Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
PLIN4_chr19_4497192_4523486	4510779	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01192.hp2 HG01891.hp1 HG02055.hp1 others(7): Show HG01192.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp2 HG04184.hp2 NA18963.hp1 NA18993.hp2 NA19090.hp2	a0010 a0013 a0031 others(1): Show a0010 a0013 a0031 a0043	a0010c0024 a0010c0031 a0013c0046 others(4): Show a0010c0024 a0010c0031 a0013c0046 a0013c0048 a0013c0053 a0031c0104 a0043c0062	a0010c0024t0001 a0010c0024t0003 a0010c0024t0015 others(7): Show a0010c0024t0001 a0010c0024t0003 a0010c0024t0015 a0010c0031t0002 a0010c0031t0003 a0013c0046t0008 a0013c0048t0035 a0013c0053t0004 a0031c0104t0001 a0043c0062t0002	a0010c0024t0001g0201 a0010c0024t0003g0202 a0010c0024t0015g0133 others(7): Show a0010c0024t0001g0201 a0010c0024t0003g0202 a0010c0024t0015g0133 a0010c0031t0002g0164 a0010c0031t0003g0163 a0013c0046t0008g0064 a0013c0048t0035g0082 a0013c0053t0004g0086 a0031c0104t0001g0074 a0043c0062t0002g0158	10	410	0.0244	1	c.318 others(5): Show c.3180dupC	p.Ala others(6): Show p.Ala1061fs	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	3299/6502	3180/4116	1060/1371		chr19	TogoVar
PLK5_chr19_1519077_1541046	1534043	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0012	a0001c0001 a0001c0007 a0001c0016 others(4): Show a0001c0001 a0001c0007 a0001c0016 a0001c0020 a0006c0009 a0011c0018 a0012c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0007t0008 a0001c0007t0076 a0001c0016t0001 a0001c0020t0005 a0006c0009t0001 a0011c0018t0011 a0012c0013t0050	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0039 a0001c0001t0005g0056 a0001c0001t0005g0183 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0008g0008 a0001c0001t0008g0026 a0001c0001t0008g0036 a0001c0001t0008g0135 a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0182 a0001c0001t0009g0272 a0001c0001t0011g0028 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0013g0209 a0001c0001t0022g0009 a0001c0001t0022g0038 a0001c0001t0023g0022 a0001c0001t0023g0115 a0001c0001t0023g0234 a0001c0001t0024g0245 a0001c0001t0024g0246 a0001c0001t0024g0248 a0001c0001t0028g0193 a0001c0001t0028g0194 a0001c0001t0030g0125 a0001c0001t0030g0126 a0001c0001t0031g0041 a0001c0001t0031g0227 a0001c0001t0032g0168 a0001c0001t0032g0169 a0001c0001t0037g0055 a0001c0001t0039g0065 a0001c0001t0041g0215 a0001c0001t0043g0179 a0001c0001t0047g0218 a0001c0001t0049g0123 a0001c0001t0051g0057 a0001c0001t0056g0022 a0001c0001t0057g0273 a0001c0001t0058g0041 a0001c0001t0059g0137 a0001c0001t0061g0042 a0001c0001t0065g0185 a0001c0001t0066g0186 a0001c0007t0008g0026 a0001c0007t0008g0132 a0001c0007t0008g0133 a0001c0007t0076g0305 a0001c0016t0001g0002 a0001c0020t0005g0210 a0006c0009t0001g0001 a0006c0009t0001g0025 a0006c0009t0001g0096 a0011c0018t0011g0145 a0012c0013t0050g0074	210	428	0.4907	0	c.825 others(5): Show c.825+2T>C		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	13/13					chr19	TogoVar
POTEC_chr18_14502339_14548600	14513787	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02735.hp1 HG03927.hp1 others(16): Show HG00621.hp1 HG02735.hp1 HG03927.hp1 HG04184.hp1 NA18946.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18974.hp1 NA18983.hp1 NA18991.hp2 NA18993.hp2 NA19004.hp2 NA19009.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp2	a0003 a0012 a0003 a0012	a0003c0004 a0012c0014 a0003c0004 a0012c0014	a0003c0004t0004 a0003c0004t0050 a0003c0004t0051 others(1): Show a0003c0004t0004 a0003c0004t0050 a0003c0004t0051 a0012c0014t0004	a0003c0004t0004g0003 a0003c0004t0004g0014 a0003c0004t0004g0036 others(9): Show a0003c0004t0004g0003 a0003c0004t0004g0014 a0003c0004t0004g0036 a0003c0004t0004g0203 a0003c0004t0004g0204 a0003c0004t0004g0205 a0003c0004t0004g0206 a0003c0004t0004g0207 a0003c0004t0050g0003 a0003c0004t0051g0202 a0012c0014t0004g0035 a0012c0014t0004g0201	19	386	0.0492	0	c.141 others(6): Show c.1410-2A>G		POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10					chr18	TogoVar
PRAM1_chr19_8485056_8507640	8502591	T T	C C	start_lost start_lost	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp2 NA19074.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(23): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0014 a0015 a0016 a0018 a0025 a0028 a0029 a0031 a0036 a0040 a0042 a0043 a0044 a0045 a0046 a0047 a0051 a0054	a0002c0002 a0003c0003 a0004c0005 others(46): Show a0002c0002 a0003c0003 a0004c0005 a0004c0067 a0004c0076 a0004c0077 a0004c0078 a0006c0006 a0006c0070 a0006c0086 a0007c0016 a0007c0032 a0007c0033 a0007c0071 a0007c0084 a0007c0085 a0008c0015 a0008c0027 a0008c0028 a0008c0029 a0008c0075 a0010c0030 a0010c0031 a0010c0082 a0010c0083 a0011c0013 a0011c0026 a0014c0010 a0015c0024 a0015c0025 a0016c0017 a0016c0090 a0018c0034 a0018c0093 a0025c0080 a0025c0081 a0028c0035 a0029c0091 a0031c0088 a0036c0079 a0040c0069 a0042c0074 a0043c0072 a0044c0089 a0045c0068 a0046c0092 a0047c0073 a0051c0094 a0054c0087	a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 others(47): Show a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 a0004c0067t0002 a0004c0076t0002 a0004c0077t0002 a0004c0078t0002 a0006c0006t0002 a0006c0070t0002 a0006c0086t0001 a0007c0016t0002 a0007c0016t0004 a0007c0032t0002 a0007c0033t0002 a0007c0071t0002 a0007c0084t0002 a0007c0085t0002 a0008c0015t0002 a0008c0027t0002 a0008c0028t0002 a0008c0029t0002 a0008c0075t0002 a0010c0030t0002 a0010c0031t0002 a0010c0082t0002 a0010c0083t0002 a0011c0013t0002 a0011c0026t0002 a0014c0010t0002 a0015c0024t0002 a0015c0025t0002 a0016c0017t0002 a0016c0090t0002 a0018c0034t0002 a0018c0093t0002 a0025c0080t0002 a0025c0081t0002 a0028c0035t0002 a0029c0091t0002 a0031c0088t0002 a0036c0079t0002 a0040c0069t0002 a0042c0074t0002 a0043c0072t0002 a0044c0089t0002 a0045c0068t0002 a0046c0092t0001 a0047c0073t0002 a0051c0094t0002 a0054c0087t0001	a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0218 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0245 a0002c0002t0002g0252 a0003c0003t0002g0011 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0233 a0004c0005t0002g0048 a0004c0005t0002g0052 a0004c0005t0002g0176 a0004c0005t0002g0180 a0004c0005t0002g0181 a0004c0005t0002g0194 a0004c0005t0002g0241 a0004c0067t0002g0193 a0004c0076t0002g0177 a0004c0077t0002g0184 a0004c0078t0002g0182 a0006c0006t0002g0024 a0006c0006t0002g0197 a0006c0006t0002g0198 a0006c0006t0002g0220 a0006c0006t0002g0221 a0006c0006t0002g0222 a0006c0070t0002g0192 a0006c0086t0001g0173 a0007c0016t0002g0240 a0007c0016t0004g0051 a0007c0032t0002g0187 a0007c0032t0002g0188 a0007c0033t0002g0196 a0007c0033t0002g0219 a0007c0071t0002g0183 a0007c0084t0002g0186 a0007c0085t0002g0189 a0008c0015t0002g0050 a0008c0015t0002g0248 a0008c0027t0002g0058 a0008c0028t0002g0047 a0008c0029t0002g0046 a0008c0075t0002g0179 a0010c0030t0002g0049 a0010c0031t0002g0242 a0010c0031t0002g0243 a0010c0082t0002g0185 a0010c0083t0002g0239 a0011c0013t0002g0023 a0011c0013t0002g0190 a0011c0026t0002g0055 a0014c0010t0002g0056 a0014c0010t0002g0235 a0014c0010t0002g0236 a0014c0010t0002g0237 a0015c0024t0002g0249 a0015c0024t0002g0250 a0015c0025t0002g0059 a0016c0017t0002g0216 a0016c0017t0002g0217 a0016c0017t0002g0232 a0016c0090t0002g0246 a0018c0034t0002g0204 a0018c0034t0002g0205 a0018c0093t0002g0215 a0025c0080t0002g0247 a0025c0081t0002g0238 a0028c0035t0002g0057 a0029c0091t0002g0226 a0031c0088t0002g0223 a0036c0079t0002g0195 a0040c0069t0002g0244 a0042c0074t0002g0178 a0043c0072t0002g0224 a0044c0089t0002g0251 a0045c0068t0002g0191 a0046c0092t0001g0175 a0047c0073t0002g0234 a0051c0094t0002g0253 a0054c0087t0001g0174	128	420	0.3048	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	1/10	50/2195	1/2013	1/670		chr19	TogoVar
PRAMEF33_chr1_13298539_13313907	13307108	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0023 others(2): Show a0001 a0003 a0023 a0029 a0035	a0001c0001 a0001c0003 a0001c0005 others(31): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0027 a0001c0028 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0079 a0003c0004 a0003c0030 a0003c0080 a0003c0081 a0003c0082 a0003c0083 a0023c0084 a0029c0032 a0035c0033	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0001 a0001c0017t0002 a0001c0027t0002 a0001c0028t0001 a0001c0062t0001 a0001c0063t0002 a0001c0064t0001 a0001c0065t0002 a0001c0066t0002 a0001c0067t0010 a0001c0068t0002 a0001c0069t0001 a0001c0070t0001 a0001c0071t0002 a0001c0072t0001 a0001c0073t0001 a0001c0074t0002 a0001c0075t0002 a0001c0076t0001 a0001c0079t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0009 a0003c0030t0001 a0003c0080t0001 a0003c0081t0002 a0003c0082t0002 a0003c0083t0001 a0023c0084t0002 a0029c0032t0001 a0035c0033t0008	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0028 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0003t0002g0057 a0001c0005t0001g0007 a0001c0005t0001g0020 a0001c0005t0002g0004 a0001c0013t0002g0004 a0001c0013t0002g0021 a0001c0014t0001g0010 a0001c0015t0002g0005 a0001c0015t0002g0043 a0001c0017t0001g0010 a0001c0017t0001g0029 a0001c0017t0002g0004 a0001c0027t0002g0005 a0001c0027t0002g0011 a0001c0028t0001g0025 a0001c0062t0001g0007 a0001c0063t0002g0018 a0001c0064t0001g0007 a0001c0065t0002g0004 a0001c0066t0002g0073 a0001c0067t0010g0007 a0001c0068t0002g0005 a0001c0069t0001g0039 a0001c0070t0001g0025 a0001c0071t0002g0070 a0001c0072t0001g0076 a0001c0073t0001g0007 a0001c0074t0002g0005 a0001c0075t0002g0011 a0001c0076t0001g0067 a0001c0079t0002g0058 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0004t0001g0075 a0003c0004t0001g0080 a0003c0004t0001g0086 a0003c0004t0002g0004 a0003c0004t0002g0029 a0003c0004t0002g0032 a0003c0004t0009g0008 a0003c0030t0001g0008 a0003c0030t0001g0081 a0003c0080t0001g0004 a0003c0081t0002g0068 a0003c0082t0002g0074 a0003c0083t0001g0008 a0023c0084t0002g0004 a0029c0032t0001g0055 a0035c0033t0008g0071	245	416	0.5889	0	c.758 others(3): Show c.758G>A	p.Trp others(4): Show p.Trp253*	PRAMEF33	ENSG00000237700.2	transcript	ENST00000437300.2	protein_coding	3/4	831/1518	758/1425	253/474		chr1	TogoVar
PRAMEF4_chr1_12874212_12891201	12879725	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01070.hp1 HG01070.hp2 others(14): Show HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG02683.hp1 HG02738.hp2 HG02895.hp1 HG03017.hp1 NA18993.hp1 NA19004.hp1 NA19007.hp1 NA19055.hp2 NA19078.hp1 NA19089.hp1 NA20752.hp2 NA20905.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0011 a0004c0004 a0010c0011	a0004c0004t0001 a0010c0011t0001 a0004c0004t0001 a0010c0011t0001	a0004c0004t0001g0011 a0004c0004t0001g0018 a0004c0004t0001g0030 others(6): Show a0004c0004t0001g0011 a0004c0004t0001g0018 a0004c0004t0001g0030 a0004c0004t0001g0062 a0004c0004t0001g0063 a0004c0004t0001g0070 a0004c0004t0001g0073 a0004c0004t0001g0101 a0010c0011t0001g0017	17	319	0.0533	1	c.125 others(5): Show c.1255dupC	p.Arg others(5): Show p.Arg419fs	PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	4/4	1326/1840	1255/1437	419/478		chr1	TogoVar
PRB3_chr12_11260914_11274707	11267400	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19075.hp2 NA19076.hp1 NA19080.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0003 a0005 a0006 others(5): Show a0003 a0005 a0006 a0013 a0016 a0022 a0026 a0027	a0003c0003 a0003c0028 a0005c0005 others(7): Show a0003c0003 a0003c0028 a0005c0005 a0006c0006 a0006c0035 a0013c0012 a0016c0017 a0022c0034 a0026c0030 a0027c0027	a0003c0003t0002 a0003c0028t0002 a0005c0005t0002 others(7): Show a0003c0003t0002 a0003c0028t0002 a0005c0005t0002 a0006c0006t0002 a0006c0035t0002 a0013c0012t0002 a0016c0017t0002 a0022c0034t0002 a0026c0030t0002 a0027c0027t0002	a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0029 a0003c0003t0002g0060 a0003c0028t0002g0062 a0005c0005t0002g0008 a0005c0005t0002g0057 a0006c0006t0002g0009 a0006c0035t0002g0059 a0013c0012t0002g0018 a0016c0017t0002g0027 a0022c0034t0002g0058 a0026c0030t0002g0063 a0027c0027t0002g0061	80	442	0.1810	1	c.848 others(4): Show c.848dupC	p.His others(5): Show p.His284fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	886/1227	848/1056	283/351		chr12	TogoVar
PRSS48_chr4_151272161_151296862	151279866	G G	GCAGGT GCAGGT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 others(20): Show a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131	89	426	0.2089	5	c.127 others(12): Show c.127_131dupGTCAG	p.Ser others(4): Show p.Ser44fs	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	2/5	144/1408	132/987	44/328	INFO_REALIGN_3_PRIME	chr4	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0004c0004t0004 a0005c0006t0002 a0006c0007t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0005t0001g0124 a0001c0005t0001g0125 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0005g0001 a0002c0002t0005g0062 a0002c0002t0006g0001 a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131 a0004c0004t0004g0009 a0004c0004t0004g0022 a0004c0004t0004g0039 a0004c0004t0004g0081 a0004c0004t0004g0082 a0005c0006t0002g0059 a0006c0007t0004g0132	324	426	0.7606	0	c.985 others(3): Show c.985T>G	p.Ter others(11): Show p.Ter329Gluext*?	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	5/5	997/1408	985/987	329/328		chr4	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0018 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0018t0001 a0008c0017t0002 a0010c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0097 a0001c0001t0006g0205 a0001c0001t0007g0115 a0001c0001t0008g0164 a0001c0001t0009g0165 a0001c0001t0011g0213 a0001c0001t0012g0214 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0010g0074 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0118 a0001c0005t0002g0042 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0006t0001g0026 a0001c0006t0001g0204 a0001c0007t0002g0016 a0001c0009t0002g0030 a0001c0009t0002g0063 a0001c0010t0002g0020 a0001c0011t0002g0091 a0001c0011t0002g0139 a0001c0012t0001g0036 a0001c0013t0001g0168 a0001c0013t0001g0177 a0001c0014t0002g0064 a0001c0014t0002g0065 a0001c0020t0002g0078 a0001c0021t0002g0120 a0001c0022t0001g0175 a0001c0023t0001g0116 a0001c0024t0001g0184 a0005c0018t0001g0153 a0008c0017t0002g0081 a0010c0027t0002g0138	375	414	0.9058	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419		chr19	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 a0005c0005t0001g0028 a0005c0005t0001g0095 others(30): Show a0005c0005t0001g0001 a0005c0005t0001g0028 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0001g0097 a0005c0005t0001g0098 a0005c0005t0001g0099 a0005c0005t0001g0100 a0005c0005t0001g0101 a0005c0005t0001g0102 a0005c0005t0001g0103 a0005c0005t0001g0395 a0005c0005t0001g0396 a0005c0005t0001g0397 a0005c0005t0001g0398 a0005c0005t0001g0399 a0005c0005t0001g0400 a0005c0005t0001g0401 a0005c0005t0001g0402 a0005c0005t0001g0403 a0005c0005t0001g0404 a0005c0005t0001g0405 a0005c0005t0001g0406 a0005c0005t0001g0407 a0005c0005t0001g0408 a0005c0005t0001g0409 a0005c0005t0001g0410 a0005c0005t0001g0411 a0005c0005t0001g0412 a0005c0005t0001g0413 a0005c0005t0001g0414 a0005c0005t0001g0415 a0005c0005t0001g0416	35	424	0.0825	0	c.320 others(6): Show c.3204+2T>C		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	23/35					chr13	TogoVar
RP1_chr8_54611096_54635834	54627923	C C	CAAAGAAA others(345): Show CAAAGAAAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0010 a0020c0018t0001g0010	1	428	0.0023	352	c.405 others(361): Show c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAACAC	p.Tyr others(6): Show p.Tyr1352fs	RP1	ENSG00000104237.11	transcript	ENST00000220676.2	protein_coding	4/4	4172/7071	4053/6471	1351/2156	INFO_REALIGN_3_PRIME	chr8	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 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0011 others(5): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 others(9): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 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 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0294 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0011c0024t0002g0284	117	310	0.3774	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
SCART1_chr10_133448945_133474760	133457333	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0007 a0003c0008 others(16): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0003c0041 a0004c0005 a0004c0010 a0004c0015 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(20): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0003c0041t0006 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0015t0001 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0003c0041t0006g0136 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0015t0001g0001 a0004c0015t0001g0034 a0004c0015t0001g0073 a0004c0015t0001g0098 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029	93	432	0.2153	-1	c.444 others(4): Show c.444delC	p.Glu others(5): Show p.Glu149fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	3/12	497/4929	444/3084	148/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0007 others(7): Show a0003 a0004 a0007 a0009 a0017 a0018 a0023 a0026 a0027 a0029	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0007c0016 a0007c0034 a0009c0025 a0009c0047 a0017c0060 a0018c0031 a0023c0050 a0026c0045 a0027c0033 a0029c0032	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0007c0016t0004 a0007c0034t0003 a0009c0025t0003 a0009c0047t0004 a0017c0060t0003 a0018c0031t0003 a0023c0050t0004 a0026c0045t0004 a0027c0033t0004 a0029c0032t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029 a0007c0016t0004g0018 a0007c0016t0004g0050 a0007c0034t0003g0097 a0009c0025t0003g0031 a0009c0025t0003g0123 a0009c0047t0004g0055 a0017c0060t0003g0157 a0018c0031t0003g0122 a0023c0050t0004g0018 a0026c0045t0004g0138 a0027c0033t0004g0053 a0029c0032t0004g0018	102	431	0.2367	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SCRN3_chr2_174390730_174434575	174427852	TTCAAATT others(6): Show TTCAAATTTATCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(84): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0004 a0009c0008 a0002c0002 a0002c0004 a0009c0008	a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 others(2): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0004t0002 a0009c0008t0002	a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 others(47): Show a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0004g0006 a0002c0002t0004g0024 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0069 a0002c0002t0004g0070 a0002c0002t0004g0086 a0002c0002t0012g0011 a0002c0004t0002g0012 a0002c0004t0002g0025 a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0002g0075 a0002c0004t0002g0076 a0002c0004t0002g0077 a0002c0004t0002g0078 a0002c0004t0002g0079 a0002c0004t0002g0081 a0009c0008t0002g0146	87	362	0.2403	-13	c.125 others(22): Show c.1251_1263delTTTATCAGTCAAA	p.Asn others(5): Show p.Asn417fs	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	8/8	1348/3052	1251/1275	417/424	INFO_REALIGN_3_PRIME	chr2	TogoVar
SIGLEC5_chr19_51605960_51635401	51629822	CCCTGCCA others(5572): Show CCCTGCCATACCTGTCACCTCCAAGTTCAGCTTATTCTGTTGGTAGCTAT ATTTTACATCCCTTCCTCTCTCCACGCGGAAGAAATAGCTTCCCGTGTCC TCCATTCTGGCATCTCCGATGCTCAGGGAGCAGTTCTTCTTCTGGACATC CCCAAGGAGGCGGAATCGGCCCTGGGTCTCTGGCTTCACTCTTCTGTCTG GGTTGTTTGTGGCCACAACCTCAGCGTAGTATGGGATCTCCCCGTCCCGG AACCAGTAGACGTAGAGTGGGGGAGAGGAATACCAGGATCTCCAGGGGTA AGAGAAGGAGCAGGGCACAAGGACGCACAGGCCCTCCTGCACCGTCACCG ACTTCTGCACTTGCAGCTCGTACACTGGCTTCTCCTGCAGGGACCCTGGG GGGACACAGAAGCTCAGCTGCAGCTCCAGCCCCCCTTCTCACCCCTGTGC CTGTCCCTCCTCCCTCAGCTCACTCACCCCCCCACAGCAGGGGCAGCAGC AGCAGGGGCAGCATGTCTCCATCCGCCAGGGCCCCAGCCCAGTCCCAGGT CCGGCTGTCAGGGAAGGAAATGCTCCAAATGTCCAAACGTGGGGTGGGGC TGAGAAAGCCCCGACAGGAAGCCGGAGGGTGAGTGAGAGCTGTGGACGCG CACAGAAGGGGAACTTGGGCATCACGTGCTGTTGGGGTGAGGCGGGGGCT GGGAAGCCATTCTGCTCCCACCCCGACTGGACGCCGCAGGTGAAGATACT GAGGCCCCCAGACGATGTGAGGCTTGTCCAGCTGAGGATCTGGAGGTGAT CACCCCTCAAATGATGTTTCAGTCATGAGTGAGATCCTCAGGGGGCTGAA TGCAGAAAGAAAAGAGAAACAAGGGCTTGTCCTGGTGATGAGGTGAGATG TCAGAACCACCCTCCACCTAAAAACCATGAAACATTCTGGAAATACATAA TTTTAAATTTGATTTTAAATGTTCAAAGTGACCAGGCATGGTAGCTCATG CCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGAGGGTTGTTTGAGCC CAGGAGTCTGAGACCAGCCTGGGCAACATAGCAAGTCACCATCTCTACAA AAAATAAAAACTATTAGCTGGTGTGGTGGCACACCTATAGTCTCAGCTCC TCCGGGGCACTGAAATAGGAGAATTCCTTGAGCCCAGGAGTTTGAGGTTG CTGTGAGCCGTGATCGCACTACGGCATTCCAGCCTGGGCAACAGAGTGAA ACCCTGCCTTAAAAAAAAAAAAAAAAAAGTTCAAAAGGGCTGAAAAAAAA TTTTTTTGACCCAAATTTCGTGGAGGGTCAGAGCATGAGAGAGCTGAAGC ACTCTTATGTTAAGAAGATTCTTGGGACACAGCACAGTCCACTTTGGGTC TTGATGGACCTGAGGGTCTTGTGGGACGGCAGTGAAACACAAGCCCTGCT AAAGCCTCATCCTATTAAGGAGCTACAGAAGCAAATTTGCCACTGTGAGG CTGATGAAGCTCAATCTTCAATGCCCTCCCTTGCAGGATCCACTTTTCAG ATGCCCAGGAGGGGCCCACGCAATGTGTGGAAATAACCTGCCTTGTTACT GCTCTTTTATGAAAGAAATTTCATAATAGTTTCCCAAAATTTAACAATAT ATTAAAAATTTTTCACATTCCGATTAATGTGTTGTGAGAATAAAGACAGT TTCTTAAACTATCAATGATCAAAACAAACGTCAACCACCCATGCCAGAAG AAATACCGACTTCTCTTTCTATTCTATCTATAAAAATTGTATTATAAAAT TATTCTCCAATATTGGCCGGGTACAGTGGCTCACATCTGTAATCCCAAGC ACTTTGGGAGGAGGAGGCGGGTGGACCACCTGAGATCAGGAGTTCGAGAC CAGCCTGGCCAACATGGAGAAACCTCCTCTCTACTAAAAGTACAAAAATT TAGCCAGGCATAGTGGCGCACACCTATAGTCCCAGCTACTCCAGAGGCTG AGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAG ATCACGGTACTGCACTCCAGCCTGGGTGACCAAGTGAGACTCTGTCTCAA AAAGAAAAAAATTATCACCATTATGAAGGCAATCAAAGAAAATCAGTCAA AAATATAGGGAAAAAGTATGCAGGTGTAGCAGACAGGTAGACTATACTAT TAACAAACATAGTATGCCATTTTTCTGAGTTGTCTCATATTTTGACATTT TAGATTTTGTGATTTGATGTGTTTTCTCAGTCCAAAAATCATCCTATGTG TGCCAAATTTTGTATTTTTGTATTTTTTTTTCTAAAGAGTCACAAAGACT CTCTTCTTAACCAAACTTATGAAAGCTCCTCTGAACCCTTTTTTCAACTA GGCTTTGTCCTTGGGACTGCCTTGTCCAGCTGTAGCAAGAATCCTGCTAA GTTGGTTTTGCAAGACTCTTGATATCTGATCGCCTTCACTATCTGATCAA ATTCCCTAGCCCTCACCCTTGGTATCTGATCATGCTGGCCTGCTTTCAGC AAGAATCCTGTTAAGTCAGTTTAGAAAGAATCCCGGTATCTTCAGTGTCT CCTCTTAGTAGTTTTCCGTCCACTAACACACACGGCCAGCCTCCCTCACC TGCTGCACTATGCTTCTTGCCCATAAACCCCCCTGGTCTTTGCTGTATTC CGAGTTGAGCCTGACCTATCTCCATTATTGCACTAGTCTTTTTTTTTTTT TAATTGACTTCTGTTTTTTTCTTCTGAGACGGGGTCTCACTGTGTTGTCC CAGCTGGAGTACAGTGGTGCAACCTTAGCTCACTGCAACCTCCCCCTCCC AGGTACAAGCGATTCTCCTATCTCAGCTTCCTGAGTAGCTGGGAGTACAG GTGCATGCCACCATGCCCAGCTTATTTTTGTATTTTTAGTAAAGATGGGG GTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGTCATT TCCCTGCCTTGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTG CCTGGCCTGCACTAGTCTTGATACCTGTCTCAGTCATCCTGAATAGTCAA TGTTAACAGGTGTCAGAATAATTTTTTCTTTTTTCTTTTTCTTATTGCAA ATTCTGAACTTTATTCCTCATTTGAACTGTGAAAGTAATTCATCATACCG GCTAGTAGGATCTAAAGATAAAGACTTGATTATGTAGGAAAATGGTATTT TTATCTTTATATTAAAATCTTAATATTAAATTCCCTCTCCTAAAATACAT AGTATGGCTTCTGTTTTCACATCAGCCTTAACTAATTAAATCTCAAGAGA TGAATAAGTGAGCATTGGGTGATTTCAAATCCCTTTATGATATAATTCAT AGCCAACTAGAAATTCTCTTTAGAGAATTTCCCAAACAAGATAAAGGGTG TCTTCAGCAAACATCATATACCTAATGAAGTAGCTTCAGGTCCTAGCATA ATAAGGCAATAAAAATAAGCAAAAGGTACAGCAATTACAATGAAATTTTA ACAGAGGTCTTTATCAATGACATGACTGCACATATAGAAAAATCCAGGCT AAGCGTGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCA GGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAA ACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAAC CTGGGAGGTGGAGCTTGCAGTGAGTGGAGATCACACCACTGCACTCCAGC CTGGGCGACAGAGCGACACTCCATCTCAAAAAAAAAAAAAGAAAAATCCA AAAGTATATACGGATACATTTGAAGCCTTAATAAAATATTTGCAAGACAG CCAGAGATTAATCAAATTACAAAATCAGTTGTCTTTCCACATCACAGTAA TAAAAATGGAATTTTATAAAAATGCCATTGACAAAAGCTTCAAAAATTAT GATATAATTTATCAATATCAAAAAATATGATATAATTTTTGAATATATGG AATATATCTAACTATTAGAGATGTATCTAACAAAAATATGTATATGTCAC CTCTATGGAGGAAATTATAAATCTGTATTCAAGGACATTAAAGATGTAAA TAGGCTGGGCGCAGTGGCTCACGCCTGTAATGCCAACACTTTGGGAGGCC GAGGCGTGTGGATCACCTGAGGTCAGGAGTTCGAGACCACCCTGGCCAAC CTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGT GGCAGGCACCTGTAGTCCCAGCTACTCAGTAGGCCAAGGCAGGAGAATCA CTTGAACCTGAGAGATGGAGGTTGCAGTGAGTCGAGATTGCACTATTGCA CTCCAGCCTGGGCGACAGACCAAGACTCCGTCTCAAGAAAATAAATAAAT AAAAAATAAATAAATCAAGATGTAAATAAACTGAAAAAGAGGCCATGTTG ATGAGTTTGAGAACAATATTGTATGAATGCCAATTTTACCCAACAATCTA CAGCATCAAAGGAATATGTCATACAATCTCCCGGGTGATTTTTGTGCAAT TTGGTAACTCTATTGTAAAATTTATACTGAAGTAGAAATGTTCAAGTATG GTCAAGGCAACCATGAAGAACAATGAATGGCTTTGCAAGATAAAAAGATG TATCATAACATTACAGAAAATATGACCATTTCAGACGGGGCACAGTGGCT CACATCTGTAATCCCCGCACTTTAGGAGGCCGAGGCAGATGGATCACTTA AGGTCAGGAGTTTGAAAGCAGCCTGACCAACATGGTGAAACCCTGTCTCT ACTAAAAAATAACAAAAATTAGCTGGGCATCGTGGCATGTGCCTGTAATC TCAGCTGCTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGAGGTG GAGGTTGCAGTGAGCTAAGATTGTGCCACTGCATTCCACCCAGGGTGACA GAGTGAGACTGTCTCAAATTTTTAAAAATGTGAGAAAATAGGCCCATTTC AATGGTTCACACCTGTAATACCAGCGCTATGGGAGACCGAGGCAGAAGGA TTACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGACACCC CATCTGTACAAAAAACACAAAAATTAGCTGGGCATGGGTGGCTCATGCCT GTAGTCTCAGCTACTTGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAG GAGGTGGAGGTTGCAGTGAGCCAAGATTGCAGCACTGCACTCCATCCAAG GTGACAAAGTGACACAGTGAGACCTTGTCTGAAAAAAAAAAGTGACAATT ATGTATTGACCAAGTGGAACAAAATTGAGTGCCTGGAAATAGACCTCAAC CACAGGAAACATCAAGTGTGATAGAGGAAGTGGCAAATAATAAATTTTTC TTTTTATTTATTTTGGGTTTTTATTTATTTAATTTTTTTTGAGACAGTGT CTCTGTCACCTAGGATGGAGTACAATGGTG	C C	exon_loss_variant exon_loss_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(29): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG01243.hp1 HG01516.hp2 HG02074.hp1 HG02145.hp1 HG02683.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03453.hp2 HG03704.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18993.hp1 NA19043.hp1 NA19055.hp1 NA19072.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0017 a0002c0001 a0002c0006 a0003c0003	a0001c0002t0001 a0001c0004t0001 a0001c0008t0005 others(8): Show a0001c0002t0001 a0001c0004t0001 a0001c0008t0005 a0001c0017t0001 a0001c0017t0013 a0002c0001t0001 a0002c0001t0003 a0002c0006t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0001c0002t0001g0045 a0001c0002t0001g0227 a0001c0002t0001g0269 others(27): Show a0001c0002t0001g0045 a0001c0002t0001g0227 a0001c0002t0001g0269 a0001c0004t0001g0024 a0001c0004t0001g0026 a0001c0004t0001g0064 a0001c0004t0001g0077 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0008t0005g0230 a0001c0017t0001g0093 a0001c0017t0013g0092 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0003g0009 a0002c0001t0003g0080 a0002c0001t0003g0094 a0002c0006t0002g0019 a0003c0003t0001g0198 a0003c0003t0001g0245 a0003c0003t0001g0247 a0003c0003t0001g0312 a0003c0003t0002g0243 a0003c0003t0003g0125	32	407	0.0786	-5579	c.-50 others(12): Show c.-5066_421+10del		SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	2/9					chr19	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): 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	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0004c0008 a0006c0006 a0007c0007 a0008c0012 a0010c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0004c0008t0001 a0006c0006t0001 a0007c0007t0001 a0008c0012t0001 a0010c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0004c0008t0001g0001 a0006c0006t0001g0001 a0007c0007t0001g0001 a0008c0012t0001g0001 a0010c0014t0001g0001	316	410	0.7707	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
SLC38A6_chr14_60976245_61057630	61043504	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	318	0.0031	0	c.744 others(5): Show c.744+1G>A		SLC38A6	ENSG00000139974.17	transcript	ENST00000267488.9	protein_coding	10/15					chr14	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 a0001c0040 a0006c0008 a0006c0021 a0006c0044 a0006c0045 a0006c0046 a0006c0047 a0007c0007 a0008c0015 a0008c0022 a0008c0049 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0040t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0044t0003 a0006c0045t0004 a0006c0046t0004 a0006c0047t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0049t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0317 a0001c0002t0001g0354 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0099 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0280 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0325 a0001c0002t0002g0333 a0001c0002t0002g0342 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0005t0001g0140 a0001c0005t0002g0005 a0001c0005t0002g0031 a0001c0005t0002g0048 a0001c0005t0002g0097 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0287 a0001c0005t0002g0324 a0001c0005t0002g0326 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0009t0001g0129 a0001c0009t0002g0011 a0001c0009t0002g0053 a0001c0009t0002g0131 a0001c0009t0002g0133 a0001c0009t0002g0137 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0016t0001g0002 a0001c0016t0001g0073 a0001c0016t0001g0323 a0001c0016t0001g0336 a0001c0029t0002g0253 a0001c0040t0004g0270 a0006c0008t0003g0038 a0006c0008t0003g0165 a0006c0008t0003g0192 a0006c0008t0003g0193 a0006c0008t0003g0204 a0006c0008t0003g0220 a0006c0008t0004g0176 a0006c0008t0004g0178 a0006c0008t0004g0202 a0006c0008t0004g0207 a0006c0021t0004g0034 a0006c0021t0004g0170 a0006c0044t0003g0012 a0006c0045t0004g0172 a0006c0046t0004g0212 a0006c0047t0004g0201 a0007c0007t0002g0003 a0007c0007t0002g0019 a0007c0007t0002g0026 a0007c0007t0002g0050 a0007c0007t0002g0055 a0007c0007t0002g0074 a0007c0007t0002g0080 a0007c0007t0002g0318 a0008c0015t0004g0222 a0008c0015t0004g0228 a0008c0015t0004g0229 a0008c0015t0004g0230 a0008c0015t0004g0232 a0008c0022t0003g0231 a0008c0022t0003g0234 a0008c0022t0004g0236 a0008c0049t0004g0239 a0010c0012t0003g0039 a0010c0012t0003g0214 a0010c0012t0003g0215 a0010c0012t0003g0216 a0010c0012t0004g0213 a0010c0012t0004g0217 a0013c0018t0004g0013 a0013c0018t0004g0203 a0015c0024t0002g0018	181	453	0.3996	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
SLC7A13_chr8_86209063_86235381	86214405	TCCGACAT others(1): Show TCCGACATC	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show HG00438.hp1 HG00544.hp1 HG01070.hp1 HG01074.hp1 HG01255.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0002c0015 a0014c0024 a0002c0002 a0002c0015 a0014c0024	a0002c0002t0002 a0002c0015t0002 a0014c0024t0002 a0002c0002t0002 a0002c0015t0002 a0014c0024t0002	a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0012 others(18): Show a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0117 a0002c0015t0002g0054 a0014c0024t0002g0134	95	426	0.2230	-8	c.141 others(15): Show c.1413_*7delGATGTCGG	p.Ter others(5): Show p.Ter471fs	SLC7A13	ENSG00000164893.9	transcript	ENST00000297524.8	protein_coding	4/4	1524/1867	1413/1413	471/470		chr8	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 a0011 a0015 a0016	a0002c0002 a0002c0022 a0005c0007 others(6): Show a0002c0002 a0002c0022 a0005c0007 a0005c0011 a0005c0019 a0007c0008 a0011c0015 a0015c0020 a0016c0021	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0022t0003 a0005c0007t0001 a0005c0011t0001 a0005c0011t0004 a0005c0019t0001 a0007c0008t0004 a0007c0008t0006 a0011c0015t0007 a0015c0020t0003 a0016c0021t0001	a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0109 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0003g0021 a0002c0002t0003g0040 a0002c0002t0003g0054 a0002c0002t0005g0046 a0002c0002t0005g0048 a0002c0022t0003g0096 a0005c0007t0001g0011 a0005c0007t0001g0059 a0005c0007t0001g0066 a0005c0011t0001g0064 a0005c0011t0004g0051 a0005c0019t0001g0056 a0007c0008t0004g0024 a0007c0008t0006g0032 a0011c0015t0007g0087 a0015c0020t0003g0099 a0016c0021t0001g0090	60	428	0.1402	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
SNRNP70_chr19_49080451_49113604	49107881	AGCGAGAA others(4): Show AGCGAGAACGGC	A A	frameshift_variant frameshift_variant	HIGH	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0099 a0003c0004t0002g0099	1	364	0.0027	-11	c.754 others(18): Show c.754_764delCGAGAACGGCG	p.Arg others(5): Show p.Arg252fs	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	10/10	950/1671	754/1314	252/437	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPATA31C2_chr9_88124305_88143475	88135258	ATTGGAGT others(3483): Show ATTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTG TAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAA TCTCGTTCGTCCTCAACTCCGGCTTTCCCACACAATGTTTTTGTCTTCTG TGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCA AATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTT TTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCTCAGG CTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGG TTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCG CCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGAT CTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTG CGCCCATCCTTCTATCTCACTTTGAATCAAAGGGACCTACCCACATACAA TTAAGATTTTTTTAAAATTCTATTTATGTACTTATGTAATTTTATTTTAA GTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATG GAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTC ACTGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTG TATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTT CTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCT GGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTA TTTTCTCATTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTG CCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGA CTTTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATAT GGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTT ATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCA ATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAA TTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATT TTTACATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTC CATCTTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCT ACCATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATT CTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACA CTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGG AAACCTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTA ATCTCTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTAT TTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAA CAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTT TTAACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGG GGACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATA CAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGT ACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAAT CTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACC TGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCC AGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAA GGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAA CAAAATAAATAAAAATAACACACAAACACACACGCACACACACAGGGATT TTCAATATGAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCC AGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCA TTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCC TCGGGGGCCCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGT CCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCT GGCCTCGGACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTC ATGACCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCA CGGGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTG AGAGCTTGGGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTG GCTGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACT TCCCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAA AAAGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTAC CTTTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAG AGAAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTG AGGAAGATATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGA GGCACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCG CATTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGAC TGGGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCT CCTTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTC CCCACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCT CCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCT TTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTATCTG	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00099.hp2 HG01070.hp1 HG01123.hp2 others(8): Show HG00099.hp2 HG01070.hp1 HG01123.hp2 HG01358.hp2 HG03139.hp2 HG03927.hp2 NA18940.hp1 NA18993.hp1 NA19000.hp2 NA19068.hp1 NA20805.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0007 a0002c0001t0001g0033 others(2): Show a0002c0001t0001g0001 a0002c0001t0001g0007 a0002c0001t0001g0033 a0002c0001t0001g0055 a0002c0001t0001g0127	11	403	0.0273	-3490	c.-30 others(13): Show c.-302_190-1590del		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4					chr9	TogoVar
SPATA45_chr1_212825141_212852649	212829026	ACACAAAG others(11290): Show ACACAAAGGAACATAAGCCAAGTTAAGATCTGAAGAGGCTCATGCCTGTA ATCCCAGCACTTTGTGGGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAG TTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAACCTGGCATAGTGGCACACACCTGTAGTCCCAGCTACTCAG GAGGCTGAGATGAGAATTGCTTGAACCTGGAAAGCAGATGTTGCAGTGAG CCAAATCACACTGCTGCACCCCAGCCTGGGCAACAGACCAAGACTCCGTC TAAAAAAAAAAAAGTGATTTGAAGAGACTGTGATCCAAGAAGCAATGAAA CGGAGGTGATAGTAGCCAAATAGGATGTGGCCATGAGATAATTCTAACCA TCACCACTGTGGGGATGGACAACGTAATGTAACAGAAAGCCCTGTCTACA GGCACCTTATATTAGCCTCTCAAATATCTCCTTATTCAAATAATCAAAAC CATAACTTTAACAGAGGAAGTTAATCTATCATTTATAAGCAAGTGTTAAC TTTTTAGCCTTCAACCTGATCAGTGGGGTTGGTCAATATATTCCATTGAG TTATAGAAACAAATATAAACTATTATTTAAACATTTTAGATTACTAAGGA GAAGATTGCCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTCTGGG ATGCCAAGGCGAGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGA CCAACATGGTGAAATGTCATCTCTACTAAAAATACAAAAATTAGCTGGGT GTGGTGGCGTGCGCCTGTAGTCCCAGCTTCTCAGGAGGCTGAGACAGGAG AATAGCTTAAACCCAGGAGGTGGAGATTGCAGTGAGCTGAGATCATGCCA CTGCATTCCAGCCCGGGGAACAGAGCAAGATTCTGTCTCAAAAAAAAAAA AAAAAAAAAGGGATCACTGTAAACTAAACTCTTAGGTATTCATGTTTGAA AGTAACTAAAAAACTCAAATCCTCTCTTCAAATCATCTAAGTTTAAATGA TAGAATGGAATGAATAAAGATATGTTTTATGTGACTTAATGTTTTTTGAG GGATCTAGTGAATACTTTTGTTTAGCTTTGTTTATAATTAATAATTTGTA AATAATTTAGACACACTGAAGAAGAATCAAAGAGAATGTATTTCCGTGTG TCTCTGGAGATGCACTTTATCCAAATATGGCATTATCTGAAAAAATAAAA AATAAAAAGTATTTGTTATATAACTTATAACACATTTCATGGTTTTTAAA ATAACCCTGGAGGGCAGAGTATTGTTTTTCAGATACAGGAACTAAGGTTT AGAAACACCAAATGGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCA CTTTGGGAAGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTA GCCGGGCGTCGTGGCGCGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAG ACAAGAGAATCGGTTGAACCCAGGAGGCGGAACGTGCAGTGAGCCGAGAT CACACCACTGCACTCCAGCCTGGGCGAAAGAGCAAGACTCCGACTCCAAA AAAAAAAAAAGAAACACCAAATGGCGGCCAGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGAGAGACTGAGGTGGGCGGATCACGAGGTCAAGAG ATGGAGACCATCCTGGCCAACATGTTGAAACCCCCATCTCTACTAAAAAG ACAAAAATTAGCTGGGTGTGGTGGGATGCGCCTGTAGTCCTAGCTACTCA GGAGGCTGAGGCAGGAGAAATCAGTTGAACCCGGGAGGTGGAGGTTGCAG TGAGCCGAGATCGCAACACTGCATTCCAGCCTGGTGACAGAGCAAGAAAA AATCTCAAAAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTAATCCCAG CTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGCAGCAGAG GTTGCAGTGAGCCAAGATCGAGCCACTGCACTACAGCCTGTGACAAAGTG ACAGAGTGAGACTCCGTCTCAATAAATTAAAAAAAAAAAAAGAAAGAAAG AAACACCAAATGGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCGCTT TGGGAGGCTGAGGCAGGCAGATTGCTTGAGGTCAAGAATTTGAGACCAAC CTGGGCAACATGGCAAAATCCAGACTCTATTAAAAAAATACAAAAGTTAG CCAAGCATGGTGGCACATGCCTATAGTCCCAGCTACTCGGGAGGCTGAGA GGTAGGAGGATCGCTCGAGCCCAGGAGGTTGAGGATACAGTGAGCTATGA TCACACCACTGCGCTCCAGCCCCAGTGACAGAGCAAGACTCTGCCTCTAA AAAAAAAAAAAAAAACCTCAAATTACTAAAAGCATGATACTAGTCAATGA CAGAGGCAAAACTTGAACCCAGGTGTTTTTAATTCTATATATTTAAATAA ACTGCCCCCCTTTTGGGCTCCACATCTCCAAGTGGAAGATTGAAAAGAGG GCCTGGAAATCTCGGACTAAGAGAACTTCTTTCCTAGTCTTCACGTCACT ATTAATAGAAGCAAAGAGGATCACCCAGAACTCCAAATACTCTATGCAAA ATCTGTAACATTACTTCCCCTCAACACACAGGCCTCCCCACCAGGTTAGA CCACCGCTAGGTTCGACCATCAGGACTAATCTCATTCTGTCCCTTATCCC TGTTTACACTGGACTCCTCAAGGAACCCAGGAGTCCTGGGTCATCCCTCA TGCCCTGGATAGTAATCCCCATATAGTTATATGGGCAGCAATACACCCTC CATCCAACACTTCCTATCCCCCACCCTGCTGTTTTCTGTTTCCCCATAGC TCTTACCCATTTATCACTATCTGATCGGACATTTACTTCCTTTTTTTTTT TTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGTAGTGCAG TGGCGCGATCTCTGCTCACTGCAACCTCCTCCTCCCGGATTCCAGTGATT CTTCTGCCTCAGCCTCCAGAGTAGCTAGGATTACAGGCATGCACCACCAT GCCCAGCTAATTTTTGTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGA ACTCCTGACCTCAGGTGATCCACTCGCCTCGGCCTCCCAAAATGCTGGGA TTACAGGCGTGAGCCACTGTGCCCGGCTGAAATGTACTATTTTTTAACTT GTTTATCTGGCTCTCTACCCAGTGAAATCTAAGCTTTTTTTTTTTTTTTT TTTTTTTTTTAGAAATAGAGAAGAGGTCTCTCTATGTTGCCCAGGCTACT CTCAAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGCCTACCAAAGTGC TAGGATTACAGGCATGAGCCAGCACACCAAAACCTAAGCTTTTTGAGGCA AGATTTTATTCATCACTGTATTGACAAGCACGTAGAAGAGTGCCTGACAT CAAGTAAGCACTGATATATATTCGTTGAATGAATAAAGAGTAAATGAGTG TTTCTTCCTCTTGCACAGGTATGCAAAGGAAAGGAGTACAGTGCCTTCCA ATTCGTATTGAATATGTCCAGCAAAATTACTGTATTATTACCCTCCTGCA TTTCTAAAGATTATTCCACAGCAACCAACTAAGGTTGCTGTGAGAAACTC TTAGGTTTGTGAGCCATTGCCCAAGGACATAGCTATTGGTCTCGAGAGGA ATGAGGTAAGTTCTACCACTACTTCTGGGAAAGTATATTCCATGTCCCAA CATTTATTCAATCAGCCAGGAAACGTTTCCTGAGTTCCTAATTTGTGCCA GACACTGTTCTAGGGACTGAAGATAAAGTGGTGAAAAAAGCAGATACCAT CCCTGCCTTCAAGGAGCCTAGCCTTCATTAGGGAGTGATAAACACTGTGG TAAAAAAGAAAGCTGGGTAAGGGATTATAGAGTGTTGAGGAGTGCTGCTT AGATAGGGTGGTTTCTTTTGTTTATTTTTAATTTCAGTAGTTTTTGGGGT AAAGGTAGGTTTTGGTTACATGGGTAAGTTCTTCAGCGGTGATTTCTGAG ATTTTGGTGCACCCATCAACCGAGCATATAGTCTTTTATTCCTTGCCCCT CTTTTACCTTTCTTTCCCTTGGGGTTCCTAAAGTCCATTATATAATTCCT ATGCCTTTGCATCCTCATAGCTTAGCTCCCACTTATAAGTGAGAACAGAC AATATTTGGTTTTCCATTCCTGAGTCACTTCACTTAGAATAATGGCCTCC TGGCCGGGCTCAGTGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCG AGATGGGTGGATCACTTGAAGCCAGGAGTTTGAAACCAGTCTGGCCAACA TGACGAAACCCCATCTCTACTAAAATACAAAAAAAAAAAAAAAAAAAAAT TAGCCAGGCGTGGTGGCAGGCAATCCCAGCTACTTGGGAGGCTGAAGCAC TTGAACCTGGGGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACT TCAGCCTGGGTGACAGAGAGACTCAGCTTTCACAGAATTGAAGAGAGTTG GGGCCTTGCTCTGGGTTAGGCTTTGACTTAAGGAAATGTTGTGGCTGGGT TCATCTGTCCAGATCACTGAAACTTTCTCCCTATCAGCAATAAGGCTGTT TTGCTTTCTTATCATTTGTGTGTTCACTAAAGGGAATTTTAAATTTCCTT CAAGGGTTTTTCCTTTGCATTGATAATTTGGATAAATGACTGGCACAAGA GGCCTGGCTTTTGGCCTATCTTGGCTTTTGCCATGCCTTCCTCACTAAGC TTAATCATTTCTAGCTTTTGATTTAAAGTGAGACGTAATACTTCCTCCTT TCATCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAATGCTAGGATTATA GGCATGAGCCACCTTGCCCAGCCCTAGAGTTATTTTTGAATAAAACAAAC ACATGACTGTTACAAATTAACTCTAAACACAGTGGAGAATCTCAGCTTTC TACACCACACTGTATCACACTCTACTCCACTTCCTAAGAGCACTGGGCAA GTGTAAAGTCACAGCCACATCAAAGAATTGAAATCTCAAGTGTGGTGATT CTTTTGTTTCTGATCTAAATTAATAATTTGTTGGTTGTATTAGATATGAT TACACACCCCCTTCTCTTTTTTTCAAATAAATGAAAAAATGCTATCTCAG CTGCCTGCCTAGACTAAGAAACAAGTATTCACAATGAAGGTATTTATCAG CTCCCCTTCTTCCTCCTATAAAATAATACCACCACCATCACCACCATGCC ATCCCCTGCCCCCAACAACCTTCGTCCACTTTTTTTTTTTTTTGAGAAGG AGTCTCACTCTGTCGCCCAGGCTGGAGTACACCGGAGTGATCTCGGCTCA CTGCAACCTCCACCTCTGGGATTCAAACAATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTAAAGGTGCGTGCCACCACGCCCAGCTAATTTTTGCA TTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACT CCTGACCTCAGGTGATCCGCCTGCCTTGGCCACCCAAAGTGCTGGGACTG GAGGTGTGAGCCACCGCGCCCGGCCTCTCCACATTTTATTAGGGCTTTTT GTGTGATATTTGTCATCAAAAGGATCTCCACTGCACCTCAATTTTGCACA TGAAATGTTTGTAAAGGCCAGAGAAATTGACGAGATAGCAGGTTTCTGAA GTTTTTGTGGTCTATTGTAACTATTATAACAACTCTTATCAAAATGTGGT TCTCAGGCCATTGGCATCAGCATCACCTTAGTCTGCTGAGAATGCAGATT TCCAGGCACCTCCCTAGAGTCTACTGAATGAGATGGCCTGAAGCTGAGGC CTGGGATTCTGTATGCATAAAAAAAGAGAGTCTCTGGTCTATAATAGATC TTACAATCCACCAGCCTAGTTTAATGACACTTTTACCTTCAAACAGATTG CCTTTATGCTATACCAGGGCAATACTCAGGGGACCTCTTTCAATCCCAGA AATTCTTCCTAATTTTTAGGAATACCTACAAATCATTCCTATACATTGGT TAAGAATCCTATCATAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGAGAGGCCAAGGTGGGTGGATTACCTGACGTTGGGAGTTCAAGA CCAGCCTGACCAACATGAAGAAACCCGGTCTCTACTAAAAATACAAAAAA ATCAGTCAGACTTCGTGGTGCATGCCTGTAATCCCAGCTACTCGAGAGGC TAAGGCAGGAGAATCGCTTGAATCCAGATGGAGGTTGCTGTAAGCTGAGA TCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAA AAAACAAAAAAAGAATCCTATCATAGGCTGGGTGTGGTGGCTCATGCCTG TAATCGCAGCACTTTAGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGG AGTTTGAGACCAGCCTGGCCAACAAGGTGAAATCCCGTCTCTACTAAAAA ATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTATTCCCAGCTA CCTGGGAGGCTGAGACAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGCAA AACTCCATCTCAAAAAAAAAAAAAAAAATCCTATGATAACTTCTTACTTT TTGGTGGAAAGTGCTTTCTCTCCATGTGAGCAAGGAGACTCAGCTTGATC CAGGAGCTCCTGCCACTGTTGGGAACAGGCTCTTTGGTTGTGGTATCAGT AAAGGACTGATAGGCATCCGGGAAGTGCCTCTTTTGAACTCTCAGTAAGC TGACTTGATTGCTTCGTTCCACCAAGCAGTTGGATTCACGCTTTTTGTTT ATCTCCTCCAGGAGATGTTGTTTGCTTACTCCATGTTTTTTCATTATTTC AATGGTTCTGTTTATAGATGCCATTATGGTCACAAACCAATTGTCAAGTG ATTCTTGCTGTCCTACAAACAAATGAAAAAATACTTTCAATTGTCTTTTT GACTCAGAAGCCAGTATTCACAATCACGTTTGCCAGTTTCTCTTTTTGCC TTCTATAAAATAACACCACAACCACCACCAAGCCTCCCACCCCACGCTTC ACTTTTTTATTTACTTATTTTTTTAGACAGGGTCTTGCTCTGTCGCCCAG GTTGACACACAGTGGCATGATCTCAGCTCACTGCAACTTCCACCTTCCAG ATTCAAGTGATTCTTGTGCCTCAGCCTCCTAAGTAGCTGGAATTACAGGC GCGCACTACCATGCCTGGCTAATTTTTCTATTATCAGTAGAGATGGGGTT TCGCCATGCTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGTGATCCAC CCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCC CGGACAGCACACCTCACTTTTTTTTTATTTTTTTATTTTTTGAGATGGAG TCTCACTCTGTTGCCAAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACT GCAACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGA GTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTT TTTTTGTATTTTTAGTAAAGACGGGGTGTCACCATATTGGCCAGGTTGGT CTCGAACTCCTGAAGTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCGTACCCGGCCACACCTCACTTTTTATTAT TGTTTCTTAAGGGTTTTATTTTTTGTTTTTTAGGTGTTCTTCAGGGGAAA CAAAGGTTAAAAAGATATGGTAAGAGGATATATTATTGTTTTTTAAAATT ATACTATGCATTGTTTTTTGCTTTTAGAAGCATTATTTCTTCTGATTATA AAAATAATACATGTTTATTACATATATTAATAATGTAATAGATAAATAAT ACATGTTTAATACATGATTATAAAAATAATACATATTCATGGTAGATAAT TAAGAAAATACAGAAAAAGATAAAGTAGAAAAGTTAAAATTACTCTCGAT CCAGAGACATCCATTAATATTTTGGGTGTTACTTTCCCAATAAGTATCCA AAGGGATTTTATTTTTTAAAAGTGGCGGCCAGGCGCTGTGGCTCATGCCT GTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGA GTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAAT ACAAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTC AGGAGCCTGAGGCATGAGAGTCGCTTGAACCCGGGAGGCAGAGGTTGCAG TGAGCTGAGATCACGCGATTGCACTCCAGCCTGTGCGACAGTGTGAGACT CTGTCTCAAAAAATAAAATAAAATAAAGTGGCCAGGCGCAGTGGCTCACG CCTATAATCCCAACACTTTGGAAGGCCTAGGTGGGAGGATCACTTAAGCC TGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCC TGGGTGTCAGAGCAAGATTTGGAAAGATAGCGAAATATTCAGCACTGATA AATGATACAGTCCACAGTCTCAAGAAGCTCAAACAATAGCAGTCAGGATT TTTAAAAAGCCCACGCTGAGATTACAGTGAACTTAAAAAGAAAAGAAAAT CTTAAAAGCAACCAGAGAATAAAAGGAGGGACAATTGGACCAACAGCTGA CTCCTCAACAAGCAATAACATAAACCAGAAGACAAAGAAATGGGGCTGGG CGTGATGGCTCACACCTACAATCCCAGCACTTTGGGAGGCCGAGGTGTAT GGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGTTCAACATGGCAAAA CCCTGTCACTACTAAAAATACATAAAAAAATTAACCGGGCATGGTGGTAT GCACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGA ACCTGGGAGGCGAGGTTGCGGTGAGTCAAGATCATAGCACTACACTCCAG CTTGGGCGGCAGAGCAGGACTTTGTCTAAAAAAAAAAAAAAAAATACATT CGTCATCATCAGTCACTAGGAAAGTGTAAATCAATACTACAATGAGATAT CACTACATACCACTAGAATGGCTGAAATGAAAAAGACTGACCAAACCATG TGTTAGCAAAGATATGGAGGACCTGGAATTCTCATATGCTGCTAGTGAGA ATGTAAAATGGAACAATGTCTGGAAAATAATCATGCAGCTTCTTAAAAAG TTAAACATACTCCTATCATTTGATCCATTCCTAGGTATTTACCCTAGAGC AATGAAATTCTCCAAACACATGCATAAAGAAATGTATCTGTACATATGAA AACTAACACATGAATGTTAATCACAGCTTTTTAAAAAACTTTTGTTGTTG TTGTTGTTGTTTTTACACAGCTTTATTTTTATTTATTTATTTTTGAGACA GGGTCTCTTTCTGTCACCCAGGCTAGAGTGAAGTGGCGTGACCATGGCTC ACGGCATCCTCGACCTCCCAGGCTCAAGCCATCTTCCCACCTCAGCCTCC CAAGTAGCTGGGATACAGGCGCAGGCCACCACACCTGGCTATTTTTGTTT TTATTTTTCATAGAGATGAGGTCTCATTATGTTCCTAAGGCTAGTCTTGA ATCCTGGGCTCAAGGGATCCTCCTGCCTTGGCCTCCCAGAGTACTGAGAT TACAGGTGTGAGCACAGCCACCAGGCCCAGCCCACTGCTTTATTTTTATG AGCCAAAAAGTTCTAACAACCCAAATGTCCATCAGAAGCAGAACAAATAA ATTGTGGTATATGTGCACAATTGACACTGAGTTATAAAATATATTTATAT ATATTATATATATATATAATATATTCCTTTTACCTGAGATGCTAATTCAT CAATATATATTTTTGAGTAGTGTTCATATATTGTTGATAAACACAATATT ATGGCTGAAGCTCAAAATAACTATGCTGAGTAAAAAGAAAAAAAAAAAGC CAGACAAATCAGAATGTATAGTGTACGATTCCATGCATATAAAACTCTAG GAAATATTAGGCTAGGTATGGTGGCTCATGCCTATAATCCCAGCACTTTG GAAAGCTGAGGAAGGAGGACTGCTTGAGCTCAGGAGTTCAAGACCAGACT AAGCAATATAATGAGACCTTGTCTCTACAGAAAATTCAAGAATTTAACTA GGTGTGGTGGCACCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGG AAGGATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTGATCACA AAACTGCACTCCAGCTTGGGCAACACAGCAAGACCCTATGTCAAAAAAAA AAAAAAATGCTAGGAAATATGAAGTCCCCTACAGTGACAAATGAAAATCA ATGGTTGCTTGGGAATGGGGAAAGGTAGGCAGCAAGGGTGGCAGGGATTA CAAGGGATATGAATAAACTTTGGGGCTGATGAATATGTTTATTATCTTAA TTGTGGTGATGCTTTCCTGGGTGTATGCATATGTCAAAAACATCAAACTG TACATTTTAAACATGGACAGTTCATTGTATGTCAATGACCAGTCAATAAA GCTCTTACATAAAATTGGGCTGAGTACCTAGCACATTGCCTAATGAATAT CAGGTGGTTGATAAATATTTTAATGAATGAATAAATAGTATATATTACTT ACAAGTTTTGATTTTCTTTCACTTTAATATAGTTATTGTGAGAATTTTTC ATGTCTTTACATATGTCATTAGTAATAAAAATGTAAGATTTGACAATGTA ATAGTCTATCATGTGAATTTATAATTTTTTTTCTTTTTTTAAATTTAATT TTAGTGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGA GGCCAAGGCAGGCAGATCACCTGTCAGGAGTTCAAGACCAGCCTGGCCAA CATGGTGAAACCCCGTCTTTACAAAAATACAAAACTTAGCCGGGCGTGGT GGCGCGCACCTGTAATCCCAGCTACTTGGAAGGCTGATTCGGAAGAAT	A A	exon_loss_variant exon_loss_variant	HIGH	HG00738.hp1 HG00741.hp2 HG03492.hp1 others(8): Show HG00738.hp1 HG00741.hp2 HG03492.hp1 HG03688.hp1 HG04199.hp1 NA18952.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA20300.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0002 a0002c0000t0002	a0002c0000t0002g0010 a0002c0000t0002g0017 a0002c0000t0002g0022 others(1): Show a0002c0000t0002g0010 a0002c0000t0002g0017 a0002c0000t0002g0022 a0002c0000t0002g0056	11	400	0.0275	-11297	c.-38 others(14): Show c.-38-4136_*1215del		SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding	3/3					chr1	TogoVar
SUN2_chr22_38729734_38760998	38749811	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01433.hp1 HG01928.hp1 HG03471.hp2 others(7): Show HG01433.hp1 HG01928.hp1 HG03471.hp2 NA18978.hp2 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18993.hp2 NA19062.hp2 NA19067.hp2	a0005 a0018 a0005 a0018	a0005c0006 a0005c0010 a0005c0011 others(2): Show a0005c0006 a0005c0010 a0005c0011 a0005c0017 a0018c0027	a0005c0006t0001 a0005c0006t0004 a0005c0006t0011 others(4): Show a0005c0006t0001 a0005c0006t0004 a0005c0006t0011 a0005c0010t0002 a0005c0011t0002 a0005c0017t0002 a0018c0027t0001	a0005c0006t0001g0072 a0005c0006t0001g0103 a0005c0006t0004g0052 others(7): Show a0005c0006t0001g0072 a0005c0006t0001g0103 a0005c0006t0004g0052 a0005c0006t0011g0104 a0005c0010t0002g0119 a0005c0010t0002g0157 a0005c0011t0002g0120 a0005c0011t0002g0171 a0005c0017t0002g0127 a0018c0027t0001g0096	10	348	0.0287	1	c.568 others(4): Show c.568dupC	p.Arg others(5): Show p.Arg190fs	SUN2	ENSG00000100242.16	transcript	ENST00000689035.1	protein_coding	6/18	841/3960	568/2154	190/717		chr22	TogoVar
TAP2_chr6_32820415_32843739	32828908	A A	G G	stop_lost stop_lost	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0008 a0009 a0014 a0015 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0002c0002 a0002c0006 others(19): Show a0001c0001 a0002c0002 a0002c0006 a0002c0008 a0002c0016 a0002c0032 a0002c0033 a0002c0035 a0002c0036 a0006c0011 a0006c0014 a0006c0021 a0008c0019 a0008c0029 a0009c0013 a0014c0024 a0015c0041 a0016c0028 a0017c0044 a0018c0038 a0020c0025 a0023c0030	a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 others(28): Show a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0002c0006t0001 a0002c0006t0003 a0002c0006t0025 a0002c0006t0027 a0002c0006t0040 a0002c0008t0001 a0002c0008t0003 a0002c0016t0001 a0002c0032t0001 a0002c0033t0001 a0002c0035t0001 a0002c0036t0003 a0006c0011t0001 a0006c0014t0003 a0006c0021t0001 a0008c0019t0003 a0008c0029t0003 a0009c0013t0017 a0014c0024t0001 a0015c0041t0039 a0016c0028t0001 a0017c0044t0026 a0018c0038t0028 a0020c0025t0003 a0023c0030t0003	a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0059 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0197 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0222 a0002c0002t0003g0016 a0002c0002t0003g0051 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0127 a0002c0002t0003g0137 a0002c0002t0003g0141 a0002c0002t0026g0195 a0002c0002t0037g0166 a0002c0002t0038g0167 a0002c0006t0001g0062 a0002c0006t0001g0151 a0002c0006t0001g0163 a0002c0006t0001g0173 a0002c0006t0003g0008 a0002c0006t0003g0011 a0002c0006t0003g0073 a0002c0006t0003g0076 a0002c0006t0003g0078 a0002c0006t0003g0079 a0002c0006t0003g0092 a0002c0006t0003g0107 a0002c0006t0003g0117 a0002c0006t0003g0129 a0002c0006t0003g0131 a0002c0006t0003g0132 a0002c0006t0003g0143 a0002c0006t0025g0050 a0002c0006t0027g0142 a0002c0006t0040g0158 a0002c0008t0001g0004 a0002c0008t0003g0034 a0002c0016t0001g0028 a0002c0032t0001g0208 a0002c0033t0001g0198 a0002c0035t0001g0194 a0002c0036t0003g0105 a0006c0011t0001g0009 a0006c0011t0001g0201 a0006c0014t0003g0055 a0006c0014t0003g0085 a0006c0014t0003g0110 a0006c0021t0001g0038 a0008c0019t0003g0086 a0008c0019t0003g0087 a0008c0019t0003g0108 a0008c0029t0003g0144 a0009c0013t0017g0022 a0014c0024t0001g0066 a0015c0041t0039g0156 a0016c0028t0001g0160 a0017c0044t0026g0220 a0018c0038t0028g0140 a0020c0025t0003g0070 a0023c0030t0003g0124	159	484	0.3285	0	c.205 others(4): Show c.2059T>C	p.Ter others(11): Show p.Ter687Glnext*?	TAP2	ENSG00000204267.19	transcript	ENST00000374897.4	protein_coding	12/12	2150/5643	2059/2061	687/686		chr6	TogoVar
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0019 a0001c0001t0002g0116 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0154 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0266 a0001c0003t0001g0011 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0043 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0080 a0001c0003t0001g0099 a0001c0005t0001g0092 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0147 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0034 a0002c0007t0001g0163 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0003c0008t0006g0114 a0003c0008t0006g0115 a0004c0009t0001g0108	273	307	0.8893	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr4	TogoVar
TEDC1_chr14_105486246_105504248	105497878	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(27): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01175.hp1 HG01952.hp2 HG02055.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG03098.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 NA18950.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19067.hp1 NA19090.hp1 NA19090.hp2	a0002 a0006 a0011 others(2): Show a0002 a0006 a0011 a0021 a0024	a0002c0003 a0002c0011 a0002c0022 others(4): Show a0002c0003 a0002c0011 a0002c0022 a0006c0010 a0011c0014 a0021c0020 a0024c0027	a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 others(8): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0012 a0002c0011t0002 a0002c0022t0002 a0006c0010t0001 a0011c0014t0001 a0021c0020t0002 a0024c0027t0001	a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 others(22): Show a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0030 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0119 a0002c0003t0003g0012 a0002c0003t0005g0002 a0002c0003t0008g0137 a0002c0003t0012g0101 a0002c0011t0002g0014 a0002c0011t0002g0133 a0002c0022t0002g0014 a0006c0010t0001g0006 a0011c0014t0001g0001 a0021c0020t0002g0081 a0024c0027t0001g0142	30	433	0.0693	1	c.106 others(5): Show c.1064dupG	p.Gly others(5): Show p.Gly356fs	TEDC1	ENSG00000185347.19	transcript	ENST00000392523.9	protein_coding	8/9	1195/1920	1065/1488	355/495	INFO_REALIGN_3_PRIME	chr14	TogoVar
TEX26_chr13_30927656_30980500	30956872	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0276 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0316	102	412	0.2476	0	c.313 others(5): Show c.313-1G>A		TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	3/6					chr13	TogoVar
THSD7B_chr2_136760545_137682718	137272664	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02109.hp2 HG03225.hp2 NA18993.hp2 others(1): Show HG02109.hp2 HG03225.hp2 NA18993.hp2 NA19084.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0021 a0004c0008 a0004c0055 others(1): Show a0001c0021 a0004c0008 a0004c0055 a0013c0015	a0001c0021t0004 a0004c0008t0001 a0004c0055t0003 others(1): Show a0001c0021t0004 a0004c0008t0001 a0004c0055t0003 a0013c0015t0005	a0001c0021t0004g0071 a0004c0008t0001g0040 a0004c0055t0003g0076 others(1): Show a0001c0021t0004g0071 a0004c0008t0001g0040 a0004c0055t0003g0076 a0013c0015t0005g0098	4	96	0.0417	0	c.239 others(6): Show c.2396+2C>T		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	11/27					chr2	TogoVar
TMEM59L_chr19_18607870_18626039	18616056	GCCCAGGG others(39): Show GCCCAGGGATTTGTCTCCTCCACCTGGACATACTACTTGCAGACTGA	G G	frameshift_variant frameshift_variant	HIGH	NA18993.hp1 NA18993.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0085 a0006c0008t0006g0085	1	406	0.0025	-46	c.492 others(53): Show c.492_537delCCAGGGATTTGTCTCCTCCACCTGGACATACTACTTGC AGACTGAC	p.Gln others(5): Show p.Gln165fs	TMEM59L	ENSG00000105696.9	transcript	ENST00000262817.8	protein_coding	4/8	581/1621	492/1029	164/342	INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0010 a0002c0015 others(7): Show a0002c0002 a0002c0010 a0002c0015 a0002c0018 a0002c0020 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0010t0002 a0002c0015t0002 a0002c0018t0002 a0002c0020t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0011g0022 a0002c0002t0019g0058 a0002c0002t0024g0094 a0002c0002t0027g0174 a0002c0010t0002g0023 a0002c0010t0002g0067 a0002c0010t0002g0084 a0002c0010t0002g0087 a0002c0010t0002g0104 a0002c0010t0002g0113 a0002c0015t0002g0105 a0002c0018t0002g0114 a0002c0020t0002g0090 a0003c0005t0006g0028 a0003c0005t0006g0054 a0003c0005t0006g0065 a0003c0005t0006g0070 a0003c0005t0006g0071 a0003c0005t0006g0076 a0003c0005t0006g0078 a0003c0005t0006g0097 a0003c0005t0006g0101 a0003c0005t0006g0112 a0003c0005t0006g0115 a0003c0005t0007g0019 a0003c0005t0007g0069 a0003c0005t0007g0077 a0003c0005t0007g0095 a0003c0005t0007g0107 a0003c0009t0004g0018 a0003c0009t0004g0059 a0003c0009t0004g0060 a0003c0009t0004g0061 a0003c0009t0004g0109 a0003c0009t0004g0110 a0003c0009t0015g0096 a0003c0016t0006g0106 a0003c0017t0004g0068 a0003c0019t0023g0066	100	392	0.2551	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418		chr4	TogoVar
TMPRSS3_chr21_42366890_42401052	42383199	C C	CTA CTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show HG00408.hp1 HG00408.hp2 HG00621.hp2 HG01070.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02602.hp2 HG02818.hp1 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0010	a0001c0001 a0002c0003 a0002c0007 others(6): Show a0001c0001 a0002c0003 a0002c0007 a0004c0006 a0006c0010 a0006c0015 a0006c0021 a0007c0011 a0010c0026	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(16): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0018 a0002c0007t0001 a0002c0007t0002 a0002c0007t0006 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0010 a0006c0010t0002 a0006c0010t0013 a0006c0015t0003 a0006c0021t0006 a0007c0011t0001 a0010c0026t0002	a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0022 a0002c0003t0001g0032 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0167 a0002c0003t0001g0176 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0187 a0002c0003t0001g0212 a0002c0003t0001g0215 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0250 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0271 a0002c0003t0001g0273 a0002c0003t0001g0283 a0002c0003t0001g0288 a0002c0003t0001g0296 a0002c0003t0001g0299 a0002c0003t0002g0023 a0002c0003t0002g0028 a0002c0003t0002g0081 a0002c0003t0002g0111 a0002c0003t0002g0149 a0002c0003t0002g0152 a0002c0003t0002g0232 a0002c0003t0002g0246 a0002c0003t0002g0253 a0002c0003t0002g0276 a0002c0003t0002g0279 a0002c0003t0003g0142 a0002c0003t0003g0297 a0002c0003t0004g0241 a0002c0003t0004g0278 a0002c0003t0018g0141 a0002c0007t0001g0210 a0002c0007t0001g0236 a0002c0007t0002g0344 a0002c0007t0002g0350 a0002c0007t0006g0261 a0002c0007t0006g0351 a0004c0006t0001g0309 a0004c0006t0001g0316 a0004c0006t0001g0324 a0004c0006t0001g0327 a0004c0006t0001g0342 a0004c0006t0002g0317 a0004c0006t0004g0001 a0004c0006t0004g0285 a0004c0006t0004g0301 a0004c0006t0004g0303 a0004c0006t0010g0047 a0006c0010t0002g0368 a0006c0010t0002g0369 a0006c0010t0013g0377 a0006c0015t0003g0061 a0006c0015t0003g0062 a0006c0021t0006g0072 a0007c0011t0001g0035 a0007c0011t0001g0353 a0010c0026t0002g0376	102	470	0.2170	2	c.617 others(13): Show c.617-3_617-2dupTA		TMPRSS3	ENSG00000160183.17	transcript	ENST00000644384.2	protein_coding	7/12					chr21	TogoVar
TMPRSS4_chr11_118072078_118126890	118094815	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0020 a0001c0002t0039 a0001c0002t0041 a0001c0012t0002 a0002c0003t0005 a0005c0006t0005 a0005c0006t0044	a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 a0001c0001t0003g0129 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0024 a0001c0001t0004g0174 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0007g0183 a0001c0001t0021g0181 a0001c0001t0021g0190 a0001c0001t0042g0225 a0001c0001t0043g0197 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0038 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0198 a0001c0002t0002g0240 a0001c0002t0002g0245 a0001c0002t0002g0342 a0001c0002t0002g0362 a0001c0002t0006g0002 a0001c0002t0006g0008 a0001c0002t0006g0009 a0001c0002t0006g0083 a0001c0002t0006g0091 a0001c0002t0006g0092 a0001c0002t0006g0112 a0001c0002t0006g0115 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0006g0131 a0001c0002t0006g0145 a0001c0002t0006g0305 a0001c0002t0016g0002 a0001c0002t0016g0114 a0001c0002t0020g0203 a0001c0002t0039g0136 a0001c0002t0041g0110 a0001c0012t0002g0113 a0001c0012t0002g0123 a0002c0003t0005g0106 a0002c0003t0005g0156 a0002c0003t0005g0162 a0005c0006t0005g0005 a0005c0006t0005g0053 a0005c0006t0005g0055 a0005c0006t0005g0071 a0005c0006t0005g0121 a0005c0006t0005g0320 a0005c0006t0044g0054	130	404	0.3218	0	c.4-1 others(3): Show c.4-1A>G		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	1/12					chr11	TogoVar
TMPRSS6_chr22_37060436_37114713	37069345	CTGGGG CTGGGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0006 a0001c0009 others(21): Show a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0001c0034 a0001c0038 a0001c0039 a0001c0047 a0001c0054 a0001c0072 a0001c0077 a0002c0001 a0002c0012 a0002c0014 a0002c0016 a0002c0019 a0002c0061 a0002c0062 a0003c0029 a0004c0044 a0004c0060 a0004c0066 a0005c0025	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(22): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0013t0001 a0001c0015t0001 a0001c0034t0001 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0054t0001 a0001c0072t0001 a0001c0077t0001 a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0002c0016t0001 a0002c0019t0001 a0002c0061t0001 a0002c0062t0001 a0003c0029t0001 a0004c0044t0001 a0004c0060t0001 a0004c0066t0001 a0005c0025t0001	a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 a0001c0005t0001g0197 a0001c0005t0001g0227 a0001c0005t0001g0245 a0001c0005t0001g0250 a0001c0005t0001g0269 a0001c0005t0002g0016 a0001c0005t0002g0309 a0001c0005t0002g0325 a0001c0005t0002g0329 a0001c0006t0001g0008 a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0121 a0001c0006t0001g0127 a0001c0006t0001g0128 a0001c0006t0001g0132 a0001c0006t0001g0133 a0001c0006t0001g0137 a0001c0006t0001g0160 a0001c0006t0001g0294 a0001c0009t0001g0001 a0001c0009t0001g0040 a0001c0009t0001g0055 a0001c0009t0001g0069 a0001c0013t0001g0066 a0001c0015t0001g0163 a0001c0015t0001g0165 a0001c0015t0001g0166 a0001c0015t0001g0167 a0001c0015t0001g0169 a0001c0015t0001g0170 a0001c0034t0001g0162 a0001c0034t0001g0164 a0001c0038t0001g0300 a0001c0039t0001g0259 a0001c0047t0001g0074 a0001c0054t0001g0134 a0001c0072t0001g0032 a0001c0077t0001g0171 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0113 a0002c0001t0001g0161 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0182 a0002c0001t0001g0185 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0232 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0263 a0002c0001t0001g0265 a0002c0001t0001g0285 a0002c0001t0001g0290 a0002c0001t0001g0293 a0002c0012t0001g0183 a0002c0012t0001g0184 a0002c0012t0001g0195 a0002c0012t0001g0214 a0002c0014t0001g0012 a0002c0014t0001g0282 a0002c0016t0001g0047 a0002c0019t0001g0046 a0002c0019t0001g0048 a0002c0019t0001g0067 a0002c0019t0001g0068 a0002c0061t0001g0271 a0002c0062t0001g0181 a0003c0029t0001g0006 a0004c0044t0001g0302 a0004c0060t0001g0255 a0004c0066t0001g0086 a0005c0025t0001g0034 a0005c0025t0001g0035 a0005c0025t0001g0100	125	306	0.4085	-5	c.184 others(18): Show c.1842-6_1842-2delCCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17					chr22	TogoVar
TNK2_chr3_195858364_195913551	195868357	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp1 NA18949.hp1 NA18960.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18992.hp2 NA18993.hp2 NA19030.hp2 NA19054.hp2 NA19083.hp1	a0002 a0010 a0011 others(3): Show a0002 a0010 a0011 a0018 a0024 a0028	a0002c0004 a0002c0008 a0002c0010 others(20): Show a0002c0004 a0002c0008 a0002c0010 a0002c0018 a0002c0023 a0002c0026 a0002c0027 a0002c0041 a0002c0044 a0002c0057 a0002c0060 a0002c0065 a0002c0066 a0002c0067 a0002c0068 a0002c0072 a0002c0073 a0002c0074 a0010c0079 a0011c0076 a0018c0035 a0024c0051 a0028c0048	a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 others(24): Show a0002c0004t0001 a0002c0004t0002 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0018t0001 a0002c0018t0003 a0002c0023t0001 a0002c0026t0001 a0002c0026t0009 a0002c0027t0001 a0002c0041t0001 a0002c0044t0006 a0002c0057t0004 a0002c0060t0001 a0002c0065t0002 a0002c0066t0002 a0002c0067t0001 a0002c0068t0001 a0002c0072t0001 a0002c0073t0001 a0002c0074t0001 a0010c0079t0001 a0011c0076t0001 a0018c0035t0004 a0024c0051t0001 a0028c0048t0001	a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 a0002c0004t0001g0268 a0002c0004t0001g0281 a0002c0004t0001g0330 a0002c0004t0001g0340 a0002c0004t0001g0347 a0002c0004t0002g0136 a0002c0004t0002g0161 a0002c0004t0002g0237 a0002c0004t0002g0257 a0002c0004t0002g0314 a0002c0004t0002g0320 a0002c0004t0002g0352 a0002c0008t0001g0018 a0002c0008t0001g0183 a0002c0008t0001g0201 a0002c0008t0001g0215 a0002c0008t0002g0174 a0002c0008t0002g0254 a0002c0008t0002g0333 a0002c0010t0001g0032 a0002c0010t0001g0038 a0002c0010t0001g0042 a0002c0010t0001g0050 a0002c0010t0001g0051 a0002c0010t0001g0061 a0002c0018t0001g0139 a0002c0018t0001g0153 a0002c0018t0003g0143 a0002c0023t0001g0025 a0002c0023t0001g0205 a0002c0026t0001g0071 a0002c0026t0009g0102 a0002c0027t0001g0117 a0002c0027t0001g0119 a0002c0041t0001g0034 a0002c0044t0006g0023 a0002c0057t0004g0232 a0002c0060t0001g0236 a0002c0065t0002g0300 a0002c0066t0002g0238 a0002c0067t0001g0086 a0002c0068t0001g0082 a0002c0072t0001g0095 a0002c0073t0001g0078 a0002c0074t0001g0093 a0010c0079t0001g0052 a0011c0076t0001g0080 a0018c0035t0004g0229 a0024c0051t0001g0206 a0028c0048t0001g0125	53	370	0.1432	1	c.194 others(5): Show c.1940dupC	p.Pro others(5): Show p.Pro648fs	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	13/16	2025/4070	1940/3168	647/1055		chr3	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(270): 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	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0013	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0010c0012 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0010c0012t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0056 a0001c0006t0003g0032 a0001c0006t0003g0046 a0001c0006t0003g0096 a0001c0006t0003g0097 a0001c0011t0001g0119 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0005c0007t0001g0108 a0005c0007t0001g0109 a0005c0007t0001g0113 a0006c0008t0001g0118 a0006c0008t0001g0124 a0007c0009t0001g0123 a0008c0017t0001g0125 a0010c0012t0001g0132 a0013c0013t0001g0129	273	422	0.6469	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
USP17L18_chr4_9243630_9255222	9248650	C C	G G	stop_gained stop_gained	HIGH	HG00140.hp2 HG00323.hp1 HG01952.hp2 others(3): Show HG00140.hp2 HG00323.hp1 HG01952.hp2 NA18982.hp2 NA18993.hp2 NA19081.hp2	a0001 a0001	a0001c0016 a0001c0030 a0001c0085 a0001c0016 a0001c0030 a0001c0085	a0001c0016t0001 a0001c0030t0001 a0001c0085t0001 a0001c0016t0001 a0001c0030t0001 a0001c0085t0001	a0001c0016t0001g0000 a0001c0030t0001g0000 a0001c0085t0001g0000 a0001c0016t0001g0000 a0001c0030t0001g0000 a0001c0085t0001g0000	6	210	0.0286	0	c.21C others(2): Show c.21C>G	p.Tyr others(2): Show p.Tyr7*	USP17L18	ENSG00000250844.3	transcript	ENST00000504209.1	protein_coding	1/1	21/1593	21/1593	7/530		chr4	TogoVar
USP17L18_chr4_9243630_9255222	9248825	G G	T T	stop_gained stop_gained	HIGH	HG00408.hp2 HG00609.hp2 HG01070.hp2 others(5): Show HG00408.hp2 HG00609.hp2 HG01070.hp2 NA18962.hp1 NA18966.hp2 NA18993.hp1 NA19081.hp1 NA19240.hp2	a0001 a0001	a0001c0013 a0001c0029 a0001c0082 others(1): Show a0001c0013 a0001c0029 a0001c0082 a0001c0083	a0001c0013t0001 a0001c0029t0001 a0001c0082t0001 others(1): Show a0001c0013t0001 a0001c0029t0001 a0001c0082t0001 a0001c0083t0001	a0001c0013t0001g0000 a0001c0029t0001g0000 a0001c0082t0001g0000 others(1): Show a0001c0013t0001g0000 a0001c0029t0001g0000 a0001c0082t0001g0000 a0001c0083t0001g0000	8	210	0.0381	0	c.196 others(3): Show c.196G>T	p.Glu others(3): Show p.Glu66*	USP17L18	ENSG00000250844.3	transcript	ENST00000504209.1	protein_coding	1/1	196/1593	196/1593	66/530		chr4	TogoVar
VWA8_chr13_41561835_41966109	41887196	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18993.hp1 NA18993.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0040 a0016c0014t0001g0040	1	248	0.0040	0	c.816 others(5): Show c.816+1G>C		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	6/44					chr13	TogoVar
VWA8_chr13_41561835_41966109	41887209	A A	T T	stop_gained stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0040 a0016c0014t0001g0040	1	248	0.0040	0	c.804 others(3): Show c.804T>A	p.Tyr others(4): Show p.Tyr268*	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	6/45	898/7174	804/5718	268/1905		chr13	TogoVar
VWA8_chr13_41561835_41966109	41887235	G G	A A	stop_gained stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0040 a0016c0014t0001g0040	1	248	0.0040	0	c.778 others(3): Show c.778C>T	p.Arg others(4): Show p.Arg260*	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	6/45	872/7174	778/5718	260/1905		chr13	TogoVar
VWA8_chr13_41561835_41966109	41887269	A A	C C	stop_gained stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0040 a0016c0014t0001g0040	1	248	0.0040	0	c.744 others(3): Show c.744T>G	p.Tyr others(4): Show p.Tyr248*	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	6/45	838/7174	744/5718	248/1905		chr13	TogoVar
VWA8_chr13_41561835_41966109	41887304	G G	A A	stop_gained stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0040 a0016c0014t0001g0040	1	248	0.0040	0	c.709 others(3): Show c.709C>T	p.Arg others(4): Show p.Arg237*	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	6/45	803/7174	709/5718	237/1905		chr13	TogoVar
VWDE_chr7_12325885_12408865	12351642	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0002 a0009 a0012 others(7): Show a0002 a0009 a0012 a0014 a0017 a0020 a0022 a0028 a0049 a0062	a0002c0002 a0002c0042 a0002c0043 others(9): Show a0002c0002 a0002c0042 a0002c0043 a0009c0064 a0012c0011 a0014c0014 a0017c0025 a0020c0019 a0022c0030 a0028c0029 a0049c0038 a0062c0059	a0002c0002t0002 a0002c0042t0002 a0002c0043t0002 others(10): Show a0002c0002t0002 a0002c0042t0002 a0002c0043t0002 a0009c0064t0001 a0012c0011t0002 a0014c0014t0001 a0014c0014t0006 a0017c0025t0001 a0020c0019t0002 a0022c0030t0001 a0028c0029t0001 a0049c0038t0002 a0062c0059t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0045 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0042t0002g0252 a0002c0043t0002g0269 a0009c0064t0001g0159 a0012c0011t0002g0015 a0012c0011t0002g0260 a0012c0011t0002g0267 a0012c0011t0002g0268 a0014c0014t0001g0018 a0014c0014t0001g0089 a0014c0014t0001g0141 a0014c0014t0006g0235 a0017c0025t0001g0109 a0017c0025t0001g0158 a0020c0019t0002g0263 a0020c0019t0002g0264 a0020c0019t0002g0265 a0022c0030t0001g0173 a0022c0030t0001g0174 a0028c0029t0001g0019 a0049c0038t0002g0257 a0062c0059t0002g0256	72	372	0.1935	1	c.381 others(5): Show c.3816dupT	p.Lys others(6): Show p.Lys1273fs	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	19/29	3965/5220	3816/4773	1272/1590		chr7	TogoVar
VWDE_chr7_12325885_12408865	12375099	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0002 a0009 a0012 others(3): Show a0002 a0009 a0012 a0017 a0022 a0044	a0002c0002 a0002c0039 a0002c0040 others(12): Show a0002c0002 a0002c0039 a0002c0040 a0002c0041 a0002c0042 a0002c0043 a0009c0012 a0009c0026 a0009c0064 a0009c0065 a0012c0011 a0017c0025 a0017c0056 a0022c0030 a0044c0045	a0002c0002t0002 a0002c0039t0002 a0002c0040t0002 others(12): Show a0002c0002t0002 a0002c0039t0002 a0002c0040t0002 a0002c0041t0002 a0002c0042t0002 a0002c0043t0002 a0009c0012t0001 a0009c0026t0001 a0009c0064t0001 a0009c0065t0002 a0012c0011t0002 a0017c0025t0001 a0017c0056t0001 a0022c0030t0001 a0044c0045t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0045 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0039t0002g0243 a0002c0040t0002g0249 a0002c0041t0002g0266 a0002c0042t0002g0252 a0002c0043t0002g0269 a0009c0012t0001g0016 a0009c0012t0001g0017 a0009c0012t0001g0053 a0009c0026t0001g0190 a0009c0026t0001g0223 a0009c0064t0001g0159 a0009c0065t0002g0237 a0012c0011t0002g0015 a0012c0011t0002g0260 a0012c0011t0002g0267 a0012c0011t0002g0268 a0017c0025t0001g0109 a0017c0025t0001g0158 a0017c0056t0001g0124 a0022c0030t0001g0173 a0022c0030t0001g0174 a0044c0045t0002g0271	73	372	0.1962	0	c.115 others(4): Show c.1153C>T	p.Arg others(4): Show p.Arg385*	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	8/29	1302/5220	1153/4773	385/1590		chr7	TogoVar
ZAN_chr7_100728595_100802797	100773853	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(147): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18964.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0002 a0005 a0006 others(24): Show a0002 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0020 a0022 a0027 a0029 a0030 a0032 a0033 a0034 a0035 a0037 a0038 a0039 a0040 a0043	a0002c0003 a0002c0012 a0002c0017 others(65): Show a0002c0003 a0002c0012 a0002c0017 a0002c0032 a0002c0046 a0002c0068 a0002c0069 a0002c0070 a0002c0071 a0002c0072 a0002c0080 a0002c0091 a0005c0005 a0005c0009 a0005c0055 a0005c0057 a0005c0085 a0005c0086 a0006c0007 a0006c0031 a0006c0074 a0006c0075 a0006c0076 a0006c0094 a0007c0010 a0007c0016 a0007c0028 a0007c0029 a0007c0064 a0007c0065 a0009c0015 a0009c0018 a0009c0088 a0009c0089 a0010c0037 a0010c0038 a0010c0099 a0010c0100 a0010c0101 a0010c0102 a0011c0026 a0011c0033 a0012c0020 a0012c0093 a0013c0034 a0013c0061 a0013c0062 a0014c0036 a0014c0096 a0016c0013 a0017c0077 a0017c0078 a0017c0079 a0018c0019 a0020c0030 a0022c0027 a0027c0084 a0029c0042 a0030c0083 a0032c0066 a0033c0081 a0034c0103 a0035c0040 a0037c0059 a0038c0041 a0039c0056 a0040c0052 a0043c0082	a0002c0003t0001 a0002c0012t0001 a0002c0017t0001 others(65): Show a0002c0003t0001 a0002c0012t0001 a0002c0017t0001 a0002c0032t0001 a0002c0046t0001 a0002c0068t0001 a0002c0069t0001 a0002c0070t0001 a0002c0071t0001 a0002c0072t0001 a0002c0080t0001 a0002c0091t0001 a0005c0005t0001 a0005c0009t0001 a0005c0055t0001 a0005c0057t0001 a0005c0085t0001 a0005c0086t0001 a0006c0007t0001 a0006c0031t0001 a0006c0074t0001 a0006c0075t0001 a0006c0076t0001 a0006c0094t0001 a0007c0010t0001 a0007c0016t0001 a0007c0028t0001 a0007c0029t0001 a0007c0064t0001 a0007c0065t0001 a0009c0015t0001 a0009c0018t0001 a0009c0088t0001 a0009c0089t0001 a0010c0037t0002 a0010c0038t0002 a0010c0099t0002 a0010c0100t0002 a0010c0101t0002 a0010c0102t0002 a0011c0026t0001 a0011c0033t0001 a0012c0020t0001 a0012c0093t0001 a0013c0034t0001 a0013c0061t0001 a0013c0062t0001 a0014c0036t0002 a0014c0096t0002 a0016c0013t0001 a0017c0077t0001 a0017c0078t0001 a0017c0079t0001 a0018c0019t0001 a0020c0030t0001 a0022c0027t0001 a0027c0084t0001 a0029c0042t0001 a0030c0083t0001 a0032c0066t0001 a0033c0081t0001 a0034c0103t0002 a0035c0040t0001 a0037c0059t0001 a0038c0041t0001 a0039c0056t0003 a0040c0052t0001 a0043c0082t0001	a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 others(147): Show a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 a0002c0003t0001g0121 a0002c0003t0001g0141 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0191 a0002c0003t0001g0226 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0259 a0002c0003t0001g0262 a0002c0012t0001g0080 a0002c0012t0001g0081 a0002c0012t0001g0082 a0002c0012t0001g0083 a0002c0017t0001g0113 a0002c0017t0001g0136 a0002c0017t0001g0137 a0002c0032t0001g0179 a0002c0032t0001g0181 a0002c0046t0001g0208 a0002c0068t0001g0269 a0002c0069t0001g0180 a0002c0070t0001g0144 a0002c0071t0001g0079 a0002c0072t0001g0225 a0002c0080t0001g0272 a0002c0091t0001g0249 a0005c0005t0001g0069 a0005c0005t0001g0070 a0005c0005t0001g0071 a0005c0005t0001g0102 a0005c0005t0001g0230 a0005c0005t0001g0241 a0005c0005t0001g0242 a0005c0005t0001g0243 a0005c0005t0001g0244 a0005c0005t0001g0247 a0005c0005t0001g0252 a0005c0005t0001g0271 a0005c0009t0001g0130 a0005c0009t0001g0132 a0005c0009t0001g0138 a0005c0009t0001g0139 a0005c0009t0001g0248 a0005c0009t0001g0250 a0005c0055t0001g0131 a0005c0057t0001g0246 a0005c0085t0001g0251 a0005c0086t0001g0054 a0006c0007t0001g0119 a0006c0007t0001g0150 a0006c0007t0001g0151 a0006c0007t0001g0153 a0006c0007t0001g0158 a0006c0007t0001g0159 a0006c0007t0001g0160 a0006c0007t0001g0235 a0006c0007t0001g0236 a0006c0031t0001g0171 a0006c0031t0001g0261 a0006c0074t0001g0140 a0006c0075t0001g0152 a0006c0076t0001g0231 a0006c0094t0001g0283 a0007c0010t0001g0278 a0007c0010t0001g0281 a0007c0010t0001g0282 a0007c0010t0001g0294 a0007c0010t0001g0295 a0007c0010t0001g0296 a0007c0016t0001g0109 a0007c0016t0001g0266 a0007c0016t0001g0267 a0007c0028t0001g0298 a0007c0028t0001g0299 a0007c0029t0001g0279 a0007c0029t0001g0280 a0007c0064t0001g0297 a0007c0065t0001g0270 a0009c0015t0001g0133 a0009c0015t0001g0134 a0009c0015t0001g0135 a0009c0018t0001g0275 a0009c0018t0001g0276 a0009c0018t0001g0277 a0009c0088t0001g0274 a0009c0089t0001g0058 a0010c0037t0002g0039 a0010c0037t0002g0040 a0010c0038t0002g0044 a0010c0038t0002g0045 a0010c0099t0002g0003 a0010c0100t0002g0043 a0010c0101t0002g0041 a0010c0102t0002g0042 a0011c0026t0001g0154 a0011c0026t0001g0265 a0011c0033t0001g0111 a0011c0033t0001g0183 a0012c0020t0001g0060 a0012c0020t0001g0285 a0012c0020t0001g0286 a0012c0093t0001g0284 a0013c0034t0001g0254 a0013c0034t0001g0268 a0013c0061t0001g0117 a0013c0062t0001g0300 a0014c0036t0002g0038 a0014c0036t0002g0047 a0014c0096t0002g0037 a0016c0013t0001g0105 a0016c0013t0001g0106 a0016c0013t0001g0107 a0017c0077t0001g0291 a0017c0078t0001g0290 a0017c0079t0001g0292 a0018c0019t0001g0063 a0018c0019t0001g0064 a0018c0019t0001g0065 a0020c0030t0001g0257 a0020c0030t0001g0258 a0022c0027t0001g0165 a0022c0027t0001g0264 a0027c0084t0001g0053 a0029c0042t0001g0307 a0030c0083t0001g0052 a0032c0066t0001g0304 a0033c0081t0001g0145 a0034c0103t0002g0048 a0035c0040t0001g0305 a0037c0059t0001g0182 a0038c0041t0001g0306 a0039c0056t0003g0301 a0040c0052t0001g0124 a0043c0082t0001g0293	150	306	0.4902	-1	c.576 others(5): Show c.5768delG	p.Cys others(6): Show p.Cys1923fs	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	31/48	5964/8700	5768/8439	1923/2812		chr7	TogoVar
ZAN_chr7_100728595_100802797	100779516	A A	AGGGC AGGGC	frameshift_variant frameshift_variant	HIGH	HG01928.hp1 HG02015.hp1 HG02132.hp2 others(19): Show HG01928.hp1 HG02015.hp1 HG02132.hp2 HG02155.hp1 HG02602.hp2 HG02735.hp2 HG03017.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA19011.hp2 NA19012.hp1 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0069 a0005c0005 a0005c0009 others(3): Show a0002c0069 a0005c0005 a0005c0009 a0005c0055 a0005c0085 a0005c0086	a0002c0069t0001 a0005c0005t0001 a0005c0009t0001 others(3): Show a0002c0069t0001 a0005c0005t0001 a0005c0009t0001 a0005c0055t0001 a0005c0085t0001 a0005c0086t0001	a0002c0069t0001g0180 a0005c0005t0001g0069 a0005c0005t0001g0070 others(19): Show a0002c0069t0001g0180 a0005c0005t0001g0069 a0005c0005t0001g0070 a0005c0005t0001g0071 a0005c0005t0001g0102 a0005c0005t0001g0230 a0005c0005t0001g0241 a0005c0005t0001g0242 a0005c0005t0001g0243 a0005c0005t0001g0244 a0005c0005t0001g0247 a0005c0005t0001g0252 a0005c0005t0001g0271 a0005c0009t0001g0130 a0005c0009t0001g0132 a0005c0009t0001g0138 a0005c0009t0001g0139 a0005c0009t0001g0248 a0005c0009t0001g0250 a0005c0055t0001g0131 a0005c0085t0001g0251 a0005c0086t0001g0054	22	306	0.0719	4	c.639 others(13): Show c.6391_6394dupGCGG	p.Ala others(6): Show p.Ala2132fs	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	35/48	6591/8700	6395/8439	2132/2812	INFO_REALIGN_3_PRIME	chr7	TogoVar
ZC3H3_chr8_143432659_143546447	143440217	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(50): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG02056.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG03017.hp1 HG03704.hp2 NA18747.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19083.hp2 NA19087.hp1 NA19091.hp1 NA20805.hp2	a0003 a0010 a0013 others(3): Show a0003 a0010 a0013 a0035 a0038 a0039	a0003c0003 a0003c0042 a0003c0051 others(5): Show a0003c0003 a0003c0042 a0003c0051 a0010c0012 a0013c0016 a0035c0034 a0038c0032 a0039c0041	a0003c0003t0002 a0003c0003t0006 a0003c0042t0002 others(6): Show a0003c0003t0002 a0003c0003t0006 a0003c0042t0002 a0003c0051t0002 a0010c0012t0002 a0013c0016t0002 a0035c0034t0002 a0038c0032t0002 a0039c0041t0002	a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 others(50): Show a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0125 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0006g0146 a0003c0042t0002g0107 a0003c0051t0002g0143 a0010c0012t0002g0294 a0010c0012t0002g0306 a0010c0012t0002g0307 a0010c0012t0002g0308 a0010c0012t0002g0316 a0010c0012t0002g0345 a0013c0016t0002g0017 a0013c0016t0002g0019 a0013c0016t0002g0050 a0013c0016t0002g0051 a0035c0034t0002g0008 a0038c0032t0002g0222 a0039c0041t0002g0080	53	350	0.1514	0	c.263 others(4): Show c.2639C>A	p.Ser others(4): Show p.Ser880*	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	11/12	2665/3270	2639/2847	880/948		chr8	TogoVar

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