003t0002	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0051 others(85): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0003g0031 a0001c0001t0003g0092 a0001c0001t0003g0108 a0001c0001t0012g0164 a0001c0001t0012g0173 a0001c0001t0015g0069 a0001c0001t0015g0071 a0001c0001t0017g0128 a0001c0001t0017g0129 a0001c0001t0019g0078 a0001c0001t0022g0167 a0001c0001t0023g0074 a0001c0001t0025g0190 a0001c0001t0026g0165 a0001c0001t0027g0146 a0001c0001t0028g0161 a0001c0001t0035g0079 a0001c0001t0036g0080 a0001c0001t0043g0117 a0001c0001t0045g0192 a0001c0003t0002g0036 a0001c0003t0002g0176	98	382	0.2565	1	c.468 others(6): Show c.468-3dupT		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	5/5				INFO_REALIGN_3_PRIME	chr6	TogoVar
TAMALIN_chr12_52001946_52020889	52014908	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show HG00423.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02886.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18944.hp2 NA18956.hp2 NA18960.hp1 NA18985.hp2 NA18997.hp1 NA19010.hp1 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19082.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0013 a0002c0002 a0002c0006 a0005c0013	a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0005c0013t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(15): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0023 a0002c0002t0001g0029 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0075 a0002c0002t0002g0003 a0002c0006t0001g0002 a0005c0013t0001g0003	35	380	0.0921	1	c.902 others(4): Show c.902dupC	p.Pro others(5): Show p.Pro302fs	TAMALIN	ENSG00000161835.11	transcript	ENST00000293662.9	protein_coding	8/8	977/1952	903/1188	301/395	INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D31_chr8_123067707_123157153	123142457	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0025 a0010c0020	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0002c0006t0001 a0002c0025t0001 a0010c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0172 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0268 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0008t0001g0042 a0001c0008t0001g0045 a0001c0008t0001g0049 a0001c0008t0001g0060 a0001c0008t0001g0238 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0012t0001g0304 a0001c0012t0001g0305 a0001c0013t0001g0127 a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 a0002c0006t0001g0074 a0002c0006t0001g0249 a0002c0006t0001g0269 a0002c0006t0001g0316 a0002c0025t0001g0267 a0010c0020t0001g0222	89	322	0.2764	0	c.283 others(6): Show c.2835+1G>T		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	19/21					chr8	TogoVar
TBKBP1_chr17_47689161_47717052	47708849	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00642.hp1 HG00673.hp1 others(5): Show HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG02055.hp2 NA18985.hp2 NA19070.hp2	a0007 a0009 a0016 a0007 a0009 a0016	a0007c0008 a0009c0010 a0016c0022 a0007c0008 a0009c0010 a0016c0022	a0007c0008t0001 a0009c0010t0001 a0016c0022t0001 a0007c0008t0001 a0009c0010t0001 a0016c0022t0001	a0007c0008t0001g0003 a0007c0008t0001g0069 a0007c0008t0001g0097 others(5): Show a0007c0008t0001g0003 a0007c0008t0001g0069 a0007c0008t0001g0097 a0007c0008t0001g0146 a0009c0010t0001g0226 a0009c0010t0001g0236 a0009c0010t0001g0253 a0016c0022t0001g0240	8	386	0.0207	1	c.111 others(5): Show c.1119dupC	p.Val others(5): Show p.Val374fs	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	9/10	1188/3342	1120/1848	374/615	INFO_REALIGN_3_PRIME	chr17	TogoVar
TBKBP1_chr17_47689161_47717052	47709026	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02523.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18941.hp2 NA18964.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19064.hp1 NA19080.hp2 NA19082.hp1	a0002 a0003 a0007 others(6): Show a0002 a0003 a0007 a0013 a0014 a0015 a0016 a0018 a0019	a0002c0005 a0002c0011 a0002c0023 others(10): Show a0002c0005 a0002c0011 a0002c0023 a0002c0024 a0003c0004 a0003c0020 a0007c0008 a0013c0016 a0014c0021 a0015c0029 a0016c0022 a0018c0031 a0019c0019	a0002c0005t0001 a0002c0005t0005 a0002c0011t0001 others(12): Show a0002c0005t0001 a0002c0005t0005 a0002c0011t0001 a0002c0023t0001 a0002c0024t0001 a0003c0004t0001 a0003c0004t0003 a0003c0020t0001 a0007c0008t0001 a0013c0016t0002 a0014c0021t0004 a0015c0029t0001 a0016c0022t0001 a0018c0031t0001 a0019c0019t0014	a0002c0005t0001g0003 a0002c0005t0001g0007 a0002c0005t0001g0022 others(36): Show a0002c0005t0001g0003 a0002c0005t0001g0007 a0002c0005t0001g0022 a0002c0005t0001g0036 a0002c0005t0001g0044 a0002c0005t0001g0065 a0002c0005t0001g0074 a0002c0005t0001g0096 a0002c0005t0001g0119 a0002c0005t0001g0144 a0002c0005t0005g0088 a0002c0011t0001g0040 a0002c0011t0001g0076 a0002c0011t0001g0125 a0002c0023t0001g0013 a0002c0024t0001g0083 a0003c0004t0001g0002 a0003c0004t0001g0017 a0003c0004t0001g0052 a0003c0004t0001g0060 a0003c0004t0001g0158 a0003c0004t0001g0202 a0003c0004t0001g0210 a0003c0004t0001g0231 a0003c0004t0001g0251 a0003c0004t0001g0258 a0003c0004t0003g0054 a0003c0020t0001g0171 a0007c0008t0001g0003 a0007c0008t0001g0069 a0007c0008t0001g0097 a0007c0008t0001g0146 a0013c0016t0002g0180 a0013c0016t0002g0186 a0014c0021t0004g0190 a0015c0029t0001g0027 a0016c0022t0001g0240 a0018c0031t0001g0024 a0019c0019t0014g0193	40	386	0.1036	1	c.129 others(5): Show c.1298dupC	p.Pro others(5): Show p.Pro434fs	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	9/10	1367/3342	1299/1848	433/615	INFO_REALIGN_3_PRIME	chr17	TogoVar
TCHHL1_chr1_152079141_152094064	152085716	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG01167.hp1 HG01169.hp1 others(26): Show HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02074.hp2 HG02300.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19012.hp1 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	29	376	0.0771	0	c.196 others(4): Show c.1966C>T	p.Gln others(4): Show p.Gln656*	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding	3/3	2031/3606	1966/2715	656/904		chr1	TogoVar
TFDP3_chrX_133211662_133223354	133217319	A A	AGGTCTTC others(22): Show AGGTCTTCGGCAGAGCAGCTCCCGGACTCT	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0000 a0007c0008t0002g0000	1	256	0.0039	29	c.912 others(36): Show c.912_940dupAGAGTCCGGGAGCTGCTCTGCCGAAGACC	p.Leu others(5): Show p.Leu314fs	TFDP3	ENSG00000183434.10	transcript	ENST00000310125.5	protein_coding	1/1	1035/1693	940/1218	314/405		chrX	TogoVar
TGIF2LY_chrY_3574067_3585041	3579632	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0002 a0000c0003t0002	a0000c0003t0002g0002 a0000c0003t0002g0002	1	131	0.0076	1	c.391 others(4): Show c.391dupC	p.His others(5): Show p.His131fs	TGIF2LY	ENSG00000176679.9	transcript	ENST00000321217.5	protein_coding	2/2	474/879	392/558	131/185	INFO_REALIGN_3_PRIME	chrY	TogoVar
TKTL1_chrX_154290795_154335350	154310958	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	272	0.0037	-1	c.476 others(4): Show c.476delG	p.Gly others(5): Show p.Gly159fs	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	4/13	541/2518	476/1791	159/596	INFO_REALIGN_3_PRIME	chrX	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0024 a0004c0014 a0005c0018 a0009c0023 a0010c0022	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0004t0014 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0024t0001 a0004c0014t0001 a0005c0018t0007 a0009c0023t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0014g0003 a0001c0007t0002g0013 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0066 a0001c0015t0005g0037 a0001c0015t0005g0067 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0024t0001g0011 a0004c0014t0001g0056 a0004c0014t0001g0057 a0004c0014t0001g0058 a0005c0018t0007g0059 a0005c0018t0007g0073 a0009c0023t0001g0001 a0010c0022t0001g0074	165	303	0.5446	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041		chrX	TogoVar
TPST2_chr22_26516996_26595132	26541248	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02145.hp1 HG02622.hp1 HG03098.hp1 HG03225.hp1 HG03654.hp1 HG03927.hp2 NA18948.hp1 NA18964.hp1 NA18985.hp1 NA18987.hp2 NA19011.hp2 NA19078.hp2 NA19086.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0012 others(1): Show a0002c0002 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0002c0002t0013 a0002c0002t0015 a0002c0002t0023 a0002c0002t0028 a0002c0002t0042 a0002c0011t0004 a0002c0012t0004 a0002c0013t0004	a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0092 others(23): Show a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0092 a0002c0002t0001g0101 a0002c0002t0002g0126 a0002c0002t0002g0323 a0002c0002t0003g0287 a0002c0002t0004g0048 a0002c0002t0004g0121 a0002c0002t0004g0380 a0002c0002t0005g0143 a0002c0002t0007g0041 a0002c0002t0007g0057 a0002c0002t0007g0157 a0002c0002t0007g0174 a0002c0002t0012g0011 a0002c0002t0013g0385 a0002c0002t0015g0075 a0002c0002t0015g0152 a0002c0002t0015g0155 a0002c0002t0023g0246 a0002c0002t0028g0388 a0002c0002t0042g0260 a0002c0011t0004g0055 a0002c0012t0004g0197 a0002c0013t0004g0029	26	400	0.0650	1	c.382 others(4): Show c.382dupG	p.Val others(5): Show p.Val128fs	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding	3/7	622/5653	382/1134	128/377		chr22	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0009c0013 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0009c0013t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0054 a0001c0006t0003g0032 a0001c0006t0003g0044 a0001c0006t0003g0098 a0001c0006t0003g0099 a0001c0011t0001g0126 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0005c0007t0001g0112 a0005c0007t0001g0113 a0005c0007t0001g0114 a0006c0008t0001g0122 a0006c0008t0001g0125 a0007c0009t0001g0121 a0008c0017t0001g0123 a0009c0013t0001g0133 a0010c0012t0001g0136	274	424	0.6462	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
TRIM51G_chr11_48970498_48988885	48979006	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0002 a0012 a0013 a0002 a0012 a0013	a0002c0002 a0002c0004 a0002c0015 others(3): Show a0002c0002 a0002c0004 a0002c0015 a0002c0016 a0012c0018 a0013c0010	a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 others(3): Show a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 a0002c0016t0002 a0012c0018t0002 a0013c0010t0002	a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(58): Show a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0004t0002g0010 a0002c0004t0002g0016 a0002c0004t0002g0038 a0002c0004t0002g0039 a0002c0004t0002g0042 a0002c0004t0002g0055 a0002c0004t0002g0057 a0002c0004t0002g0065 a0002c0004t0002g0074 a0002c0004t0002g0077 a0002c0004t0002g0079 a0002c0004t0002g0081 a0002c0004t0002g0082 a0002c0004t0002g0086 a0002c0004t0002g0094 a0002c0004t0002g0095 a0002c0004t0002g0096 a0002c0015t0002g0064 a0002c0016t0002g0083 a0012c0018t0002g0067 a0013c0010t0002g0062	139	424	0.3278	0	c.604 others(3): Show c.604C>T	p.Gln others(4): Show p.Gln202*	TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/7	755/1510	604/1359	202/452		chr11	TogoVar
TSC22D3_chrX_107708221_107780787	107775222	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0207 a0002c0003t0007g0207	1	216	0.0046	1	c.197 others(8): Show c.197_198insT	p.Ser others(4): Show p.Ser67fs	TSC22D3	ENSG00000157514.18	transcript	ENST00000372383.9	protein_coding	1/3	565/2269	197/603	66/200		chrX	TogoVar
TSC22D3_chrX_107708221_107780787	107775381	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0207 a0002c0003t0007g0207	1	216	0.0046	-1	c.38d others(3): Show c.38delG	p.Gly others(4): Show p.Gly13fs	TSC22D3	ENSG00000157514.18	transcript	ENST00000372383.9	protein_coding	1/3	406/2269	38/603	13/200		chrX	TogoVar
TSPAN7_chrX_38556542_38693918	38681226	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0173 a0002c0004t0001g0173	1	223	0.0045	1	c.623 others(4): Show c.623dupT	p.Met others(5): Show p.Met209fs	TSPAN7	ENSG00000156298.13	transcript	ENST00000378482.7	protein_coding	6/8	629/1742	624/750	208/249	INFO_REALIGN_3_PRIME	chrX	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0034 a0001c0011t0002g0014 a0001c0013t0002g0027 a0001c0013t0002g0041 a0001c0015t0002g0029 a0001c0031t0002g0035 a0001c0032t0002g0036 a0001c0033t0002g0039 a0001c0034t0002g0040 a0001c0035t0002g0042 a0001c0036t0002g0044 a0001c0037t0002g0045 a0001c0038t0002g0047 a0001c0039t0002g0048 a0001c0040t0002g0049 a0001c0041t0002g0050 a0001c0042t0002g0051	177	428	0.4136	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
TUBA4B_chr2_219248243_219277197	219271292	G G	T T	stop_gained stop_gained	HIGH	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0078 a0008c0013t0004g0078	1	350	0.0029	0	c.319 others(3): Show c.319G>T	p.Gly others(4): Show p.Gly107*	TUBA4B	ENSG00000243910.9	transcript	ENST00000490341.3	protein_coding	4/4	484/1389	319/726	107/241		chr2	TogoVar
TYW1B_chr7_72569513_72833200	72728896	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0011 a0012	a0001c0001 a0001c0007 a0001c0018 others(11): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0007c0012t0001g0167 a0011c0015t0001g0008 a0012c0013t0004g0001	121	286	0.4231	0	c.111 others(4): Show c.1118G>A	p.Trp others(4): Show p.Trp373*	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/14	1243/3117	1118/2007	373/668		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72744551	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0008 a0005c0022 a0005c0023 a0006c0009 a0007c0012 a0008c0011 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0006c0009t0001 a0007c0012t0001 a0008c0011t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(209): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0185 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0014t0001g0184 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281 a0007c0012t0001g0166 a0007c0012t0001g0167 a0008c0011t0001g0275 a0008c0011t0001g0276 a0011c0015t0001g0008 a0012c0013t0004g0001	212	286	0.7413	1	c.101 others(5): Show c.1014dupT	p.Glu others(5): Show p.Glu339fs	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/14	1139/3117	1014/2007	338/668		chr7	TogoVar
UBA1_chrX_47188829_47220128	47199506	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0083 a0007c0009t0001g0083	1	281	0.0036	1	c.377 others(4): Show c.377dupA	p.Asn others(5): Show p.Asn126fs	UBA1	ENSG00000130985.17	transcript	ENST00000335972.11	protein_coding	5/26	574/3572	378/3177	126/1058	INFO_REALIGN_3_PRIME	chrX	TogoVar

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