Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

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
SULT1C2_chr2_108283895_108314915	108308425	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG02109.hp1 HG02257.hp2 HG02451.hp1 others(4): Show HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02809.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0011 a0003c0003 a0008c0011	a0003c0003t0001 a0008c0011t0001 a0003c0003t0001 a0008c0011t0001	a0003c0003t0001g0013 a0003c0003t0001g0129 a0008c0011t0001g0066 a0003c0003t0001g0013 a0003c0003t0001g0129 a0008c0011t0001g0066	7	340	0.0206	-1	c.853 others(4): Show c.853delA	p.Met others(5): Show p.Met285fs	SULT1C2	ENSG00000198203.10	transcript	ENST00000251481.11	protein_coding	8/8	1050/2539	853/891	285/296		chr2	TogoVar
SURF2_chr9_133351550_133366158	133357790	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01106.hp2 HG01496.hp1 others(12): Show HG00741.hp1 HG01106.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG02027.hp2 HG02109.hp2 NA18950.hp1 NA18968.hp1 NA18974.hp1 NA18977.hp1 NA18997.hp2 NA19002.hp2 NA19043.hp2 NA19079.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0003c0008 a0007c0014 a0003c0003 a0003c0008 a0007c0014	a0003c0003t0001 a0003c0008t0001 a0007c0014t0001 a0003c0003t0001 a0003c0008t0001 a0007c0014t0001	a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0042 others(2): Show a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0042 a0003c0008t0001g0002 a0007c0014t0001g0008	15	445	0.0337	1	c.315 others(4): Show c.315dupG	p.Tyr others(5): Show p.Tyr106fs	SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding	3/6	359/833	316/771	106/256	INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNE2_chr14_63848004_64231433	63993818	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0023 a0024 a0026 a0028 a0031 a0032 a0034 a0035 a0040 a0041 a0043 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0055 a0057 a0061 a0062 a0063 a0065 a0069 a0070 a0071 a0073	a0001c0004 a0001c0005 a0001c0009 others(51): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0025 a0001c0054 a0002c0001 a0002c0058 a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0004c0003 a0006c0010 a0007c0007 a0011c0017 a0011c0043 a0012c0008 a0015c0016 a0016c0014 a0017c0012 a0019c0031 a0019c0032 a0020c0024 a0020c0048 a0023c0087 a0024c0041 a0024c0042 a0026c0037 a0028c0081 a0031c0038 a0032c0049 a0034c0072 a0035c0036 a0040c0029 a0041c0039 a0043c0050 a0046c0046 a0047c0027 a0049c0026 a0050c0082 a0051c0052 a0052c0040 a0053c0047 a0055c0059 a0057c0066 a0061c0033 a0062c0062 a0063c0061 a0065c0060 a0069c0051 a0070c0045 a0071c0030 a0073c0063	a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 others(59): Show a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0009t0002 a0001c0018t0001 a0001c0025t0002 a0001c0054t0001 a0002c0001t0001 a0002c0001t0003 a0002c0058t0002 a0003c0002t0001 a0003c0002t0006 a0003c0002t0009 a0003c0015t0002 a0003c0034t0001 a0003c0035t0002 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0006c0010t0004 a0007c0007t0001 a0011c0017t0003 a0011c0043t0001 a0012c0008t0003 a0015c0016t0001 a0015c0016t0005 a0016c0014t0001 a0017c0012t0001 a0019c0031t0004 a0019c0032t0001 a0020c0024t0001 a0020c0048t0001 a0023c0087t0002 a0024c0041t0001 a0024c0042t0002 a0026c0037t0001 a0028c0081t0004 a0031c0038t0002 a0032c0049t0002 a0034c0072t0002 a0035c0036t0001 a0040c0029t0003 a0041c0039t0004 a0043c0050t0005 a0046c0046t0001 a0047c0027t0001 a0049c0026t0002 a0050c0082t0001 a0051c0052t0005 a0052c0040t0002 a0053c0047t0003 a0055c0059t0002 a0057c0066t0004 a0061c0033t0002 a0062c0062t0001 a0063c0061t0002 a0065c0060t0007 a0069c0051t0002 a0070c0045t0001 a0071c0030t0003 a0073c0063t0004	a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 a0001c0005t0004g0062 a0001c0009t0002g0027 a0001c0018t0001g0026 a0001c0018t0001g0065 a0001c0025t0002g0084 a0001c0054t0001g0046 a0002c0001t0001g0014 a0002c0001t0001g0078 a0002c0001t0003g0033 a0002c0058t0002g0038 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0009g0009 a0003c0015t0002g0011 a0003c0015t0002g0012 a0003c0034t0001g0015 a0003c0035t0002g0070 a0004c0003t0002g0051 a0004c0003t0002g0066 a0004c0003t0003g0052 a0004c0003t0004g0050 a0006c0010t0004g0079 a0006c0010t0004g0080 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 a0011c0017t0003g0025 a0011c0017t0003g0088 a0011c0043t0001g0089 a0012c0008t0003g0007 a0012c0008t0003g0064 a0012c0008t0003g0095 a0015c0016t0001g0150 a0015c0016t0005g0148 a0016c0014t0001g0098 a0016c0014t0001g0099 a0017c0012t0001g0073 a0017c0012t0001g0097 a0019c0031t0004g0102 a0019c0032t0001g0103 a0020c0024t0001g0146 a0020c0048t0001g0043 a0023c0087t0002g0077 a0024c0041t0001g0036 a0024c0042t0002g0069 a0026c0037t0001g0013 a0028c0081t0004g0041 a0031c0038t0002g0028 a0032c0049t0002g0108 a0034c0072t0002g0018 a0035c0036t0001g0001 a0040c0029t0003g0086 a0041c0039t0004g0067 a0043c0050t0005g0042 a0046c0046t0001g0123 a0047c0027t0001g0083 a0049c0026t0002g0074 a0050c0082t0001g0100 a0051c0052t0005g0053 a0052c0040t0002g0149 a0053c0047t0003g0090 a0055c0059t0002g0049 a0057c0066t0004g0076 a0061c0033t0002g0075 a0062c0062t0001g0072 a0063c0061t0002g0034 a0065c0060t0007g0024 a0069c0051t0002g0047 a0070c0045t0001g0124 a0071c0030t0003g0101 a0073c0063t0004g0030	78	143	0.5455	1	c.264 others(7): Show c.2647-3dupT		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	21/115				INFO_REALIGN_3_PRIME	chr14	TogoVar
TAMALIN_chr12_52001946_52020889	52014908	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show HG00423.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02886.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18944.hp2 NA18956.hp2 NA18960.hp1 NA18985.hp2 NA18997.hp1 NA19010.hp1 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19082.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0006 a0007c0013 a0002c0002 a0002c0006 a0007c0013	a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0007c0013t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(15): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0023 a0002c0002t0001g0029 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0055 a0002c0002t0001g0075 a0002c0002t0002g0003 a0002c0006t0001g0002 a0007c0013t0001g0003	35	378	0.0926	1	c.902 others(4): Show c.902dupC	p.Pro others(5): Show p.Pro302fs	TAMALIN	ENSG00000161835.11	transcript	ENST00000293662.9	protein_coding	8/8	977/1952	903/1188	301/395	INFO_REALIGN_3_PRIME	chr12	TogoVar
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
TDRD12_chr19_32714767_32834580	32826678	AAC AAC	A A	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0006 a0009 a0019 a0021 a0023 a0026	a0002c0003 a0002c0010 a0003c0002 others(7): Show a0002c0003 a0002c0010 a0003c0002 a0005c0005 a0006c0006 a0009c0009 a0019c0022 a0021c0024 a0023c0020 a0026c0030	a0002c0003t0001 a0002c0003t0011 a0002c0003t0033 others(20): Show a0002c0003t0001 a0002c0003t0011 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0040 a0002c0003t0041 a0002c0010t0001 a0002c0010t0039 a0003c0002t0002 a0005c0005t0006 a0005c0005t0014 a0005c0005t0027 a0006c0006t0006 a0006c0006t0014 a0006c0006t0028 a0009c0009t0001 a0019c0022t0001 a0021c0024t0001 a0023c0020t0001 a0026c0030t0001	a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 others(110): Show a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0200 a0002c0003t0001g0201 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0217 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0237 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0252 a0002c0003t0001g0254 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0273 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0376 a0002c0003t0011g0010 a0002c0003t0011g0104 a0002c0003t0011g0190 a0002c0003t0011g0198 a0002c0003t0011g0241 a0002c0003t0011g0274 a0002c0003t0033g0203 a0002c0003t0034g0210 a0002c0003t0035g0242 a0002c0003t0036g0202 a0002c0003t0037g0207 a0002c0003t0040g0227 a0002c0003t0041g0236 a0002c0010t0001g0218 a0002c0010t0001g0251 a0002c0010t0001g0255 a0002c0010t0039g0256 a0003c0002t0002g0083 a0005c0005t0006g0111 a0005c0005t0006g0112 a0005c0005t0006g0114 a0005c0005t0006g0116 a0005c0005t0006g0117 a0005c0005t0006g0120 a0005c0005t0006g0121 a0005c0005t0006g0292 a0005c0005t0014g0115 a0005c0005t0014g0262 a0005c0005t0027g0122 a0006c0006t0006g0113 a0006c0006t0006g0119 a0006c0006t0006g0238 a0006c0006t0006g0246 a0006c0006t0014g0118 a0006c0006t0014g0259 a0006c0006t0028g0261 a0009c0009t0001g0224 a0009c0009t0001g0225 a0009c0009t0001g0226 a0009c0009t0001g0275 a0019c0022t0001g0247 a0021c0024t0001g0253 a0023c0020t0001g0264 a0026c0030t0001g0216	115	378	0.3042	-2	c.382 others(15): Show c.3823-3_3823-2delCA		TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	31/32				INFO_REALIGN_3_PRIME	chr19	TogoVar
THNSL1_chr10_25011612_25031664	25023170	G G	GA GA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp1 HG02055.hp2 HG02109.hp1 others(6): Show HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0036 a0001c0003t0003g0037 others(2): Show a0001c0003t0003g0022 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0078 a0001c0003t0003g0079	9	410	0.0220	1	c.-48 others(6): Show c.-48-2dupA		THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding	2/2				INFO_REALIGN_3_PRIME	chr10	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
TIGD6_chr5_149988118_150005654	149996157	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0004c0006 a0004c0007 others(2): Show a0004c0004 a0004c0006 a0004c0007 a0004c0013 a0006c0008	a0004c0004t0006 a0004c0004t0009 a0004c0004t0017 others(5): Show a0004c0004t0006 a0004c0004t0009 a0004c0004t0017 a0004c0006t0003 a0004c0006t0015 a0004c0007t0003 a0004c0013t0012 a0006c0008t0008	a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 a0004c0004t0006g0060 a0004c0004t0009g0019 a0004c0004t0017g0072 a0004c0006t0003g0010 a0004c0006t0015g0047 a0004c0007t0003g0021 a0004c0013t0012g0035 a0006c0008t0008g0018	36	434	0.0829	-1	c.191 others(4): Show c.191delG	p.Gly others(4): Show p.Gly64fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	453/3493	191/1566	64/521		chr5	TogoVar
TMEM216_chr11_61387587_61403846	61398269	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0006t0001 a0002c0004t0001 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0008g0001 a0001c0005t0001g0001 a0001c0006t0001g0001 a0002c0004t0001g0020 a0003c0003t0001g0001 a0004c0007t0001g0001	175	267	0.6554	0	c.432 others(5): Show c.432-1G>C		TMEM216	ENSG00000187049.11	transcript	ENST00000515837.7	protein_coding	4/4					chr11	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
TMPRSS6_chr22_37060436_37114713	37069345	C C	CTGGGGTG others(8): Show CTGGGGTGGGGTGGGG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp2 HG02109.hp1 HG02572.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG06807.hp1	a0001 a0005 a0016 a0001 a0005 a0016	a0001c0007 a0001c0017 a0001c0020 others(3): Show a0001c0007 a0001c0017 a0001c0020 a0001c0055 a0005c0024 a0016c0043	a0001c0007t0001 a0001c0017t0001 a0001c0020t0001 others(3): Show a0001c0007t0001 a0001c0017t0001 a0001c0020t0001 a0001c0055t0001 a0005c0024t0001 a0016c0043t0010	a0001c0007t0001g0031 a0001c0007t0001g0070 a0001c0007t0001g0076 others(8): Show a0001c0007t0001g0031 a0001c0007t0001g0070 a0001c0007t0001g0076 a0001c0007t0001g0158 a0001c0017t0001g0145 a0001c0017t0001g0146 a0001c0020t0001g0093 a0001c0055t0001g0305 a0005c0024t0001g0004 a0005c0024t0001g0101 a0016c0043t0010g0097	12	193	0.0622	15	c.184 others(29): Show c.1842-16_1842-2dupCCCCACCCCACCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17					chr22	TogoVar
TNK2_chr3_195858364_195913551	195867836	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp2 HG01175.hp2 HG01934.hp1 others(5): Show HG00741.hp2 HG01175.hp2 HG01934.hp1 HG02109.hp1 HG02148.hp1 HG02523.hp1 HG02615.hp1 HG04228.hp1	a0002 a0007 a0015 others(2): Show a0002 a0007 a0015 a0018 a0023	a0002c0067 a0002c0072 a0007c0025 others(4): Show a0002c0067 a0002c0072 a0007c0025 a0007c0069 a0015c0038 a0018c0035 a0023c0063	a0002c0067t0001 a0002c0072t0001 a0007c0025t0001 others(4): Show a0002c0067t0001 a0002c0072t0001 a0007c0025t0001 a0007c0069t0001 a0015c0038t0001 a0018c0035t0004 a0023c0063t0002	a0002c0067t0001g0086 a0002c0072t0001g0095 a0007c0025t0001g0100 others(5): Show a0002c0067t0001g0086 a0002c0072t0001g0095 a0007c0025t0001g0100 a0007c0025t0001g0217 a0007c0069t0001g0262 a0015c0038t0001g0039 a0018c0035t0004g0229 a0023c0063t0002g0242	8	370	0.0216	1	c.246 others(5): Show c.2461dupC	p.Arg others(5): Show p.Arg821fs	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	13/16	2546/4070	2461/3168	821/1055		chr3	TogoVar
TPPP2_chr14_21025217_21037815	21032059	C C	G G	stop_gained stop_gained	HIGH	HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show HG02109.hp2 HG02572.hp1 HG02809.hp1 HG03130.hp1 HG03540.hp2 NA20129.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0004 a0003c0003t0007g0019 a0003c0003t0007g0004 a0003c0003t0007g0019	7	480	0.0146	0	c.495 others(3): Show c.495C>G	p.Tyr others(4): Show p.Tyr165*	TPPP2	ENSG00000179636.15	transcript	ENST00000321760.11	protein_coding	4/4	652/1408	495/513	165/170		chr14	TogoVar
TPSD1_chr16_1251069_1264008	1256558	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show HG00140.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18962.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0012 a0002c0018 others(3): Show a0002c0002 a0002c0012 a0002c0018 a0002c0019 a0004c0004 a0004c0007	a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 others(23): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0018 a0002c0002t0042 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0092 a0002c0012t0002 a0002c0012t0028 a0002c0018t0088 a0002c0019t0078 a0004c0004t0002 a0004c0004t0006 a0004c0004t0077 a0004c0004t0079 a0004c0004t0090 a0004c0007t0087 a0004c0007t0089 a0004c0007t0091 a0004c0007t0093	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0008g0005 a0002c0002t0008g0016 a0002c0002t0016g0005 a0002c0002t0018g0002 a0002c0002t0042g0013 a0002c0002t0080g0015 a0002c0002t0081g0002 a0002c0002t0082g0005 a0002c0002t0083g0002 a0002c0002t0084g0002 a0002c0002t0085g0002 a0002c0002t0086g0002 a0002c0002t0092g0002 a0002c0012t0002g0002 a0002c0012t0028g0002 a0002c0018t0088g0002 a0002c0019t0078g0002 a0004c0004t0002g0002 a0004c0004t0006g0002 a0004c0004t0006g0012 a0004c0004t0077g0012 a0004c0004t0079g0002 a0004c0004t0090g0002 a0004c0007t0087g0008 a0004c0007t0089g0008 a0004c0007t0091g0008 a0004c0007t0093g0008	72	268	0.2687	-1	c.127 others(4): Show c.127delG	p.Glu others(4): Show p.Glu43fs	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	2/5	339/1573	127/729	43/242	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM48_chr11_55257155_55276114	55269336	T T	C C	stop_lost stop_lost	HIGH	HG01346.hp2 HG01433.hp1 HG02109.hp1 others(8): Show HG01346.hp2 HG01433.hp1 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG06807.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0007g0008 a0001c0001t0008g0013	11	270	0.0407	0	c.673 others(3): Show c.673T>C	p.Ter others(11): Show p.Ter225Argext*?	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding	5/6	786/1467	673/675	225/224		chr11	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
TRIM51G_chr11_48970498_48988885	48979006	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0002 a0011 a0012 a0002 a0011 a0012	a0002c0002 a0002c0004 a0002c0015 others(3): Show a0002c0002 a0002c0004 a0002c0015 a0002c0016 a0011c0018 a0012c0010	a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 others(3): Show a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 a0002c0016t0002 a0011c0018t0002 a0012c0010t0002	a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0004t0002g0010 a0002c0004t0002g0018 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0044 a0002c0004t0002g0045 a0002c0004t0002g0057 a0002c0004t0002g0062 a0002c0004t0002g0070 a0002c0004t0002g0079 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0086 a0002c0004t0002g0090 a0002c0004t0002g0092 a0002c0004t0002g0094 a0002c0015t0002g0069 a0002c0016t0002g0087 a0011c0018t0002g0072 a0012c0010t0002g0067	139	422	0.3294	0	c.604 others(3): Show c.604C>T	p.Gln others(4): Show p.Gln202*	TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/7	755/1510	604/1359	202/452		chr11	TogoVar
TRIM7_chr5_181188924_181210196	181195167	C C	G G	stop_lost stop_lost	HIGH	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0005 a0009c0017t0005	a0009c0017t0005g0120 a0009c0017t0005g0120	1	392	0.0026	0	c.153 others(4): Show c.1535G>C	p.Ter others(11): Show p.Ter512Serext*?	TRIM7	ENSG00000146054.18	transcript	ENST00000274773.12	protein_coding	7/7	1621/2864	1535/1536	512/511		chr5	TogoVar
TTC24_chr1_156574723_156592719	156583439	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show HG00741.hp2 HG01123.hp1 HG01168.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18945.hp2 NA18951.hp2 NA18963.hp2 NA18974.hp1	a0003 a0008 a0010 a0003 a0008 a0010	a0003c0004 a0008c0010 a0010c0011 a0003c0004 a0008c0010 a0010c0011	a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 others(2): Show a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 a0008c0010t0001 a0010c0011t0001	a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 others(9): Show a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 a0003c0004t0001g0031 a0003c0004t0001g0034 a0003c0004t0001g0070 a0003c0004t0006g0006 a0003c0004t0006g0061 a0003c0004t0012g0033 a0008c0010t0001g0012 a0010c0011t0001g0006 a0010c0011t0001g0045	26	440	0.0591	-1	c.114 others(5): Show c.1144delC	p.Gln others(5): Show p.Gln382fs	TTC24	ENSG00000187862.13	transcript	ENST00000368236.8	protein_coding	5/11	1184/2958	1144/1749	382/582	INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	GGCCTTCT others(101): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG00642.hp1 HG01433.hp2 HG01975.hp2 others(9): Show HG00642.hp1 HG01433.hp2 HG01975.hp2 HG02109.hp2 HG02145.hp1 HG02300.hp2 HG02698.hp1 HG02922.hp2 HG03098.hp1 HG03492.hp1 HG03927.hp1 HG04228.hp2	a0001 a0005 a0019 others(1): Show a0001 a0005 a0019 a0023	a0001c0002 a0001c0016 a0005c0012 others(2): Show a0001c0002 a0001c0016 a0005c0012 a0019c0056 a0023c0057	a0001c0002t0001 a0001c0016t0003 a0005c0012t0003 others(2): Show a0001c0002t0001 a0001c0016t0003 a0005c0012t0003 a0019c0056t0001 a0023c0057t0001	a0001c0002t0001g0006 a0001c0002t0001g0134 a0001c0002t0001g0159 others(6): Show a0001c0002t0001g0006 a0001c0002t0001g0134 a0001c0002t0001g0159 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0016t0003g0085 a0005c0012t0003g0165 a0019c0056t0001g0300 a0023c0057t0001g0166	12	116	0.1034	-108	c.126 others(12): Show c.1261-96_1272del	p.Phe others(13): Show p.Phe421_Lys425del	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16		1261/2022	421/673	INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0036 a0001c0011t0002g0015 a0001c0013t0002g0026 a0001c0013t0002g0043 a0001c0015t0002g0028 a0001c0031t0002g0037 a0001c0032t0002g0038 a0001c0033t0002g0041 a0001c0034t0002g0042 a0001c0035t0002g0044 a0001c0036t0002g0046 a0001c0037t0002g0047 a0001c0038t0002g0049 a0001c0039t0002g0050 a0001c0040t0002g0051 a0001c0041t0002g0052 a0001c0042t0002g0053	177	426	0.4155	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
TULP2_chr19_48875967_48903744	48883133	GGCGTGAG others(3080): Show GGCGTGAGCCGGGGAGGTCGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAA AGAAAGAAAGAGAGAGTCTAAAAGAAGCAGGAACCCTCAGTTCTGGGAAT TGCCCACCCCTTTCCCAGAAAATTAATGAATAATCCACCTCGTTTAGCAT ATAATCAAGAAATAACCATAAAAATAGCCAACCAGCTGGCCTCAAGGCTG CTTTGCCTATGGAGTAGCCATTCTTTTATTTCTTCTCTAATAAACTTGCT TTCACTTGACTCTACGGACTGGCCCCAAATTCTTTCTTGCCTGAGATCCA AGAACCCTCTCTTGGAGTCTGGATCAGACCCCTTTTTGGTAAGTTTGTTA ACCTACCATCAAACCTTTTTTCTCCAGATGCAAATGTTTTGAGTCTCTAG TCTTTTACTCCCTGAGACATGGAAGGCTAACAAAGTCCTTCAGGCTTCAT GTGACACCTGCAACCCACTGGCCTCCTCTTCCTCCTCTTCTTCTTCCTCC TCTGGGATCTAGGAGGACCGGCCCCAGCCCCTTCTCCATTGACCCAGAGA TTCCTGATGTCAGGGACTCACATTTAGTGGCTGGACATTGATTCGCTGGT TCTGGCTGTTGGTTCCTGGGAGAATCACAGTCATTTTCCGAGGCCCCAGG TATCCTAAGACGTTGGGCTCCTGGGGGTATTACATTCCAGTTGGCCTGGT TCCTTCTTCTGACTATCCTACCCCATTCTCTCATCCCCAGGACACTCACA TAACACACAGCCCCCAGCTCCTGTCTGATCCGGGCAGTATTCCTGGTTAA ATGCTCCCGGTCAGGATTCACCCCATTGTCAAAGATGGTGAACTTGGTGC TGAAGACATTGGATCTGCTCCAGGAAGGGAATGGATAGAATAAAAATACT AAGTGTTACTCTTTGAGTAAGTGTCACTCATCGCATCGACTCTTCCCATC AATCCCCTATGTCTAAGACTATGTCCGAATGTCTAAGAATCATGTTCCTG GCTGGGCACAGGGGCTCACACCTGTAATCCCAGCACTTCAGGAGGCAGAG GCAGGAGGATAGCTTGAGCCTGGGCAAAATGGCAAAACTCCTTCTCTACA AAAAATAGAAAAATTAGTTGGGCGTGGCAGTTTGTGTCTATGGTCCCAGC TCTCAAGAGGCTGAGGTGGGAGGATCACCTGAGCCCCAGAGGTCAAGCCT CCAATGAGCCGTGATCTTGCCACTGCACTCCAGCCTGGGTGACAGAATGA AACCCTGTCTCTAAATAAATATATAAATAAATAAAAATAAATAATTAAAT AAATGAGGCCGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGTGGATCATCTGTGGTTGGGAGTTCAAGACCAGCCTGAC AGACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGT GGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA TTGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCGAGATTACGCCATC GCACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTCAATAATAATAAT AATAATTAAATAAATGAAACAACCATGTTTCCAGCATCCATGGTCCCAGG CCCCCTCATTTCTTGGGTGAGCCATGTACTTTATGTAGCCTCCCTATTTT ATTTAAAGGGCCCTTTAGGAACCCTCTTTTTTTTTTTTTTTTTTTTTTTT TTCTGTTGCCCAAGCTGGAGTGCAGTGGCTCAATCTTAGCTTACCAAGAC CTCTGCCTCCTGGGATCAAGTGATTCTCCTGCATCAGCCTCCCAAGTAGC TGGGATTACAGGTTCACGCCACTATGCCTGGCTAATTTTTGTATTTTTGG TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAGCTCCTGACC TCAAGTGATCCTCCCGCCTCTGCCTCCCAAAGTGCTGAGATTATAGGCGT GAGCCACCTCGCCACTCCCTCTACCTTTTTGGATGCAATAATTCACACAT TCCAGGCCTCTTTTCCCACAGAAAGTTAGGAATCCCAGTCCCTTGCCTGT CAAGGAGTCAAATGCCTTAAATGCCAGCCTACGTTCCAAACCCTTCAGTT CTTCTGGTCCCTGAGCAGGTGGAAGGTATGCTCTGTGGCCTGCTGGGAAA TGGAGTCCCCCTGTCCCTAAGCTCCCTGCTACCTGCTCCTCACCACATGT CAGAGCTCTACCCACCTGACTTTGCCCACGAAATTGTCCCCGTCCCGAGA TAGGTGTGTAGGATCCAGGGAGATGAGGTAATTAGAAGTTTTGCTCCTTC TTCTCTTTCGCCCAGCCAGGAGGAAGCGCTATGGATGAGAGGAACAGTCC ATTAGAATGGACTTCTGGATGCTGGGTGTGGTGGCTCATGCCTGTAATCC CTGCACTTTGGGAGGCTGCGGCGGGCAGATCACTTGAGGACAGGAGTTCG AGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAA AAATTAGCCAGGCGTGGTAGTGCGTGCCTATAGTCCCAGCTAGTAGGGAG GCTAAGGCAGGAGAATTGCTTGAACCCAGGGGGCAGAGGTTGCAGTGAGC TGAGATCGCACCACTGCACTCCAGCCTGGGCAATAGACTGAGACTCCATC TCAAAACAAAAATAAAAAATAATGAAAGAAAAATGGACTTCTGGAAGCTG GTTAGAGCCAGGGGTCCAAAGACAAGGAAACGTCATGTCCCATGATAGAG GAGCCAGTGATGGCACAACAAGCTTCTCAAGACTTACTGGGAGGCCGGGC ACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGCA GATCACGAGGTAAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCT GTAGTCCCAGCTACTCAGAAGGCTGAGACAGGAGAATA	G G	exon_loss_variant exon_loss_variant	HIGH	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0097 a0009c0010t0001g0097	1	362	0.0028	-3087	c.949 others(16): Show c.949-660_1275+620del		TULP2	ENSG00000104804.9	transcript	ENST00000221399.8	protein_coding	11/13					chr19	TogoVar
UGT2B10_chr4_68810994_68837023	68822269	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show HG00609.hp2 HG01167.hp2 HG01884.hp2 HG01934.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18971.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0013 a0015	a0001c0001 a0001c0023 a0004c0006 others(4): Show a0001c0001 a0001c0023 a0004c0006 a0005c0007 a0006c0019 a0013c0017 a0015c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0023t0001 a0004c0006t0002 a0005c0007t0007 a0006c0019t0001 a0013c0017t0005 a0015c0015t0005	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0005g0014 a0001c0001t0005g0059 a0001c0001t0012g0058 a0001c0023t0001g0007 a0004c0006t0002g0034 a0005c0007t0007g0052 a0005c0007t0007g0053 a0005c0007t0007g0054 a0006c0019t0001g0013 a0013c0017t0005g0014 a0015c0015t0005g0055	63	460	0.1370	0	c.868 others(5): Show c.868-2A>C		UGT2B10	ENSG00000109181.12	transcript	ENST00000265403.12	protein_coding	2/5					chr4	TogoVar
ULBP3_chr6_150056053_150074121	150065923	C C	A A	stop_gained stop_gained	HIGH	HG01081.hp1 HG02109.hp1 HG02486.hp1 others(6): Show HG01081.hp1 HG02109.hp1 HG02486.hp1 HG02559.hp2 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG03130.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0011 a0003c0004t0009 a0003c0004t0011	a0003c0004t0009g0018 a0003c0004t0009g0071 a0003c0004t0011g0017 others(1): Show a0003c0004t0009g0018 a0003c0004t0009g0071 a0003c0004t0011g0017 a0003c0004t0011g0098	9	456	0.0197	0	c.328 others(3): Show c.328G>T	p.Glu others(4): Show p.Glu110*	ULBP3	ENSG00000131019.11	transcript	ENST00000367339.7	protein_coding	2/5	383/3111	328/735	110/244		chr6	TogoVar
UMAD1_chr7_7635752_7884223	7673310	T T	TAGC TAGC	start_lost others(1): Show start_lost conservative_inframe_insertion	HIGH	HG00140.hp1 HG00280.hp2 HG00639.hp1 others(27): Show HG00140.hp1 HG00280.hp2 HG00639.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01975.hp2 HG02109.hp2 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp1 NA18959.hp2 NA18960.hp1 NA18975.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 others(7): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0003g0107 a0001c0001t0003g0126 a0001c0001t0003g0172 others(27): Show a0001c0001t0003g0107 a0001c0001t0003g0126 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0238 a0001c0001t0017g0133 a0001c0001t0017g0202 a0001c0001t0017g0247 a0001c0001t0018g0090 a0001c0001t0018g0106 a0001c0001t0018g0181 a0001c0001t0018g0198 a0001c0001t0032g0020 a0001c0001t0032g0112 a0001c0001t0033g0088 a0001c0001t0033g0204 a0001c0001t0034g0164 a0001c0001t0034g0179 a0001c0001t0051g0128 a0001c0001t0052g0134 a0001c0001t0053g0021 a0001c0001t0054g0233	30	69	0.4348	3	c.-3_ others(8): Show c.-3_-1dupGCA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/4	134/2232	1/414	1/137	INFO_REALIGN_3_PRIME	chr7	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(254): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18980.hp2 NA18983.hp1 NA19007.hp1 NA19064.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0009 others(2): Show a0002c0002 a0002c0006 a0002c0009 a0002c0014 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0006t0003 a0002c0006t0020 a0002c0006t0051 a0002c0009t0001 a0002c0014t0063 a0002c0018t0008	a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0071 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0199 a0002c0002t0002g0024 a0002c0002t0002g0041 a0002c0002t0003g0042 a0002c0002t0008g0066 a0002c0002t0008g0085 a0002c0002t0011g0026 a0002c0002t0016g0152 a0002c0002t0031g0091 a0002c0002t0031g0200 a0002c0002t0033g0050 a0002c0002t0048g0067 a0002c0002t0057g0153 a0002c0002t0062g0086 a0002c0006t0003g0108 a0002c0006t0003g0112 a0002c0006t0003g0114 a0002c0006t0020g0072 a0002c0006t0051g0109 a0002c0009t0001g0176 a0002c0009t0001g0260 a0002c0014t0063g0003 a0002c0018t0008g0243	41	299	0.1371	-261	c.735 others(11): Show c.735-229_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733		chr16	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(341): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGGG ATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02055.hp1 HG02056.hp2 HG02109.hp1 others(1): Show HG02055.hp1 HG02056.hp2 HG02109.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0019 a0002c0002 a0002c0006 a0002c0019	a0002c0002t0023 a0002c0006t0044 a0002c0019t0001 a0002c0002t0023 a0002c0006t0044 a0002c0019t0001	a0002c0002t0023g0270 a0002c0002t0023g0290 a0002c0006t0044g0110 others(1): Show a0002c0002t0023g0270 a0002c0002t0023g0290 a0002c0006t0044g0110 a0002c0019t0001g0035	4	262	0.0153	-348	c.735 others(11): Show c.735-316_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733		chr16	TogoVar
USP17L2_chr8_12131435_12143849	12135283	ATAGCATA others(4731): Show ATAGCATAACCTTTTTAATGCTGGCCCTTGTTTCACAGGGAAAAGGCAAA AATGCAAAAATAAGCCGTGTGTCTCCTGGATTCTCTCATCGATTGTTCAT GGTCTGAGATGTTCCCTCCATTTCCAGTTATGCATTGTATGGTGGAATTG CAGTTAGTACATTTGGTGCAAAAATTGTAATGCTGACGAAAGTGGACATG TTCCCTGAACTAAGAGGGACAGCATTTGGGTGTGTCTTCAGGCTCTCTGG CTTACCAGGAATGAAGATCCTGGCTCTAGGGATTTTCCCAAAATGTCTTA GACAGTAAGGAACAGGGCAGAATTGAGGCCCGGCGCCAAGGCCTCTGGGT GTAAAGAAACAGCCCTGGCTTCAAGGGCTCATGAAATTCGGATGATTTTA AGGAGGATGATGGAATGAGAGGACTGTGACCTTTGGCCCCGTTTCTTTCC CTTGTCTTTTCATGGGCCAGGTGTGCTCCATCAGAAGGCTTCGTGCGCCT GATGTAAAGTGTCCTGGGGGAAGAAAGGAGCACTGCTTAGAAAGATGCTC CACAGGGAGAAAGAAGCCACCATTTTCAGGAGAATGATCCCCAGAAGCAT GAGCAATGCAGATGTCGTGGCTTCACACAAGACGTCGGAGGGTCTTATTC CTGCAGCCGGGACCTGGGCATCGGTGTGCTTTCATGTTCCTAACTGATTT TGAGGGGAGCCCAATCGATAACCTGTCTGCGAGTCATGCTCATCACACTG TAGTTTTCACACACGTCACACGGAGACCCTGTTCGTATGCACATTTGGGT GCTTGAGCAGGGTTGCGCCCAAGATTCTGTGGTTCTACGGAGCCCTGAGT GGTGCCCTGGGCAGCTTTCCTCTGGGGTTGGTCAACTTTGATCACTGCAC CTAACGAGAAAGGGACCATGAAATCTAATCAGCAAATACAGACAAGCAAG GGGCCATTTCCCACAATCATTTCCACGGAAACACCACGTCGGATACGTAA GTCTGATTGCAGGACAGGGACTGTGCTTCAGAGATGCAGCTTTCGCAGCT GGACGAATGACCCGGAATCTCCCCAAATGCCATTTGTAAGCACACCAAAT GAGGTTTATTTCAGGGCTTTCTGAATTTATTTCAGTTGAATACACACACT CCTGTGTTTGATTTCCTTTATTATCAATACGACTTATTTCCAAATGACTG ACATGCCAGTGGGAAAATTTTCCATTTCGACTCATTGGAATTGGACATCG TGAAACAGGCAAGTCGGTCTGTCTGTTTCCGGCGTTATGTGGGTTCCAGC AAGAGCACAAGTCCCAGGGCGCCTGAGGTCCATTCAGAAACCAATGTAAA AACGGTGAGCCAGGGTAAGAAAGAAGAGCACCGTTCCTATCTTCTAAATG CATTCCAGTTTCCACTATTCAAGGTGGCGAGAATGATCCATGGATGTGCC ACATGAGCAAAATTTCACCTTCTCGTGCCGCCCAACAACTGACGAATGAA ACACACCCCAAGAGAAAATAGGAAACCGAGTCCCCTGCAATAACCTCACA CTCAAACCTACACGTCAGTAGGTCATATTCAGAAATACACAGTGAATGTC ATCTACCATGAACACAAACACACAGACAGTCTCTCCAGAGGTTCGGAAGA CTCACGACCCCAAAACTTGATGTTTCCCATGTGTGGGCTCATCCTGAGAT GCAGCCATCACTATCCAGTTGTCCCTGTTGTAGAGACAGAAACTTGGACT CCTCATTACTTTATGTAGGATTGACGGTGTTCGTGTTTGTGTGTGTGTGT GTGTTTGCGTGCGCGCTTGTGGGTGTATTTGTGCGTGTGTGTGTGTGCGT TCACCCCTACGTGTGGGTCGGCACTTCCACTGAGATCACTGGCACACAAG CAGAGCCCTCTTGCTGTGTTTGTTCTTCCCTTTGGATCTCCTGGTCCTCC CTTGCAGAGAAGCGAGGGTGCCAGTGTTCACGGACTCCTGATCTGTCCGG GTCGTCGAAGAGAGGTTTAGCAGGGAGCTTTGCTGTTCAGGATGATGGTT TTTCATCCCACACTTGTATTTCGATTGATGAATCACAAGTACGTTGGGAG GCAGGGTACCTTCGACTTTTCTGACGTTGAACTCAGGCTTCGTTTTGTTT TGCTCTTGGGGGAATTTCCAGTGGTCTAAGGTGCTTTCCTGAGTGGCTCT TTCCACCAAGCGCTCGTCCAACTCGGGTGCCTGGAGGCAGGGGTGGTCTC TCTTGAGCTCTCCTTGCGTTGCTCGCCTGTCTGTGTCTTCAGCGCCGAGG GCTCTTGGTTCCCTGCCTCTTGACACACTCTCACTGTGTCTTTCCCATTC ACTCTTCTGGATGTAAAAGAGGACATAGGCCTGTTGACTCAGGACAGAAG TGATGCTACAGGCAGTGACCTTGGCATCATCCATTTTATACCACTGGCCT TCTTGAGCTTTGACATAAGAGAAGTAATGTCCGTCGTGACAACTCCACCC AGCGTGGACCAGCACAGCATAGAGGACATAGACAAGAGGTCCTGTGTTCT GCTGAGACATGTATGGCTGCATGTCAAGGCACTCAGGATATTGCACATTC TTGGCAAGTTTGTTGCCTGTGACATCGGAGAATCTCTTCAAGACAAGGAT GAGGACCTTGGCAGAAGTGTGTAAAGTTAACGTCTTGGAGGCCGGCGCCC TCTGGAGACAAAGACCGCAATGATAGGCATTCTCTCCATTGAGTTCTTCG GGCTTCACCAACTGTTCCAAAGCTTGCTTGACACTCTGAGCTGCCTGGAT ATCCAGGGCGATGTCCAGGTAAGGGTCAAAAGTGTCTGAAATCCCGTGGC AGTGGAGACACTTGATTTGAGATCTCCAGCAGCCTCCAAATATTTGGTGG ATGAGGGTGGTGTCCTTAGAGTGATGATCTACCTGCTTGTGGCCGGGAAG GCATGCCTTTTTCATGGCATCCACAGTGAACATGAGAAATTCATGGGCAT CTTCCTGCTTGCCTCTATGGAAGCCAGCAGCCAATGCCTGTGAGGGCTGG ATGACATGACCAGGACTGTGGAGGGCCCATGTGATGTGAGCTTGCATAGT ACAGAGCATGCAGCACTTGGGACGCTGACATGTTTGAGAGTGCTCCCGGG ACAGCATGTAGTTGGCAAGGGGCGGTGTGTATGTCAGGCACTGCAGGGAA GCGTTCTCGTAGCAGGTATTTCCCATATTCTGGAGCCCAGCCCCCACCGC AGCAGGTCTCCTGCTACTCAGAGGAAGCTTCTTCCTGGGAGCAAGCTGTC TTGCCACAGGAGCCAAATCATCACAGAGGTCGACACGGGCCTCAGATGAG AGTGGTGACTTCTCAGGGAGAGAAGTCCGCTGGATTTCAGCAAAAGCTGC ATCTGGCCGAGAAGATGTGAGTTTTGAAAAGTGGTTGAACTGCCACTCAC CTCCCAAGTAGAGTGAGTCGTCCTCCATGTCGCCCGCAACAAGGATCACA AGGTTTTTCTGCTGGGACTGCAGGTTGCAGCAAGACGCTATCTCTTCCAA GAGAGTCTTCAAATGACGAGCTCTCTGGCCGCATCAGCCCTTATATAACT CACCCCCACCAACCGCGAACACCCCACCCACCCATCAGGTGTGCGATAAA CCAATCAAATATCAGCACTCAATTAAGGAATGAGTCACAGGGTGTGTCCC CTTGCATCGCTGGGAATTCAACAGACACAGCCCACATCATGACTTCTAGA ACACCTGAATCAAATTACTCCTCAGGGTGATAGGCACATATAATATGAGT GTAACCGGGTTGGGACAGTGGCCACACAGTTGCCTTATTTTAGGTAAAAG AATGTCAGGGAAGAAATCTTTACCTATGAAACCGTGTGTGTATCTCTCTG TGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGCTTGTGCT GGGATGAACTTCCAAGTATGTACTTTTGGCAGCTACCGTCATCCTCTCAT CGACGGAAGGACAAGAAGTCTGAAGTGCGCTTTCTGACCTGAGAATAGTC AATGAAGTATAGTATTTAGCACAGCGTATTTTCTTCCTTAATAATAAAGG AGATATCCGTGGCATCAAACAGACCTTCCAGGGATAACCTTTCCACGTTC AGCCTATTGACTCTCTATCCGAGTGAAATTACTGGCCAGTGGAGAACAAG ACAAGTCTTTGCATGAAATGCTCTTGTGGAAGCTAGGCTGCCAAATAATA AAGCATCAAATGGTAGAAACATGCACTGAAGTTTGAAGAGTTACTCAGTG CACAAAGTAGGCTGTGAAAGACTTTGGGGAAATCATGCAATCACCGAGAG ACTAATTGATGACATTCCCCAAATTTATGTGTGCCAGAAAAGAGAGATGG TCCTGACATTGTATAGTGAGTGGTTTCGGACGTGCGGCGGCAGTTTAAGA AAACTTGAAACAAAAAACTTGAGAAATCCAAAGGTATCCCAACTATAAGC TTTTGTTTATTAAAGAACTGATGAAAATAAAAACAACGTATCTCACAGCA TGGGTGATACTATTTCCATACTTACGTGATAATGGATCAACATTTCATAG AGATGAAATAAAAAGTTCTAATTTTGACAAAAGCAAACAAGGAAAATTAT ACCGTAGAAAAGCCCGGGTGACGGGAGTGAGGCCCTGTCTGAAGAAGAAA ACATCGGAGACGTTTAAAAGCAGTGAGTGAAACAGAGGG	A A	transcript_ablation transcript_ablation	HIGH	HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show HG02109.hp1 HG02145.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 NA18747.hp2 NA18966.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0000 a0002c0000t0000	a0002c0000t0000g0000 a0002c0000t0000g0000	16	194	0.0825	-4738	c.-12 others(11): Show c.-1261_*1884del	p.0? p.0?	USP17L2	ENSG00000223443.3	transcript	ENST00000333796.4	protein_coding	1/1					chr8	TogoVar
USP17L30_chr4_9358129_9369721	9364065	G G	T T	stop_gained stop_gained	HIGH	HG00673.hp1 HG01081.hp2 HG01243.hp1 others(27): Show HG00673.hp1 HG01081.hp2 HG01243.hp1 HG01515.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02523.hp1 HG02738.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 NA18941.hp1 NA18952.hp1 NA18955.hp1 NA18971.hp1 NA18979.hp1 NA19004.hp1 NA19062.hp1 NA19064.hp1 NA19075.hp1	a0004 a0005 a0009 others(1): Show a0004 a0005 a0009 a0016	a0004c0008 a0004c0020 a0004c0030 others(6): Show a0004c0008 a0004c0020 a0004c0030 a0005c0007 a0005c0029 a0005c0031 a0009c0017 a0009c0045 a0016c0019	a0004c0008t0001 a0004c0020t0001 a0004c0030t0001 others(6): Show a0004c0008t0001 a0004c0020t0001 a0004c0030t0001 a0005c0007t0001 a0005c0029t0001 a0005c0031t0001 a0009c0017t0001 a0009c0045t0001 a0016c0019t0001	a0004c0008t0001g0000 a0004c0020t0001g0000 a0004c0030t0001g0000 others(6): Show a0004c0008t0001g0000 a0004c0020t0001g0000 a0004c0030t0001g0000 a0005c0007t0001g0000 a0005c0029t0001g0000 a0005c0031t0001g0000 a0009c0017t0001g0000 a0009c0045t0001g0000 a0016c0019t0001g0000	30	330	0.0909	0	c.937 others(3): Show c.937G>T	p.Gly others(4): Show p.Gly313*	USP17L30	ENSG00000228856.3	transcript	ENST00000504104.1	protein_coding	1/1	937/1593	937/1593	313/530		chr4	TogoVar
USP29_chr19_57114985_57136926	57131414	C C	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 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.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 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.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 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 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0005 others(23): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0021 a0001c0023 a0001c0028 a0002c0002 a0002c0026 a0003c0004 a0005c0010 a0006c0009 a0007c0008 a0008c0012 a0009c0011 a0010c0013 a0011c0016 a0013c0027 a0014c0020 a0015c0018 a0016c0015 a0017c0022 a0018c0024 a0019c0025 a0020c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0005t0001 a0001c0007t0004 a0001c0019t0001 a0001c0021t0008 a0001c0023t0004 a0001c0028t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0026t0002 a0003c0004t0003 a0003c0004t0006 a0005c0010t0001 a0006c0009t0001 a0007c0008t0002 a0008c0012t0003 a0009c0011t0003 a0010c0013t0001 a0011c0016t0002 a0013c0027t0004 a0014c0020t0001 a0015c0018t0012 a0016c0015t0003 a0017c0022t0001 a0018c0024t0001 a0019c0025t0001 a0020c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0193 a0001c0001t0002g0002 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0013g0002 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0002g0016 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0004g0008 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0023 a0001c0003t0004g0029 a0001c0003t0004g0055 a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0147 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0179 a0001c0003t0004g0200 a0001c0003t0005g0024 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0067 a0001c0003t0005g0068 a0001c0003t0005g0075 a0001c0003t0007g0018 a0001c0003t0007g0069 a0001c0003t0008g0045 a0001c0003t0008g0099 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0013 a0001c0005t0001g0021 a0001c0007t0004g0029 a0001c0007t0004g0148 a0001c0019t0001g0012 a0001c0021t0008g0100 a0001c0023t0004g0017 a0001c0028t0001g0021 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0175 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0009g0011 a0002c0002t0009g0031 a0002c0002t0010g0058 a0002c0002t0011g0162 a0002c0026t0002g0180 a0003c0004t0003g0003 a0003c0004t0003g0007 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0019 a0003c0004t0003g0025 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0070 a0003c0004t0003g0072 a0003c0004t0003g0073 a0003c0004t0003g0074 a0003c0004t0003g0076 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0006g0003 a0003c0004t0006g0009 a0003c0004t0006g0010 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0020 a0006c0009t0001g0026 a0007c0008t0002g0066 a0007c0008t0002g0199 a0008c0012t0003g0007 a0009c0011t0003g0041 a0010c0013t0001g0001 a0011c0016t0002g0201 a0013c0027t0004g0014 a0014c0020t0001g0004 a0015c0018t0012g0197 a0016c0015t0003g0007 a0017c0022t0001g0071 a0018c0024t0001g0131 a0019c0025t0001g0027 a0020c0017t0002g0176	406	414	0.9807	0	c.273 others(4): Show c.2739C>A	p.Tyr others(4): Show p.Tyr913*	USP29	ENSG00000131864.11	transcript	ENST00000254181.9	protein_coding	4/4	3251/3763	2739/2769	913/922		chr19	TogoVar
VCX3A_chrX_6528618_6540118	6534957	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01106.hp1 HG02109.hp1 HG02886.hp1 others(1): Show HG01106.hp1 HG02109.hp1 HG02886.hp1 NA19240.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0011c0011	a0001c0001t0001 a0001c0002t0016 a0003c0005t0002 others(1): Show a0001c0001t0001 a0001c0002t0016 a0003c0005t0002 a0011c0011t0012	a0001c0001t0001g0014 a0001c0002t0016g0048 a0003c0005t0002g0013 others(1): Show a0001c0001t0001g0014 a0001c0002t0016g0048 a0003c0005t0002g0013 a0011c0011t0012g0012	4	72	0.0556	0	c.-14 others(6): Show c.-147+1G>A		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding	1/2					chrX	TogoVar
VDR_chr12_47836537_47909994	47879112	A A	G G	start_lost start_lost	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(67): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0017 a0001c0003t0018 a0001c0003t0024 a0001c0003t0030 a0001c0003t0036 a0001c0003t0041 a0001c0003t0043 a0001c0003t0048 a0001c0003t0065 a0001c0006t0026 a0001c0007t0012 a0001c0008t0002 a0001c0008t0010 a0001c0009t0014 a0001c0009t0061 a0001c0011t0049 a0001c0012t0001 a0001c0013t0042 a0001c0014t0025 a0001c0015t0011 a0001c0016t0025	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0065 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0170 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0201 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0254 a0001c0001t0003g0265 a0001c0001t0004g0027 a0001c0001t0004g0038 a0001c0001t0004g0067 a0001c0001t0004g0080 a0001c0001t0004g0090 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0163 a0001c0001t0004g0169 a0001c0001t0004g0232 a0001c0001t0004g0264 a0001c0001t0004g0283 a0001c0001t0004g0291 a0001c0001t0004g0322 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0005g0079 a0001c0001t0005g0091 a0001c0001t0005g0110 a0001c0001t0005g0134 a0001c0001t0005g0141 a0001c0001t0005g0166 a0001c0001t0005g0243 a0001c0001t0005g0259 a0001c0001t0005g0313 a0001c0001t0006g0011 a0001c0001t0006g0015 a0001c0001t0006g0116 a0001c0001t0006g0149 a0001c0001t0006g0154 a0001c0001t0006g0196 a0001c0001t0006g0209 a0001c0001t0006g0220 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0251 a0001c0001t0006g0308 a0001c0001t0007g0043 a0001c0001t0007g0074 a0001c0001t0007g0087 a0001c0001t0007g0128 a0001c0001t0007g0171 a0001c0001t0007g0200 a0001c0001t0007g0233 a0001c0001t0008g0271 a0001c0001t0008g0277 a0001c0001t0008g0328 a0001c0001t0008g0338 a0001c0001t0009g0343 a0001c0001t0009g0350 a0001c0001t0011g0054 a0001c0001t0011g0211 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0013g0007 a0001c0001t0013g0112 a0001c0001t0013g0260 a0001c0001t0013g0300 a0001c0001t0014g0032 a0001c0001t0014g0316 a0001c0001t0015g0327 a0001c0001t0015g0335 a0001c0001t0016g0026 a0001c0001t0016g0341 a0001c0001t0017g0055 a0001c0001t0017g0349 a0001c0001t0019g0133 a0001c0001t0019g0199 a0001c0001t0020g0107 a0001c0001t0021g0044 a0001c0001t0021g0078 a0001c0001t0022g0033 a0001c0001t0022g0034 a0001c0001t0022g0295 a0001c0001t0023g0002 a0001c0001t0027g0004 a0001c0001t0028g0280 a0001c0001t0028g0299 a0001c0001t0029g0047 a0001c0001t0029g0317 a0001c0001t0032g0290 a0001c0001t0033g0276 a0001c0001t0034g0351 a0001c0001t0035g0324 a0001c0001t0037g0208 a0001c0001t0038g0180 a0001c0001t0039g0025 a0001c0001t0044g0257 a0001c0001t0045g0348 a0001c0001t0046g0206 a0001c0001t0051g0286 a0001c0001t0052g0294 a0001c0001t0054g0159 a0001c0001t0055g0293 a0001c0001t0056g0285 a0001c0001t0058g0036 a0001c0001t0059g0241 a0001c0001t0062g0189 a0001c0001t0063g0235 a0001c0001t0064g0336 a0001c0001t0067g0204 a0001c0001t0068g0334 a0001c0001t0069g0194 a0001c0003t0002g0009 a0001c0003t0002g0021 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0040 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0075 a0001c0003t0002g0081 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0093 a0001c0003t0002g0132 a0001c0003t0002g0143 a0001c0003t0002g0148 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0195 a0001c0003t0002g0219 a0001c0003t0002g0226 a0001c0003t0002g0229 a0001c0003t0002g0237 a0001c0003t0002g0244 a0001c0003t0002g0248 a0001c0003t0002g0287 a0001c0003t0002g0296 a0001c0003t0002g0319 a0001c0003t0002g0340 a0001c0003t0002g0344 a0001c0003t0002g0345 a0001c0003t0007g0181 a0001c0003t0009g0056 a0001c0003t0009g0120 a0001c0003t0009g0183 a0001c0003t0009g0193 a0001c0003t0010g0210 a0001c0003t0010g0249 a0001c0003t0010g0331 a0001c0003t0017g0329 a0001c0003t0018g0010 a0001c0003t0018g0256 a0001c0003t0024g0053 a0001c0003t0024g0304 a0001c0003t0030g0332 a0001c0003t0036g0072 a0001c0003t0041g0314 a0001c0003t0043g0297 a0001c0003t0048g0070 a0001c0003t0065g0333 a0001c0006t0026g0121 a0001c0006t0026g0354 a0001c0007t0012g0105 a0001c0007t0012g0106 a0001c0008t0002g0330 a0001c0008t0010g0279 a0001c0009t0014g0281 a0001c0009t0061g0305 a0001c0011t0049g0046 a0001c0012t0001g0311 a0001c0013t0042g0039 a0001c0014t0025g0323 a0001c0015t0011g0214 a0001c0016t0025g0030	239	356	0.6713	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	3/10	125/4616	2/1284	1/427		chr12	TogoVar
VIPAS39_chr14_77421675_77462601	77451285	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00741.hp2 HG02109.hp2 HG02615.hp1 others(1): Show HG00741.hp2 HG02109.hp2 HG02615.hp1 HG03710.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0082 others(1): Show a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0082 a0002c0004t0001g0103	4	241	0.0166	1	c.244 others(8): Show c.244_245insG	p.His others(4): Show p.His82fs	VIPAS39	ENSG00000151445.16	transcript	ENST00000557658.6	protein_coding	4/20	351/2530	244/1482	82/493		chr14	TogoVar
XNDC1N_chr11_71875704_71933594	71884595	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG01074.hp1 HG02109.hp1 HG02258.hp2 others(15): Show HG01074.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 NA19030.hp2 NA19240.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0004 a0004c0008 others(1): Show a0002c0003 a0003c0004 a0004c0008 a0004c0010	a0002c0003t0005 a0002c0003t0021 a0003c0004t0008 others(3): Show a0002c0003t0005 a0002c0003t0021 a0003c0004t0008 a0003c0004t0016 a0004c0008t0005 a0004c0010t0020	a0002c0003t0005g0027 a0002c0003t0005g0249 a0002c0003t0005g0250 others(14): Show a0002c0003t0005g0027 a0002c0003t0005g0249 a0002c0003t0005g0250 a0002c0003t0005g0251 a0002c0003t0005g0252 a0002c0003t0005g0254 a0002c0003t0005g0256 a0002c0003t0021g0253 a0003c0004t0008g0260 a0003c0004t0008g0261 a0003c0004t0008g0262 a0003c0004t0008g0263 a0003c0004t0008g0264 a0003c0004t0016g0258 a0003c0004t0016g0259 a0004c0008t0005g0255 a0004c0010t0020g0274	18	336	0.0536	1	c.548 others(4): Show c.548dupT	p.Ser others(5): Show p.Ser184fs	XNDC1N	ENSG00000254469.11	transcript	ENST00000679412.2	protein_coding	6/6	900/4792	548/705	183/234		chr11	TogoVar
YEATS2_chr3_183692797_183817624	183772310	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG01109.hp1 HG01175.hp1 others(7): Show HG00621.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp2 NA18948.hp2 NA18972.hp2	a0004 a0010 a0014 a0004 a0010 a0014	a0004c0012 a0004c0014 a0004c0023 others(2): Show a0004c0012 a0004c0014 a0004c0023 a0010c0013 a0014c0031	a0004c0012t0001 a0004c0014t0001 a0004c0023t0001 others(2): Show a0004c0012t0001 a0004c0014t0001 a0004c0023t0001 a0010c0013t0002 a0014c0031t0011	a0004c0012t0001g0034 a0004c0012t0001g0100 a0004c0012t0001g0121 others(7): Show a0004c0012t0001g0034 a0004c0012t0001g0100 a0004c0012t0001g0121 a0004c0012t0001g0131 a0004c0014t0001g0018 a0004c0014t0001g0020 a0004c0023t0001g0127 a0010c0013t0002g0287 a0010c0013t0002g0291 a0014c0031t0011g0134	10	308	0.0325	1	c.195 others(5): Show c.1957dupG	p.Val others(5): Show p.Val653fs	YEATS2	ENSG00000163872.16	transcript	ENST00000305135.10	protein_coding	16/31	2174/6526	1958/4269	653/1422	INFO_REALIGN_3_PRIME	chr3	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	100779751	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(77): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19090.hp2 NA20805.hp1 NA20805.hp2	a0003 a0004 a0008 others(10): Show a0003 a0004 a0008 a0015 a0019 a0023 a0028 a0030 a0041 a0042 a0044 a0045 a0047	a0003c0002 a0003c0095 a0003c0098 others(15): Show a0003c0002 a0003c0095 a0003c0098 a0003c0104 a0004c0004 a0004c0044 a0008c0008 a0015c0014 a0019c0021 a0023c0063 a0023c0090 a0028c0060 a0030c0083 a0041c0058 a0042c0087 a0044c0053 a0045c0054 a0047c0067	a0003c0002t0002 a0003c0095t0002 a0003c0098t0002 others(15): Show a0003c0002t0002 a0003c0095t0002 a0003c0098t0002 a0003c0104t0002 a0004c0004t0001 a0004c0044t0001 a0008c0008t0001 a0015c0014t0001 a0019c0021t0002 a0023c0063t0001 a0023c0090t0001 a0028c0060t0001 a0030c0083t0001 a0041c0058t0001 a0042c0087t0001 a0044c0053t0001 a0045c0054t0001 a0047c0067t0001	a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(76): Show a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 a0003c0002t0002g0006 a0003c0002t0002g0007 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0011 a0003c0002t0002g0012 a0003c0002t0002g0013 a0003c0002t0002g0014 a0003c0002t0002g0016 a0003c0002t0002g0017 a0003c0002t0002g0018 a0003c0002t0002g0019 a0003c0002t0002g0020 a0003c0002t0002g0021 a0003c0002t0002g0022 a0003c0002t0002g0023 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0026 a0003c0002t0002g0028 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0049 a0003c0002t0002g0050 a0003c0095t0002g0046 a0003c0098t0002g0015 a0003c0104t0002g0004 a0004c0004t0001g0066 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0072 a0004c0004t0001g0073 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0273 a0004c0044t0001g0075 a0008c0008t0001g0074 a0008c0008t0001g0114 a0008c0008t0001g0115 a0008c0008t0001g0116 a0008c0008t0001g0123 a0008c0008t0001g0143 a0008c0008t0001g0169 a0008c0008t0001g0178 a0015c0014t0001g0112 a0015c0014t0001g0118 a0015c0014t0001g0149 a0019c0021t0002g0031 a0019c0021t0002g0032 a0019c0021t0002g0036 a0023c0063t0001g0302 a0023c0090t0001g0253 a0028c0060t0001g0125 a0030c0083t0001g0052 a0041c0058t0001g0148 a0042c0087t0001g0245 a0044c0053t0001g0303 a0045c0054t0001g0059 a0047c0067t0001g0122	80	306	0.2614	0	c.662 others(6): Show c.6622+1G>A		ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	35/47					chr7	TogoVar
ZC2HC1A_chr8_78661089_78724765	78686431	G G	GTTTATTT others(1): Show GTTTATTTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG02109.hp1 HG04228.hp2 HG01891.hp1 HG02109.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0193 a0001c0002t0002g0033 a0001c0002t0002g0193	3	33	0.0909	8	c.211 others(20): Show c.211-10_211-3dupTTATTTAT		ZC2HC1A	ENSG00000104427.13	transcript	ENST00000263849.9	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr8	TogoVar
ZC3H12B_chrX_65029826_65512887	65497128	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0131 others(55): Show a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0014 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0141 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0143 a0001c0001t0007g0008 a0001c0001t0007g0011 a0001c0001t0008g0109 a0001c0001t0010g0162 a0001c0001t0012g0128 a0001c0001t0013g0007 a0001c0001t0014g0005 a0001c0001t0015g0144 a0001c0001t0016g0129 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0154 a0001c0002t0002g0155	58	165	0.3515	1	c.609 others(6): Show c.609-2dupA		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	6/9				INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC11B_chr5_705355_789729	766918	A A	C C	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0012c0049	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(77): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0030 a0001c0001t0034 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0059 a0001c0002t0004 a0001c0002t0006 a0001c0002t0022 a0001c0002t0036 a0001c0002t0051 a0001c0002t0054 a0001c0003t0003 a0001c0003t0006 a0001c0003t0010 a0001c0003t0015 a0001c0003t0025 a0001c0003t0030 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0011 a0001c0004t0025 a0001c0004t0041 a0001c0004t0043 a0001c0005t0001 a0001c0005t0012 a0001c0005t0015 a0001c0005t0020 a0001c0008t0002 a0001c0009t0021 a0001c0009t0026 a0001c0009t0035 a0001c0010t0016 a0001c0010t0056 a0001c0011t0014 a0001c0013t0011 a0001c0013t0014 a0001c0014t0029 a0001c0014t0031 a0001c0014t0060 a0001c0015t0002 a0001c0015t0011 a0001c0016t0024 a0001c0016t0031 a0001c0020t0033 a0001c0021t0001 a0001c0021t0046 a0001c0022t0042 a0001c0022t0057 a0001c0023t0032 a0001c0024t0019 a0001c0025t0018 a0001c0029t0015 a0001c0030t0019 a0001c0031t0010 a0001c0032t0010 a0001c0033t0050 a0001c0034t0004 a0001c0035t0058 a0001c0036t0016 a0001c0037t0010 a0001c0038t0034 a0001c0039t0052 a0001c0040t0002 a0001c0041t0004 a0001c0042t0015 a0001c0043t0040 a0001c0044t0001 a0001c0045t0024 a0001c0046t0018 a0001c0047t0018 a0001c0048t0018 a0012c0049t0053	a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 others(207): Show a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0167 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0258 a0001c0001t0012g0007 a0001c0001t0012g0014 a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0001t0015g0264 a0001c0001t0020g0065 a0001c0001t0020g0072 a0001c0001t0023g0104 a0001c0001t0023g0105 a0001c0001t0023g0137 a0001c0001t0030g0057 a0001c0001t0034g0211 a0001c0001t0047g0055 a0001c0001t0048g0103 a0001c0001t0049g0142 a0001c0001t0059g0212 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0220 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0239 a0001c0002t0004g0242 a0001c0002t0004g0265 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0073 a0001c0002t0006g0092 a0001c0002t0006g0099 a0001c0002t0006g0114 a0001c0002t0006g0115 a0001c0002t0006g0140 a0001c0002t0006g0166 a0001c0002t0022g0085 a0001c0002t0022g0086 a0001c0002t0022g0152 a0001c0002t0036g0012 a0001c0002t0051g0229 a0001c0002t0054g0244 a0001c0003t0003g0001 a0001c0003t0003g0056 a0001c0003t0003g0063 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0083 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0093 a0001c0003t0003g0141 a0001c0003t0003g0153 a0001c0003t0006g0077 a0001c0003t0006g0082 a0001c0003t0010g0213 a0001c0003t0010g0247 a0001c0003t0010g0256 a0001c0003t0010g0262 a0001c0003t0010g0263 a0001c0003t0015g0246 a0001c0003t0025g0013 a0001c0003t0030g0098 a0001c0004t0002g0009 a0001c0004t0002g0019 a0001c0004t0002g0027 a0001c0004t0002g0036 a0001c0004t0002g0037 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0042 a0001c0004t0002g0045 a0001c0004t0002g0049 a0001c0004t0003g0150 a0001c0004t0006g0081 a0001c0004t0011g0053 a0001c0004t0011g0165 a0001c0004t0025g0048 a0001c0004t0041g0011 a0001c0004t0043g0068 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0100 a0001c0005t0001g0106 a0001c0005t0001g0112 a0001c0005t0001g0126 a0001c0005t0001g0127 a0001c0005t0001g0130 a0001c0005t0001g0139 a0001c0005t0012g0046 a0001c0005t0012g0047 a0001c0005t0015g0233 a0001c0005t0015g0234 a0001c0005t0020g0074 a0001c0008t0002g0020 a0001c0008t0002g0021 a0001c0008t0002g0022 a0001c0008t0002g0023 a0001c0008t0002g0024 a0001c0008t0002g0025 a0001c0008t0002g0050 a0001c0009t0021g0154 a0001c0009t0021g0170 a0001c0009t0021g0171 a0001c0009t0026g0032 a0001c0009t0026g0033 a0001c0009t0035g0026 a0001c0010t0016g0199 a0001c0010t0016g0200 a0001c0010t0016g0202 a0001c0010t0016g0203 a0001c0010t0016g0205 a0001c0010t0056g0206 a0001c0011t0014g0091 a0001c0011t0014g0143 a0001c0011t0014g0144 a0001c0011t0014g0145 a0001c0011t0014g0146 a0001c0013t0011g0002 a0001c0013t0011g0109 a0001c0013t0014g0090 a0001c0014t0029g0043 a0001c0014t0029g0044 a0001c0014t0031g0122 a0001c0014t0060g0241 a0001c0015t0002g0034 a0001c0015t0011g0005 a0001c0016t0024g0201 a0001c0016t0024g0210 a0001c0016t0031g0172 a0001c0020t0033g0006 a0001c0021t0001g0133 a0001c0021t0046g0149 a0001c0022t0042g0168 a0001c0022t0057g0238 a0001c0023t0032g0249 a0001c0023t0032g0250 a0001c0024t0019g0131 a0001c0024t0019g0132 a0001c0025t0018g0195 a0001c0025t0018g0197 a0001c0029t0015g0240 a0001c0030t0019g0151 a0001c0031t0010g0257 a0001c0032t0010g0259 a0001c0033t0050g0194 a0001c0034t0004g0219 a0001c0035t0058g0235 a0001c0036t0016g0248 a0001c0037t0010g0260 a0001c0038t0034g0255 a0001c0039t0052g0207 a0001c0040t0002g0018 a0001c0041t0004g0243 a0001c0042t0015g0209 a0001c0043t0040g0015 a0001c0044t0001g0169 a0001c0045t0024g0208 a0001c0046t0018g0196 a0001c0047t0018g0204 a0001c0048t0018g0198 a0012c0049t0053g0245	215	270	0.7963	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	4/14	293/3342	2/1116	1/371		chr5	TogoVar
ZFHX4_chr8_76676247_76872281	76853081	CCT CCT	C C	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG01081.hp1 HG01175.hp1 others(17): Show HG00621.hp2 HG01081.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02615.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03669.hp2 HG04115.hp2 NA18964.hp2 NA18968.hp1 NA18992.hp2 NA19011.hp2 NA19240.hp2	a0004 a0025 a0004 a0025	a0004c0010 a0004c0012 a0004c0015 others(5): Show a0004c0010 a0004c0012 a0004c0015 a0004c0024 a0004c0043 a0004c0057 a0004c0063 a0025c0062	a0004c0010t0001 a0004c0010t0006 a0004c0012t0004 others(7): Show a0004c0010t0001 a0004c0010t0006 a0004c0012t0004 a0004c0015t0001 a0004c0015t0008 a0004c0024t0001 a0004c0043t0001 a0004c0057t0001 a0004c0063t0008 a0025c0062t0004	a0004c0010t0001g0009 a0004c0010t0001g0029 a0004c0010t0001g0059 others(17): Show a0004c0010t0001g0009 a0004c0010t0001g0029 a0004c0010t0001g0059 a0004c0010t0001g0165 a0004c0010t0006g0169 a0004c0012t0004g0114 a0004c0012t0004g0115 a0004c0012t0004g0120 a0004c0012t0004g0141 a0004c0012t0004g0226 a0004c0015t0001g0095 a0004c0015t0001g0105 a0004c0015t0001g0240 a0004c0015t0008g0103 a0004c0024t0001g0172 a0004c0024t0001g0176 a0004c0043t0001g0023 a0004c0057t0001g0134 a0004c0063t0008g0110 a0025c0062t0004g0143	20	242	0.0826	-2	c.616 others(11): Show c.6162_6163delTC	p.Pro others(6): Show p.Pro2057fs	ZFHX4	ENSG00000091656.19	transcript	ENST00000651372.2	protein_coding	10/11	6582/13987	6162/10851	2054/3616	INFO_REALIGN_3_PRIME	chr8	TogoVar
ZIC5_chr13_99957964_99976767	99971172	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp2 NA18952.hp2 NA18959.hp1 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19012.hp2 NA19063.hp1 NA19063.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0003 a0008 a0018 a0003 a0008 a0018	a0003c0003 a0003c0004 a0003c0020 others(9): Show a0003c0003 a0003c0004 a0003c0020 a0003c0024 a0003c0025 a0003c0026 a0003c0027 a0003c0028 a0003c0036 a0008c0013 a0008c0019 a0018c0022	a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 others(29): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0012 a0003c0003t0014 a0003c0003t0018 a0003c0003t0033 a0003c0003t0045 a0003c0004t0002 a0003c0004t0008 a0003c0004t0009 a0003c0004t0010 a0003c0004t0011 a0003c0004t0021 a0003c0004t0024 a0003c0004t0030 a0003c0004t0038 a0003c0004t0042 a0003c0004t0052 a0003c0020t0049 a0003c0024t0005 a0003c0025t0051 a0003c0026t0005 a0003c0027t0015 a0003c0028t0019 a0003c0036t0008 a0008c0013t0001 a0008c0013t0005 a0008c0019t0022 a0018c0022t0003	a0003c0003t0001g0003 a0003c0003t0001g0080 a0003c0003t0003g0035 others(34): Show a0003c0003t0001g0003 a0003c0003t0001g0080 a0003c0003t0003g0035 a0003c0003t0004g0036 a0003c0003t0005g0076 a0003c0003t0005g0077 a0003c0003t0006g0023 a0003c0003t0006g0082 a0003c0003t0012g0079 a0003c0003t0014g0081 a0003c0003t0018g0047 a0003c0003t0033g0075 a0003c0003t0045g0078 a0003c0004t0002g0014 a0003c0004t0002g0069 a0003c0004t0002g0071 a0003c0004t0008g0066 a0003c0004t0009g0034 a0003c0004t0010g0068 a0003c0004t0011g0074 a0003c0004t0021g0073 a0003c0004t0024g0070 a0003c0004t0030g0072 a0003c0004t0038g0064 a0003c0004t0042g0065 a0003c0004t0052g0067 a0003c0020t0049g0057 a0003c0024t0005g0061 a0003c0025t0051g0062 a0003c0026t0005g0063 a0003c0027t0015g0083 a0003c0028t0019g0084 a0003c0036t0008g0149 a0008c0013t0001g0021 a0008c0013t0005g0053 a0008c0019t0022g0054 a0018c0022t0003g0059	64	406	0.1576	1	c.431 others(4): Show c.431dupC	p.Pro others(5): Show p.Pro145fs	ZIC5	ENSG00000139800.9	transcript	ENST00000267294.5	protein_coding	1/2	595/4497	431/1920	144/639		chr13	TogoVar
ZMYND12_chr1_42425329_42461022	42455996	A A	T T	start_lost start_lost	HIGH	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0041 a0005c0006t0001g0041	1	388	0.0026	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	ZMYND12	ENSG00000066185.13	transcript	ENST00000372565.8	protein_coding	1/8	27/1530	2/1098	1/365		chr1	TogoVar
ZNF117_chr7_64966772_64996036	64978289	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0007 a0002c0002 others(6): Show a0001c0001 a0001c0007 a0002c0002 a0002c0009 a0007c0008 a0008c0010 a0009c0011 a0010c0013 a0011c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0007t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0019 a0002c0002t0020 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0061 a0002c0009t0002 a0007c0008t0002 a0008c0010t0033 a0009c0011t0035 a0010c0013t0001 a0011c0012t0003	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0003g0003 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0006g0005 a0001c0001t0006g0016 a0001c0001t0006g0063 a0001c0001t0006g0081 a0001c0001t0006g0083 a0001c0001t0010g0021 a0001c0001t0010g0051 a0001c0001t0011g0017 a0001c0001t0012g0014 a0001c0001t0013g0015 a0001c0001t0016g0026 a0001c0001t0017g0024 a0001c0001t0021g0031 a0001c0001t0022g0032 a0001c0001t0029g0050 a0001c0001t0030g0052 a0001c0001t0031g0093 a0001c0001t0032g0086 a0001c0001t0034g0066 a0001c0001t0036g0067 a0001c0001t0037g0090 a0001c0001t0039g0062 a0001c0001t0040g0068 a0001c0001t0041g0069 a0001c0001t0042g0070 a0001c0001t0043g0059 a0001c0001t0044g0071 a0001c0001t0045g0072 a0001c0001t0046g0073 a0001c0007t0001g0075 a0001c0007t0001g0076 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0110 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0005g0006 a0002c0002t0005g0028 a0002c0002t0005g0038 a0002c0002t0005g0039 a0002c0002t0005g0040 a0002c0002t0005g0109 a0002c0002t0005g0111 a0002c0002t0005g0112 a0002c0002t0005g0115 a0002c0002t0005g0116 a0002c0002t0005g0118 a0002c0002t0005g0119 a0002c0002t0005g0120 a0002c0002t0005g0148 a0002c0002t0008g0019 a0002c0002t0008g0147 a0002c0002t0019g0029 a0002c0002t0020g0046 a0002c0002t0020g0136 a0002c0002t0023g0041 a0002c0002t0024g0128 a0002c0002t0024g0134 a0002c0002t0025g0044 a0002c0002t0026g0045 a0002c0002t0049g0108 a0002c0002t0050g0125 a0002c0002t0051g0127 a0002c0002t0052g0129 a0002c0002t0053g0130 a0002c0002t0054g0123 a0002c0002t0055g0149 a0002c0002t0056g0150 a0002c0002t0057g0113 a0002c0002t0058g0117 a0002c0002t0059g0114 a0002c0002t0060g0133 a0002c0002t0061g0155 a0002c0009t0002g0126 a0007c0008t0002g0151 a0008c0010t0033g0065 a0009c0011t0035g0092 a0010c0013t0001g0074 a0011c0012t0003g0091	378	442	0.8552	0	c.128 others(4): Show c.1282C>T	p.Arg others(4): Show p.Arg428*	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding	4/4	2567/9084	1282/1452	428/483		chr7	TogoVar
ZNF233_chr19_44254886_44280317	44274642	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00544.hp1 HG00597.hp1 others(136): Show HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18971.hp1 NA18973.hp1 NA18976.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0003 a0002c0004 a0004c0005 others(2): Show a0002c0003 a0002c0004 a0004c0005 a0005c0006 a0006c0008	a0002c0003t0001 a0002c0004t0001 a0004c0005t0001 others(2): Show a0002c0003t0001 a0002c0004t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0001	a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0008 others(87): Show a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0008 a0002c0003t0001g0016 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0046 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0180 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0206 a0002c0003t0001g0209 a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0045 a0002c0004t0001g0053 a0002c0004t0001g0061 a0002c0004t0001g0062 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0166 a0002c0004t0001g0168 a0002c0004t0001g0169 a0002c0004t0001g0170 a0002c0004t0001g0177 a0002c0004t0001g0178 a0002c0004t0001g0179 a0002c0004t0001g0199 a0002c0004t0001g0204 a0002c0004t0001g0205 a0004c0005t0001g0036 a0004c0005t0001g0063 a0004c0005t0001g0126 a0004c0005t0001g0142 a0004c0005t0001g0143 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0207 a0005c0006t0001g0037 a0005c0006t0001g0134 a0005c0006t0001g0135 a0005c0006t0001g0194 a0006c0008t0001g0037 a0006c0008t0001g0136 a0006c0008t0001g0147	139	406	0.3424	-1	c.198 others(5): Show c.1983delG	p.Leu others(5): Show p.Leu662fs	ZNF233	ENSG00000159915.13	transcript	ENST00000683810.1	protein_coding	5/5	2083/2757	1983/2013	661/670		chr19	TogoVar
ZNF404_chr19_43867365_43888964	43873778	G G	GGTGCAAA others(1883): Show GGTGCAAATATTTTCTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTG ATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGAC AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT TTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGAT TACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCA AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACC CTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGT CACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACA AAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCA TCCGATTTCTCAATCTTTTCCCCACCTTTCCTGCCTTTCTATTCCACAAA GCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTC CCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCCGGCAGAGGCGCCCCTCACCTCCCGGAT GGGACGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGCACGGCTGGCCGGTCGGGGGGGCTGACCCCCCACTTCCCTCCCAGATG GGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCCACCTCCCTCCCGGAC GGGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGATGGGGTGGCTG CCGGGCAGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCAGAG GGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCA CTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGG GTCTCGGCTGGGCAGAGGCACTCCTCACATCCCAGATGGGGCGGCGGGGC AGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCC TCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAG CCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGA GGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTC GGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGA GCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGT GAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCTGAGGTTGGCG GGATCACTCGCGGTTAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAA CCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATGG CAGGCACTGGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTG AGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCAT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02109.hp1 HG02280.hp2 HG02559.hp2 others(8): Show HG02109.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03579.hp1 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0010 a0003c0003t0003g0027 a0003c0003t0003g0068 others(2): Show a0003c0003t0003g0010 a0003c0003t0003g0027 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0071	11	373	0.0295	1890	c.435 others(1897): Show c.435_436insATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCG GCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCCAGTGC CTGCCATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAGACG GGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTAACCGCGAGTGA TCCCGCCAACCTCAGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCACTACAACCTACACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGT GCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGA GCCTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCC TGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCC ATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAG TGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCC TCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGA GACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAG AAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAG CCCCTCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCTGCC CGGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAACCCCCCGCCCGGCCAGCCG CCCCATCTGGGAGGGAAGTGGGGGGTCAGCCCCCCCGACCGGCCAGCCGT GCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGAGTCAGCCCCCCCGCCCGGCCAGCCGT CCCATCCGGGAGGTGAGGGGCGCCTCTGCCGGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTC TGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGC GGCTTTGTGGAATAGAAAGGCAGGAAAGGTGGGGAAAAGATTGAGAAATC GGATGGTTGCTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCA TTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCT GTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACT CAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGAT GCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAA GTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGG AAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACT ATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAAT TATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAGAAAATATTTGC AC	p.His others(1903): Show p.His145_Leu146insMetArgSerArgSerTrpThrValLeuLeuPr oSerArgLeuThrAlaThrSerLeuProAspSerProAlaSerAlaCysP roValProAlaIleAlaGlyThrArgArgHisAlaTerLeuValLeuVal GluThrGlyPheArgCysValGlyArgAlaGlyLeuGlnProLeuThrAl aSerAspProAlaAsnLeuSerLeuProArgCysArgAspCysArgArgS erLeuValHisSerValLeuAsnGlyAlaGlnAlaGlyValGlnTrpArg AspLeuGlySerLeuGlnProThrProProSerArgLeuProTrpProPr oLysValProArgLeuGlnProLeuProGlyArgHisProValTrpGluV alArgSerLeuSerAlaTrpProProIleValTrpAspValArgSerPro SerAlaTrpLeuProSerLeuGluSerGluGluArgLeuArgProAlaAl aIleProSerArgLysTerGlyAlaProLeuProSerArgHisHisIleT erGluValArgSerValSerAlaArgProProIleValTerAspValGly SerAlaSerAlaProProProHisLeuGlyCysGluGluCysLeuCysPr oAlaGluThrProSerGlyArgTerGlyAlaSerLeuProGlyArgProV alTerGluValArgArgProSerAlaTrpGlnProProArgLeuArgSer GluGluProLeuCysProAlaAlaAlaProSerGluLysTerGlyAlaSe rLeuProGlySerHisProIleTrpGluValArgSerIleSerAlaArgG lnProProArgProGlyGlyArgTrpGlyGlyValAsnProProProGly GlnProProHisLeuGlyGlyLysTrpGlyValSerProProAspArgPr oAlaValProSerGlyArgGluValGlyGlySerAlaProHisLeuAlaS erArgAlaValArgGluGlyGlyGlyGlyValSerProProProGlyGln ProProArgProGlyGlyArgTrpGlyGlyValSerProProAlaArgPr oAlaValProSerGlyArgTerGlyAlaProLeuProGlyArgProTyrT rpGluValArgSerProSerAlaArgProAlaAlaProSerGlyArgGlu ValGlyValSerAlaProArgProAlaSerArgProValArgGluGlyGl yGlyGlyGlySerGlyGlnProProArgProGlyGlyGluGlyArgLeuC ysProAlaAlaProThrGlyLysTerGlyAlaProLeuProGlyHisHis ProValTrpGluValCysProThrAlaHisTerGluArgAlaArgMetTh rMetAlaAlaLeuTrpAsnArgLysAlaGlyLysValGlyLysArgLeuA rgAsnArgMetValAlaValSerValTerLysGluValAspMetGlyAsp PheSerPheCysSerAlaLeuArgLysIleProLeuProTrpAspProVa lAspLeuTerProTyrProGlnProCysAlaLeuTerAsnMetCysCysV alHisSerGlyLeuAsnGlyLeuArgAlaValGlnAspValLeuCysTer ThrAspAlaTerArgGlnHisAlaArgTerGluSerSerProIleProAs nLeuLysTerSerGlyThrGlnThrLeuArgLysAlaAlaGlySerSerA laTerGluAsnGlnArgProLeuPheThrCysLeuSerAlaAspLeuPro SerThrIleValProTerProCysGlnIleProLeuCysGluLysHisPr oArgIleIleAsnLysLysIleAsnTerLysLysLysLysLysArgLysT yrLeuHis	ZNF404	ENSG00000176222.10	transcript	ENST00000587539.2	protein_coding	3/3	435/1849	435/1659	145/552		chr19	TogoVar
ZNF419_chr19_57482750_57501098	57492212	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0004 a0002c0006 others(4): Show a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0002c0011 a0002c0014 a0007c0016	a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 others(32): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0013 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0020 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0041 a0002c0002t0046 a0002c0002t0050 a0002c0002t0058 a0002c0004t0005 a0002c0004t0049 a0002c0006t0004 a0002c0006t0040 a0002c0010t0056 a0002c0010t0057 a0002c0011t0005 a0002c0014t0016 a0007c0016t0007	a0002c0002t0004g0003 a0002c0002t0004g0026 a0002c0002t0004g0027 others(59): Show a0002c0002t0004g0003 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0034 a0002c0002t0004g0054 a0002c0002t0005g0003 a0002c0002t0005g0004 a0002c0002t0006g0004 a0002c0002t0006g0012 a0002c0002t0006g0013 a0002c0002t0007g0003 a0002c0002t0007g0004 a0002c0002t0007g0012 a0002c0002t0007g0053 a0002c0002t0010g0003 a0002c0002t0010g0026 a0002c0002t0010g0027 a0002c0002t0010g0034 a0002c0002t0010g0070 a0002c0002t0013g0004 a0002c0002t0013g0013 a0002c0002t0013g0024 a0002c0002t0013g0025 a0002c0002t0013g0030 a0002c0002t0013g0035 a0002c0002t0016g0003 a0002c0002t0017g0024 a0002c0002t0017g0025 a0002c0002t0017g0036 a0002c0002t0017g0046 a0002c0002t0018g0004 a0002c0002t0018g0047 a0002c0002t0020g0004 a0002c0002t0022g0031 a0002c0002t0023g0004 a0002c0002t0024g0004 a0002c0002t0025g0003 a0002c0002t0026g0003 a0002c0002t0026g0029 a0002c0002t0027g0003 a0002c0002t0027g0023 a0002c0002t0028g0003 a0002c0002t0035g0003 a0002c0002t0036g0003 a0002c0002t0037g0029 a0002c0002t0038g0003 a0002c0002t0039g0012 a0002c0002t0041g0003 a0002c0002t0046g0056 a0002c0002t0050g0003 a0002c0002t0058g0030 a0002c0004t0005g0003 a0002c0004t0005g0023 a0002c0004t0005g0057 a0002c0004t0049g0044 a0002c0006t0004g0003 a0002c0006t0040g0003 a0002c0010t0056g0019 a0002c0010t0057g0019 a0002c0011t0005g0055 a0002c0014t0016g0052 a0007c0016t0007g0004	139	416	0.3341	0	c.298 others(5): Show c.298+1G>A		ZNF419	ENSG00000105136.22	transcript	ENST00000221735.12	protein_coding	4/4					chr19	TogoVar

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