Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0004t0002 a0002c0004t0024 a0002c0004t0026 a0002c0004t0040 a0002c0018t0003 a0002c0018t0045 a0002c0019t0017 a0002c0020t0002 a0002c0020t0041 a0002c0021t0025 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0136 a0002c0004t0024g0006 a0002c0004t0026g0030 a0002c0004t0040g0011 a0002c0018t0003g0005 a0002c0018t0045g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0041g0020 a0002c0021t0025g0084 a0002c0022t0002g0020	73	430	0.1698	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407		chr1	TogoVar
ABCB5_chr7_20610667_20762008	20626612	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1	a0002 a0003 a0005 others(10): Show a0002 a0003 a0005 a0008 a0010 a0013 a0034 a0037 a0060 a0061 a0064 a0065 a0066	a0002c0003 a0003c0002 a0003c0010 others(13): Show a0002c0003 a0003c0002 a0003c0010 a0005c0015 a0008c0009 a0008c0027 a0010c0017 a0013c0022 a0013c0023 a0034c0052 a0037c0055 a0060c0051 a0061c0058 a0064c0054 a0065c0050 a0066c0057	a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 others(19): Show a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0005c0015t0004 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0010c0017t0007 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0034c0052t0002 a0037c0055t0001 a0060c0051t0001 a0061c0058t0001 a0064c0054t0001 a0065c0050t0001 a0066c0057t0008	a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0164 a0003c0002t0001g0166 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0178 a0003c0002t0001g0181 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0200 a0003c0002t0001g0328 a0003c0002t0001g0331 a0003c0002t0002g0147 a0003c0002t0002g0159 a0003c0002t0002g0171 a0003c0002t0002g0187 a0003c0002t0015g0334 a0003c0010t0001g0133 a0003c0010t0001g0163 a0003c0010t0001g0199 a0003c0010t0001g0205 a0003c0010t0001g0333 a0003c0010t0002g0149 a0003c0010t0002g0188 a0003c0010t0002g0201 a0003c0010t0002g0332 a0005c0015t0004g0215 a0008c0009t0001g0157 a0008c0009t0001g0168 a0008c0009t0001g0179 a0008c0009t0001g0183 a0008c0009t0001g0190 a0008c0009t0001g0195 a0008c0009t0001g0348 a0008c0009t0002g0173 a0008c0009t0002g0177 a0008c0009t0002g0184 a0008c0027t0001g0162 a0008c0027t0002g0330 a0010c0017t0007g0054 a0013c0022t0001g0180 a0013c0022t0021g0161 a0013c0023t0001g0174 a0013c0023t0001g0175 a0013c0023t0001g0182 a0034c0052t0002g0204 a0037c0055t0001g0203 a0060c0051t0001g0176 a0061c0058t0001g0165 a0064c0054t0001g0167 a0065c0050t0001g0329 a0066c0057t0008g0202	70	358	0.1955	0	c.108 others(5): Show c.108+1G>C		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/27					chr7	TogoVar
ACSM2A_chr16_20446521_20492669	20465682	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show HG00673.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG03831.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp2	a0006 a0006	a0006c0006 a0006c0016 a0006c0006 a0006c0016	a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 others(2): Show a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0016t0002	a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 others(27): Show a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 a0006c0006t0002g0323 a0006c0006t0002g0328 a0006c0006t0002g0331 a0006c0006t0002g0332 a0006c0006t0002g0333 a0006c0006t0002g0335 a0006c0006t0002g0338 a0006c0006t0002g0339 a0006c0006t0002g0346 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0350 a0006c0006t0002g0351 a0006c0006t0002g0352 a0006c0006t0002g0353 a0006c0006t0003g0014 a0006c0006t0003g0039 a0006c0006t0003g0337 a0006c0006t0003g0344 a0006c0006t0003g0357 a0006c0006t0009g0330 a0006c0006t0009g0341 a0006c0006t0009g0358 a0006c0006t0019g0329 a0006c0016t0002g0343 a0006c0016t0002g0345	34	434	0.0783	0	c.343 others(3): Show c.343C>T	p.Arg others(4): Show p.Arg115*	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	512/2894	343/1734	115/577		chr16	TogoVar
ADAM33_chr20_3662975_3687010	3668985	ATCTGGAC others(1): Show ATCTGGACT	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show HG00408.hp1 HG00597.hp1 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG03195.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp2 NA18939.hp1 NA18948.hp2 NA18949.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA19005.hp2 NA19006.hp2 NA19054.hp2 NA19055.hp1 NA19076.hp2 NA19080.hp1 NA19086.hp2 NA20300.hp2	a0003 a0005 a0015 others(3): Show a0003 a0005 a0015 a0019 a0021 a0024	a0003c0003 a0003c0039 a0003c0042 others(9): Show a0003c0003 a0003c0039 a0003c0042 a0003c0043 a0005c0009 a0005c0010 a0005c0013 a0005c0035 a0015c0029 a0019c0024 a0021c0037 a0024c0045	a0003c0003t0007 a0003c0003t0008 a0003c0003t0032 others(14): Show a0003c0003t0007 a0003c0003t0008 a0003c0003t0032 a0003c0039t0007 a0003c0042t0007 a0003c0043t0007 a0005c0009t0007 a0005c0010t0008 a0005c0010t0031 a0005c0013t0012 a0005c0013t0021 a0005c0013t0036 a0005c0035t0012 a0015c0029t0022 a0019c0024t0008 a0021c0037t0007 a0024c0045t0034	a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(36): Show a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 a0003c0003t0007g0097 a0003c0003t0007g0140 a0003c0003t0007g0197 a0003c0003t0007g0241 a0003c0003t0007g0249 a0003c0003t0007g0255 a0003c0003t0007g0270 a0003c0003t0008g0005 a0003c0003t0008g0198 a0003c0003t0008g0214 a0003c0003t0008g0215 a0003c0003t0008g0240 a0003c0003t0008g0245 a0003c0003t0032g0295 a0003c0039t0007g0303 a0003c0042t0007g0360 a0003c0043t0007g0361 a0005c0009t0007g0007 a0005c0009t0007g0072 a0005c0009t0007g0090 a0005c0009t0007g0111 a0005c0009t0007g0252 a0005c0010t0008g0039 a0005c0010t0008g0060 a0005c0010t0008g0345 a0005c0010t0008g0351 a0005c0010t0031g0362 a0005c0013t0012g0201 a0005c0013t0012g0262 a0005c0013t0021g0065 a0005c0013t0036g0064 a0005c0035t0012g0206 a0015c0029t0022g0147 a0019c0024t0008g0050 a0021c0037t0007g0110 a0024c0045t0034g0348	46	460	0.1000	-8	c.241 others(17): Show c.2412_2419delAGTCCAGA	p.Gln others(5): Show p.Gln804fs	ADAM33	ENSG00000149451.19	transcript	ENST00000356518.7	protein_coding	22/22	2425/3436	2412/2442	804/813		chr20	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0006g0005 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	208	378	0.5503	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0014 a0017 a0018 a0021 a0022 a0023 a0025 a0028	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0014c0025 a0017c0031 a0018c0020 a0021c0022 a0022c0030 a0023c0033 a0025c0023 a0028c0032	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0014c0025t0007 a0017c0031t0001 a0018c0020t0014 a0021c0022t0001 a0022c0030t0007 a0023c0033t0006 a0025c0023t0007 a0028c0032t0012	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0006g0082 a0001c0001t0006g0153 a0001c0001t0006g0195 a0001c0001t0006g0240 a0001c0001t0006g0243 a0001c0001t0017g0057 a0001c0001t0018g0121 a0001c0001t0020g0144 a0001c0019t0001g0073 a0001c0019t0001g0074 a0001c0035t0001g0069 a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 a0006c0009t0007g0207 a0006c0009t0007g0208 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0015t0001g0022 a0006c0015t0001g0206 a0007c0007t0006g0004 a0007c0007t0006g0155 a0007c0007t0006g0252 a0007c0007t0006g0254 a0007c0007t0012g0253 a0007c0007t0013g0039 a0007c0007t0013g0040 a0007c0007t0014g0154 a0010c0011t0001g0157 a0010c0011t0001g0163 a0010c0011t0001g0193 a0010c0011t0001g0262 a0010c0011t0001g0290 a0013c0016t0001g0032 a0013c0016t0001g0034 a0014c0025t0007g0249 a0017c0031t0001g0158 a0018c0020t0014g0251 a0021c0022t0001g0081 a0022c0030t0007g0162 a0023c0033t0006g0246 a0025c0023t0007g0189 a0028c0032t0012g0194	141	370	0.3811	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528		chr5	TogoVar
ANKRD30A_chr10_37120598_37237567	37170147	GTTTTTTT others(11786): Show GTTTTTTTTTTAATAGATGACTGTGTGTGTGTGTGACTTATAATTTTAAA AAATCAGTCAAGCAATCATTACTTGATGACTCTTTGCTAGGCACCGCATT TTAGAAGAGTGACCCCAAAGCATTTGGCCTTGGTGTGTTTTAATGCTACT GTAATGAATTGCCTAGAGATACAAAAGAGCCTGAAGTAGTTTTTGTCATT CCCGTGAACGTTTACAACATTTTACAACAGGCCTTGCACGGTGGCACATG CCTGGAATCCTAGCAGTTTGGGAGACAAAGGCGGGCAGATAAGTTAAGGT CAGGAGTCCCAGACCAGCCTGGTCAAACTAGTGAAACCCCATCTCTACTA AACATAACAAAAAATAGCCGGTTGTGGTGGTGGGTGCCTGTCATCTCAGC TACTCTGGAGGCTGAGGCAGGAGAATGGCTTGAACCTAGGACGCAGAAGT TGCATGAGCCGAGCTTGTGCCACTTTAGCCTGAGTGACAGAGTGAGACTC CATCTGAAAAGGTAAAGAAATAAAAACACAAAACTCACAACATATGTGTG GTTATAGACTATGTGTAGAATTTGTTTTCATGTCTTATAGGCTGTGTGTA GAATTTGTTTTCATGTCTTAAATTTTCTTTTTTTTTGTTTGTATTTTTTT CTTCAGTTTTTTTGTTTGGTTTTGTTTTTGTTTTTTTGAGATCACCCAGG CTGGAGTGCCATGGCGCCATCTCGGCTCACGCAAGCTCTGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTCCAGGTGC CTGCCACCACGCCCGGCTAATGTTTTGTATCTTTAGTAGAGACAGGGTTT CAGTGTGTTAGCCAGGATGGTCTGATCCGGATCTCCTGACCTTGTGGTCC GCCCGTCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGGCACCGTG CCCGGCCGATGTCTGAAATTTTCAATAAATAGTTGTACGCTGTACATATT GTCCTGGAACTTCCTTGTTTGCTTATCGAATATTTTAGATGGACCCAATA CAATTAGCTCTGCTTTGATTTAAGGCCTCATAGTTTGCCATGTTAACTCT AAAACACATTTAATTAGACTGTGTTTCCTAGCCACTAAAAGTCGACATTA AATGGCAGCTGATATCACAGAGCTTTTACTGAAGTGGGAGTATTTACTGC TTCATTCACTGTTAGAAATTAAAATGAAAATATTTAAAATACACGAATTG GAAAAGTCCTACTTTCCAATACGCATTACAACTGTTACTCATTAACCATG AAAATTATGACATTGTGACATGTCATGAGTCTGAAAAATTTTAGTTTACA CTTTTTAGAAAATATCAGTAAATAGGAGAAATAGGAAAAACATTATGGCC CCCGGTGTATTTGTTGAACTTCAGAGATGCTCAGATCAGAAGCTAGAACA AGAATTTTCAAAAATGCATAAGGTTTTAAAGTGCCAAATAACAAATGGGC TCTTGTATATGAAATAATGTCTGAAGTTGCACCTCTGAGTCTTTTTTCTC TTTTTCTTTTTTAAAAAGATATAAATCAAACAAAATCAAACTTTTGTTTA TAATGAAAAGAGTTGGTTACAGATTCATTCTGTGTCTCATGGCACTGTGC TCTCTTTTTCCCTAGAGAGGATCTAGACTTTTCATCTGTTTACATGGGAA GAAGTAGTTCAGTTTATGGTCTCATTTCTCATATAAACTGTGAAAATTCT CCACGGCTTCACATGCTAGTTCAGAAGATATTGATGCCTTGAGAATAAAG CATCTGGTTGTCACTCCAGCAGTTTTATATTTAAAGTATACCTAATATAG TTGTCAACCACATTACTTTAGAAAACATAAACAAAAGATAGTTACACTTA TTTATTTAAAAAATGGTGACCGGGTGCGGTGGCTCACGTCTGTAATGCCA GCACGTTGGGAGGCCGTGACTGGCAGATCACGAGGTGAGGAGAGCGAGAC CATCCTGACTAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGACGTGGTGGCACGCACTTCTAATAATTTCTCAGGCGATGCTGC TGCTGGTGGTCCTTGGAGCTTGGTCTGAGTAGCAAAAGGAGAGGCCTTTC ATGGGAAAATAGTGGAAGAAGAGCAGTTGGATAGAAGGTCAAGACATAAC AGGGTCAAGAGAATGCATTATATTGCTTTTATTTCTGGGTATGCTTTTAG CCAGAGAAGAAGAAGAAAAAGATAAACAGAAATTATAGATTTAAGATACT ATCACTAAACAAAGAGAAAGGAAATGTTGAACAAATAAATTTGAAACAGT GTTGTATGGGAAGAATTCTACAGAGTTAGAGGTTTTTTTTTAATTTCTTT TTTTTTTTTTTTTTTTTTTTAGTAGAAGCATTCAAGTCAGGTAACGGGAC AAACAAGAAAGAATGTAGGCAGGTAATTCTGGAGACTCTGAGAAGAACAG TTGAGTGAACTCACTTCAGATGCATGTAGATTATTTGCACTCCAGAATGT AGACTGTGGGCACTCCAGAGACTACCAGAATTGGGGGAACCACAGTGACT CATTAGGTTTCTCTGTTACAATCAGGCATGAGAAATATATATATTTTGTT GATGTTAGCTATTGAAATGAGATATATTGGAAACTGAGAACATTGGCTTT ATGTTTAAGGAAGTGTGTTGTTTTGGTAAAATTGCCATTCCACAAAAATT TATTATAGACTAATGATACACCAAACCAGGCGAATTGTAGGATCTGAAAA AATACTGAATTTATACTTGAATAATAAGATTGCTTTTTAAGATAAATATT GTGGTGACTTAACAATATAAAAAAAGTTACTTATGTTTATTTAATCTATT GCAATAAATTTTTATATAAATATGTCAATATTGAAAGCTTAGTATAGATT ATTTCCATGATGAGTTTTACACATCTTGCATGAGTGGATCGAGAAGCATT CAGATGGATAAAGTAGAGGATACAGAATCATAGGCATATGATTACACCCT ATGGTTATGGAAAAAAACGAATATTCATATTTAGTATTATGACCTAAGTG TATATCCAAGCTGATCAATTCATAACACTTCAGTGATGAGATGTCAGTTG TACATTCGGCTGAACTCTCATCATAACTATGTACCTTTCCAAAGATAGGC TATATTAAAGAACAGGATGAATGGAATAATATAAGTGATTCTAATGTGTT TCATTAAGTACGTGGCGTAGCATTCCATGTTCAGCTTTGACATTTATTTT CTCATATCAACCCTTTTTACACGTGAAACACAATCTCGCTCTTGAAGTCT TAACTGCATGATCTGTGAAACCTGTATTTATATTTTCTTCAGTGTATTCT TGTCGTGTGTGTGTCCTAAACAAACCAAAAGAAAACTTTCCAAATCTAAA GTATTCATTCTCCAATTGGAGCAAGAGGAGTCAGTTAGATACTATCACGG CATTCATTTGTGGCTGGCTTGTCATATTTACTTATGATTGATAATAAATC TATTTTGCTTTTTAGAGCCTCCCGAGAAGCCATCTGCCTTCGAGGTATTT AGTTTCATGATTTCATTTTGAATGACTTATTAACTATGTATTTTGTGAAG TATACATTCTTTATTAATCATTTTGCTTCCAACCCCATTTAGCCTGCCAT TGAAATGCAAAAGTCTGTTCCAAATAAAGCCTTGGAATTGAAGAATGAAC AAACATTGAGAGCAGGTAAATTTTTTAATGGAACTATGCAAAGACCAATA TTTCAATATTGGACATTTTGATGGTCCTTCTATCCCCAATGCTTTATTTT TTTCAACTTTGATGAAAAGATTTGATCTAGGTAATGCCAATACTGGTATT GATGTTTGAAAAGCTGGTATTACAAGCACAGTAATTTTCAATATCTTTTT TTAAAAATGTAGGCTTAATCTCAGATGTTTCTACTTTTGTATCCTGAAAC TGTAATGTTTTCTATTTTGAACTTCTGTATTTCTTAAGGATTCAAGAAGG TGAATGTTGAAACTCCAATTTCTTTTTTTAGCTCTTCGAAGCTTGATTCA AATTCCACGGTTTACTTCGGGGATCCCATCTCTTACTGATATAACCCTTG TGTTTTAACATGAATTACCTTGTTTCCGGTGTTGTCACTTTGAGAATCCT AAGAAAATCAGTAACTCGGACTAGTGAACTCTGTGTGTTTATGTGTGTGT GTGTCTGCGTGTGTGCCTGCGTGTGCCTGTGTGTGTGTGGTACCTTTACC TTGTAAAGATGAGGAAAGGAATTATTCATTTCTTTGTGAATATTTGATAA ACACACTTTTTCATGAAACTGTGATTCTGAAGCATTTGGCTTTAGAGTCC TTTTACGCTAGTACCATTTATTGCCTGGAAGTAACCAATATTCTAAACTG TTTTTAGAAACTCTTCTTATGCATGTTTAAACATTTTACAACATGTGTGC GTGGTCATATTTAATATGTACGATTTTTTTCAACTTCTAATGTGTACATG GTTGTAGAGTGTAGTGTTCGGCAACATTCTTTTTTGATCAGCATTATAAT TTTTAGAGACATCCGTAAAGGACACAATTAATTGTGTTTTTAAATATTAG GTTATTTATAAAATTCCATTGTATGACAGTACCATAGTTAATTGCACAAT TTTTATGCCGAGAAGTAATAAATAAAACTGAAAACATGCAAATTTGGGAG TCTTTAAAAAGTTAGTTTTATCTGCTGATTTCTTAGTCATTAGAAATTAA AAGTAACATATTTAAAGTATTTCCTTGTGCAATCATACACTCCACTAAGA ATTTGAACTGTGCCCCACAGCTTCTTAGAGCTATGGTGTGGCAACACGTT AGATCTCTGAAACGATCCAGGGTACGCTTCTAAAAATGAGTGAACATGGT GACTTACCAAAGTGTGATTTGAGTTTCCTGGACCCTCTGCATGAAATGTG AACATGAGCTATGCTGAGATCACAAGTTAAATTTACTTTTGAAACCAGGT ATACAGTTGATGGATGTCAAATGATAAACGTATGCATAGTGATGAAACGG TCTTTTAAGTTTTAGGTGTGCATGTTTGCTTTTTTCCTGAACCTGATTCA AATAGTTGTAATTTGTACTTTGTGCTGATAAAGAAAACTGGACGTTATTT TTGGTATAAATTCTTTTTCTGTCTTATGTCCCTGAGAACTCGTCAAGTCT TGAGTGGGCCTTGATTTTATCCTATTACACGTGGGAACATTAGATTACTT AAGGCAATTATATTTTCCTATACATTTCTGATGTTTCTCCAAGGTGTCAC AAGCTGACTCTGAAGATATTGTTGCATTAGGGAAGAAGTGTGTCATTGTA AATGAAGCAGTTCTTAATTTATACGCAATAAAAGTTTTTTAAGCTTATCT TCCTAAAGCTTATACACACGCAAAACACACCCAATACACTGTCATAGCAT ACTGAAATGTAAAAGGGTTGGACATATAGTTGACTGACATCAAAAAGTTA ATATTTCTAAAACATCTTATTCATTGATAAATCATCTTTTTTGAAGAACT GTGTAAGAGAGATTGCTGAGTCAATCAATGTAAGTAATACTACCAAATAA AAAGTAACAAAGAAATGAGAGATGATAGGTAATTCCAGTTTTCTGAATGA ACAGGAAACCTAGGGCATACTGCGCTTCACAGGAGAATAGGATATGACTG CTTTGTGAAGAGATAATTCATACAAGTTAGTTAAATTTCTATTTTTCTGC ATTCTAATGAAATAATGTTAATTTTCAGACTTTTTAGATTTCAGTTCTAT TGGAATGACTATAGAAGTAGTCATTGCAATCAACAAAAAGAATATACGGG CTACAGAGGAAAAACCTCAGATTCGTGAATGAAAGTAGATTTGTATATGT TTTTAAAATTTTTAGTAGAGAACTGTGCTCATGAATGTATCTGTGATTAA CCTTTTATAGATGAGATACTCCCATCAGAATCCAAACAAAAGGACTATGA AGAAAGTTCTTGGGATTCTGAGGTACTATGTGTTATTGATTTTTTAAATA TTAGTATTGCATGATATGAAAACATAAAATCAGATGCTTAGACTTTATGT TCTCACCTCTGCATGTGTCACCCCCAAATTATTTTTGATATTTTTCAGTA TATGCTTAACGGAGAATCTGTGTGCTAAGTAGATTCCTGCTTCACAGTGA AATTCTGGGAATTTGTACGATTAATTTAAGAAGCCAAAGTGGTATAGTGT AAAAACTAAGGCTTAGAATTCACTAGAAATTCACATGGGATCTGGAGTAC TTTTGTCTAAAAGGAAAAGAATTACACTGAGTCCAGCTATGGGCAAATAT ATGATTCTGTCTTATATCTAGAGGTAGAAAAGTTCTAATTGTATTCATAG AGAGACACTTTAAACTGCAATATTGTAAAAGTTGGGACCTGAAAATTTAA TGCCTGGGACTTGAACGTATTGACATATCTTTATTGTTCAGTATAGATCT GAAGGAACATTTCAGCAGAAAGGAAAGCATGAGGAATAGGAAACCTTGTG GGAGTATAATAACAAGAGTATTGGTTGAGTAGTCTTTTGAAAAATATAAA TTATATTTTCGCAAATAGAACTCCTTGAGTCCCCTTATGGCAGTCAAGCT GAAGCAGCATGAGCGTCATATCATAGTGATGTATTTTAAGGTCACAACGG CGGAAAGACATAGAAAGTATCTGACCTCTTAGAAACAAGCAGCTGCTGCC TGGTGGTAACAGCAAAGGGTGGAAGTCAATAGGTAGATTTTATCTGATAT TTTATTAGACAGAAAGACTTTAACACTTGTTTGCTTTCATTTAGATGTGA CATAATTTTTTTCTTACTGCATTTACATTCTATTCAAACACTTTTTCTAT CACCAAAAATTTTGTCAAAAACATGTTGCTTATTTTAAGCCCCTGTTTAC CGAAAGAAAGCAGCTTTTTCAAATTCTGTACATACATTCTATGACAGACT CTAAAAGTTCTCTTCGTGACATGCATGATTTTTAACAGTAAACAGTTCTA TGATCGTGAATATTTTAAATGTTTACTGCTGTATGTGTCCCGGCAAGTAG CAAATGTGTTGTATTTTGTTTGAAATGTCTTATTTATTTTTGATGAGGAC TAGAACGTAAGTTAGATATTTTTAAGAGAGATACTTTTTGAAATATGCAC GAGTGAATTTTTTGTGAAGGTGATTTGTTTTTCCTGCTCAGTCACCGAGT TAATGGCCACGTGAACGTAAAGATGAGCTTGATGTAGAGAGGGTTATGTG AGGTTTTCTATCAAAATGTGTTTGTTTTCTACATGTATCTGCTCTTAAGT CGAATTGTTTGCAAAGGAGGAAATTGTGTTTTTAAAAAAGAATTTAATTA GGAAATTTTGATACTCTTCATTACTAGGATTTATCCATTGAAATTATTTA TTGCTATTACTTTTAACAGAGTCTCTGTGAGACTGTTTCACAGAAGGATG TGTGTTTACCCAAGGCTGCGCATCAAAAAGAAATAGATAAAATAAATGGA AAATTAGAAGGTAAGAACCGTTTTTTATTTAAAAATCATTTGACCAAATA TTTCTCTAAATTGATGAGGAAGGATATCCTCTAGTAGCTGAAGAAAATTA CCTCCTAAATGCAAACCATGGAAAAAAAGAGAAGTGCAATGGTCATAAGC TATGTGTCTCATCAGGCATTGGCAACAGACTATATTGTGAGTGCTGAAGA GGAGCTGAATTACTAGTTTAAATTCAAGATATTCCAAGACGTGAGGAAAA TGAGAAAATAAGAAAGAAGAAAGTAGTAATAGAGTAAATGAAGACTGAGA AAGACAGAGCGTACAGAGAGTACATGAAGGAACAAGAAACAGGTTTATGT AATGGAGGATGATAAAATGAAATGATTGTTTAGGAAAAGATCGGGTATGG TTAGAAATTTGGGAAGAATATAATGTGACCTTCTAGAATCAAAATTTACC AGAGAATTACAGCAAAAATATTCTGACTCTTAATGTCTTTCTCACTGGTG GGAAGCCATTAGGGATGGAAGCACCTGACCATGGAGAGCTGTGTTCTATT TGCAATAGGTGAGAATAAGCATATCTGCACGGCCACACATGTATATAAAT TGTCATATACACTCCGTATAGACCAGAGGTTTTCAAACTTTAGAAAGTCA GCTGAAAACCTTGTTAACAATTCACACTGAGATTCAGCCGACCTGGGATT CTGCATTTTTAAAAAGTTCTCAGGTGATGCTGATGCTGGTGGTCCTTGGA CGTTGCTCTGGGTAGCAAGAGGAGAGGCCTTTTGTGGGAAAAATGTGGAA GCAGAGCAACTGGATAGAAGGTCAGGACAGAAAAGGTCAGGAGAAAACAT CATGGTCCTCTTAATTTTGAGGATGTTTTTAGTCAGGGGAGAAGAAGAAA GGAGCAATGCAATAGAAATTATAGATGGAAGGTACTACCACTCCTCAAAG TAAAAGGAAAGAGTGGGAAAAAATAATTTTAACAGGTGTCGAATGGGAAG AATCAAGAGCACAAGTCTAGTGATTATTTTTGCTAAAGCAGAGAGATTGT GAGGCAGGAAGCAGGGGACAAGAGAGAAGCCAGCTAGATGATTTTGGATT TTCTATGAAGGAAAATGGAGTGAGCTCACTTCGGAAGCATTTAGAAAAGT TTTACTGCAGAATGTTAGAGTGTGGGTGCTCTGGAGACTACTGGAATCAT GAGGATTACTAGAATTGGACTAAACCTCAGTGACTCATTAATTTTCTTTA TTACTATGAGGCGTCAAATATATATATATATATATATATATATATATATA TATATATATATATATATAGATGTGTGCATGTATGTATGTTTTTGACGTTC ACAATTTGAATAAGATATACTTGAATGTAAGAACCTTGGCTTTATTTTTA AGGAAGCAAATTGTGTTGGTAAAATTGCCATTTTATAAAACCTCATTAGT AAATAACATGCTACACGAAACCAGACTAATTTTGAAAACCATAAAACTCT GAATTTATGACTTGAATACCTAAATTGTTGTTATTCGTAGGTATTTTACT GATTTTAACGTAGAAAATGTTATTAATATTTAAAAGTCTGTTGTAACTAA ATTTAAATGAAATACATCAATATTGAAAGCTTATTAAATTTGCTATTCCT GATGAGATTTGTACATCTTCCTGCATGAGTGGATTAAGAGATATTGAGAT GACTAAGCTAGAAATTACAAAAATGTTGGCATACTATTCCTACATTATGG GAATGAATACCCATATTCCAAGTATATGGGTATGAAAATCAAGGAATATT TATATTTAATATTATGCTCTAAGTATATATCCAAGCTGATCAATTCATAA CACTTTTTCTGATGAGATGTCAATTCTACATTCAGCTGAACTCTTATCCG AACTGTGTGGCTTCTCAATGACAGGACATATTAAAGAACATGATGAATGT TTGTAATGCAATGATATAAATTATTATAATGTGTTGCCTTAAAGACACAT GGTGTAGCATTCTACGTTCAGCTTTTGCATTTATTTTCTCAGTGTCATGA TTTGCTCCTGTGATTCCAGATCAGTTGTCTCCTTATCAGTCAGCATATAC TTATTGGTATTAACACTTTTTGCAAAAATCATATATAAATGGTTGTACAA TGTTGTTGTCATTCTACAGCAACTTTTTAATTTTTGTTCAGCGATTAGCT TGTTTTTCATTTATTTTAAGATTTCAGGCCAGGTGTGGTGGCTCACGCCT GTAATCCCAGCACTTTGGTAGGCCAAGGTGGGTGGATCACGAGGTCAGGA GATCCAGACCATCCTGGCTAACATGGTGAAACCTCACCTCTACTAGAAAT ACAAAAAATCAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTC CGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGCGAGGCGGAGCTTGTGG TGAGCCGATATTACATTATTGTAACATTGAAATATGCAGGTGAATGATAT ATAAAAAGCCTCTGGAAGTTTACTTCTAGTTTTTGATACTTTCACGTTAC GTGTTTTTTCTTTTTTAGAGACAGAGTCTCGCTCTGTCATCCAGGCTGGA GTGCAATGGCATGATCTTGGCTCACTGCCACCTCCAGCTCCTGGGTTCAA GTGATTCTGGTACCTCAGTCACCCAAGTAGCTGAGATTACAGGCATGTGC CACCATACCTGGCTGATTTTTGTAATTTTAGTGGGGACAGTGTTTCTAAA ATAGTGATTTTGGCCAGGCTGGTTTGGAACTCCTGGCCTCCAGAGATCCG CCCTCCTCAGCCTTCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCAC CTGGCCTGTATTGGTTTGTTGATGGGTACGCTTGGACCTTTTTGTATAAG TGGATCAGGAAATTTTAAGAGGACTAAACTAGAGAACCCTATGAATGTGA AAATACTCGTATTTCACAGAGGTACAAAAATGAATATATTTATTAACTTT TATTCTATAGGTAGATATGCTGCTGAATTTAGAACATTCTCTGCAATGAT AAGTACGTTGTACCTTTGAACTCTCATCACAACTTTGCAATTCCTAAACT CCAGGACAAATTGAAGGACATAATAGCTACATGTATATATTGACATAAGT GATTCTGACGTGTTTCCTTAACAATATGCCATAGCATTCTCCCATTAGCT TAGTCATTTATTCTGTTTTGGTGGGGTGTGGCATGACTTGGTCATCTTAT TAAATACAACTTCTTTCCTAATACGGCCGCTTTCTCTTACTGATAGTAGG ATATTTCTGCTTTAGTTATTGTCACCTTAAATATATTTTCAATGTTGAAA TCCTCACAGCATGTTTGATGAAATCTAGTTTTCAAATTTTCTTAGGTATA TTTCTGTCACGTTGGCATGATAACAAATGCAATAACCCAAAAGACCCCAA AAGCTAGTGTAATCCCTTTTGCAATCCAAGCATGAGGATTCATCTTCATG TTGACAGTGCGTGAATGTTCGGTAGGCTTTGTCAAGCTTGCATACAATAA ATTATATATGTCCCTTTTCTTTTAGGGTCTCCTGTTAAAGATGGTCTTCT GAAGGTAATAACTTTTATATTTTTATCTTGAGTATTAACTACATATTTTA TGAAGTATACATTGTATATTAATTGTTTTCTTTCCAAACCCATTTAGGCT AACTGCGGAATGAAAGTTTCTATTCCAACTAAAGCCTTAGAATTGATGGA CATGCAAACTTTCAAAGCAGGTAAATTTTGTAATTTTAATTTTACTCTGG AAAGAAGAATATTAAAATATTTGAAATGCTGTGAGACTTTTCATTCCCAA TGTTGTTTTCTATTCATAATTTGATGGGAAATTTCGATACAAATAATGCC AATGTGAGTATTTCTGTTTGAGAAAATGCCATTTACAAGCATAAGATTTA GAGATTTAGAAAAAAAATTCTGCTTTACCTCATGTGGTTCTACTTTAATG TCCTGATCGGATAAAGTTTCCAATTTGCAATTTCTGTACGCGCTTGGTTT TAAGGTAGGTGAATTTTGAGACTGTGAAATATTTGCAGTGGTTCGAAGGC TGATTGGAATTCTGATGTTTACTCAGAAGAAAGTTTCACTTGCTGACATG ACAGTTGTGAGTGTTACCACTCTGAGAATCTTAAGAAAATCAGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG01981.hp1 HG02056.hp2 HG03098.hp1 others(15): Show HG01981.hp1 HG02056.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA19004.hp2 NA19006.hp2 NA19012.hp1 NA19083.hp2 NA19090.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0023 a0028 a0030	a0001c0001 a0003c0003 a0005c0005 others(3): Show a0001c0001 a0003c0003 a0005c0005 a0023c0017 a0028c0040 a0030c0041	a0001c0001t0001 a0003c0003t0001 a0005c0005t0002 others(3): Show a0001c0001t0001 a0003c0003t0001 a0005c0005t0002 a0023c0017t0001 a0028c0040t0002 a0030c0041t0002	a0001c0001t0001g0206 a0003c0003t0001g0045 a0005c0005t0002g0003 others(14): Show a0001c0001t0001g0206 a0003c0003t0001g0045 a0005c0005t0002g0003 a0005c0005t0002g0268 a0005c0005t0002g0269 a0005c0005t0002g0270 a0005c0005t0002g0271 a0005c0005t0002g0272 a0005c0005t0002g0273 a0005c0005t0002g0274 a0005c0005t0002g0276 a0005c0005t0002g0280 a0005c0005t0002g0281 a0005c0005t0002g0282 a0023c0017t0001g0009 a0028c0040t0002g0278 a0030c0041t0002g0267	18	124	0.1452	-11793	c.225 others(18): Show c.2257+433_2421+5731del		ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	22/36				INFO_REALIGN_3_PRIME	chr10	TogoVar
ARL9_chr4_56500791_56529453	56505976	TAAAC TAAAC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0004 a0003c0007t0001 a0003c0003t0001 a0003c0003t0004 a0003c0007t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 a0003c0003t0001g0023 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0215 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0244 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0273 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0007t0001g0023 a0003c0007t0001g0158 a0003c0007t0001g0192 a0003c0007t0001g0198 a0003c0007t0001g0235 a0003c0007t0001g0259	61	414	0.1473	-4	c.118 others(11): Show c.118_121delCAAA	p.Gln others(4): Show p.Gln40fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	190/1447	118/798	40/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0009g0002 a0001c0001t0013g0144 a0001c0001t0015g0133 a0001c0001t0019g0132 a0001c0001t0020g0055 a0001c0001t0025g0031	113	402	0.2811	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5					chr9	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0003t0002 a0001c0004t0075	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0084 a0001c0001t0007g0097 a0001c0001t0008g0002 a0001c0001t0008g0115 a0001c0001t0008g0125 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0014g0002 a0001c0001t0015g0001 a0001c0001t0018g0007 a0001c0001t0018g0072 a0001c0001t0019g0001 a0001c0001t0020g0026 a0001c0001t0021g0001 a0001c0001t0022g0002 a0001c0001t0022g0011 a0001c0001t0022g0116 a0001c0001t0023g0010 a0001c0001t0024g0004 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0027g0030 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0035g0113 a0001c0001t0037g0105 a0001c0001t0038g0078 a0001c0001t0039g0044 a0001c0001t0040g0001 a0001c0001t0041g0036 a0001c0001t0042g0001 a0001c0001t0043g0012 a0001c0001t0044g0080 a0001c0001t0045g0110 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0121 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0001 a0001c0001t0053g0062 a0001c0001t0054g0053 a0001c0001t0055g0003 a0001c0001t0056g0047 a0001c0001t0057g0076 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0065g0058 a0001c0001t0067g0061 a0001c0001t0071g0019 a0001c0001t0072g0001 a0001c0001t0073g0057 a0001c0001t0074g0034 a0001c0003t0002g0002 a0001c0004t0075g0054	346	412	0.8398	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0014t0002 a0002c0018t0002 a0002c0019t0008 a0002c0020t0001 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0004 a0002c0030t0001 a0002c0031t0001 a0002c0032t0001	a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0314 a0002c0003t0001g0356 a0002c0003t0001g0365 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0006t0001g0039 a0002c0006t0001g0245 a0002c0006t0001g0246 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0256 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0266 a0002c0006t0001g0267 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0272 a0002c0006t0001g0278 a0002c0006t0001g0296 a0002c0006t0001g0299 a0002c0006t0001g0304 a0002c0006t0001g0312 a0002c0006t0001g0322 a0002c0006t0001g0354 a0002c0006t0001g0366 a0002c0006t0003g0033 a0002c0006t0003g0300 a0002c0006t0003g0307 a0002c0008t0002g0004 a0002c0008t0002g0007 a0002c0008t0002g0255 a0002c0008t0002g0313 a0002c0008t0002g0328 a0002c0008t0002g0330 a0002c0008t0002g0331 a0002c0008t0002g0332 a0002c0008t0002g0333 a0002c0008t0002g0334 a0002c0008t0002g0336 a0002c0008t0002g0340 a0002c0008t0002g0341 a0002c0008t0002g0342 a0002c0008t0002g0343 a0002c0008t0002g0357 a0002c0008t0002g0358 a0002c0010t0002g0035 a0002c0010t0002g0036 a0002c0010t0002g0270 a0002c0010t0002g0286 a0002c0010t0002g0287 a0002c0010t0002g0308 a0002c0010t0002g0315 a0002c0010t0002g0316 a0002c0010t0002g0317 a0002c0010t0002g0323 a0002c0010t0002g0324 a0002c0010t0002g0325 a0002c0010t0002g0326 a0002c0010t0002g0329 a0002c0010t0002g0360 a0002c0011t0002g0257 a0002c0011t0002g0319 a0002c0011t0002g0320 a0002c0011t0002g0348 a0002c0011t0002g0353 a0002c0011t0007g0251 a0002c0011t0007g0252 a0002c0011t0007g0253 a0002c0011t0007g0254 a0002c0012t0005g0034 a0002c0012t0005g0250 a0002c0012t0005g0318 a0002c0012t0005g0321 a0002c0012t0005g0327 a0002c0012t0012g0288 a0002c0013t0002g0038 a0002c0013t0002g0344 a0002c0013t0002g0346 a0002c0013t0002g0347 a0002c0014t0002g0037 a0002c0014t0002g0338 a0002c0014t0002g0339 a0002c0018t0002g0310 a0002c0018t0002g0359 a0002c0019t0008g0264 a0002c0019t0008g0273 a0002c0020t0001g0032 a0002c0021t0001g0309 a0002c0021t0001g0362 a0002c0024t0002g0345 a0002c0025t0001g0297 a0002c0026t0001g0276 a0002c0027t0001g0294 a0002c0028t0001g0311 a0002c0029t0004g0355 a0002c0030t0001g0335 a0002c0031t0001g0364 a0002c0032t0001g0337	151	438	0.3447	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
AVPI1_chr10_97672424_97692241	97679916	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0007g0167	101	444	0.2275	0	c.-10 others(5): Show c.-10-1G>C		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	1/2					chr10	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(94): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0008t0002 a0002c0002t0004 a0002c0002t0038 a0002c0002t0039 a0003c0003t0012 a0004c0004t0001 a0004c0004t0023 a0005c0006t0002 a0006c0007t0002 a0007c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0047 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0167 a0001c0001t0005g0006 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0044 a0001c0001t0006g0134 a0001c0001t0006g0140 a0001c0001t0006g0155 a0001c0001t0007g0008 a0001c0001t0007g0105 a0001c0001t0007g0174 a0001c0001t0008g0007 a0001c0001t0008g0033 a0001c0001t0009g0011 a0001c0001t0009g0143 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0010g0055 a0001c0001t0010g0190 a0001c0001t0010g0199 a0001c0001t0010g0204 a0001c0001t0010g0219 a0001c0001t0010g0232 a0001c0001t0011g0018 a0001c0001t0011g0026 a0001c0001t0011g0076 a0001c0001t0011g0078 a0001c0001t0013g0034 a0001c0001t0013g0101 a0001c0001t0013g0104 a0001c0001t0013g0110 a0001c0001t0013g0113 a0001c0001t0014g0028 a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0015g0015 a0001c0001t0015g0133 a0001c0001t0015g0234 a0001c0001t0016g0022 a0001c0001t0016g0130 a0001c0001t0017g0052 a0001c0001t0017g0207 a0001c0001t0017g0227 a0001c0001t0018g0069 a0001c0001t0018g0070 a0001c0001t0018g0072 a0001c0001t0018g0074 a0001c0001t0019g0041 a0001c0001t0019g0116 a0001c0001t0019g0129 a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172 a0001c0001t0022g0020 a0001c0001t0023g0042 a0001c0001t0024g0021 a0001c0001t0025g0053 a0001c0001t0026g0093 a0001c0001t0026g0097 a0001c0001t0027g0030 a0001c0001t0028g0031 a0001c0001t0029g0050 a0001c0001t0030g0180 a0001c0001t0030g0182 a0001c0001t0031g0200 a0001c0001t0032g0123 a0001c0001t0032g0124 a0001c0001t0033g0141 a0001c0001t0033g0145 a0001c0001t0034g0046 a0001c0001t0035g0151 a0001c0001t0035g0166 a0001c0001t0036g0043 a0001c0001t0037g0060 a0001c0001t0040g0169 a0001c0001t0041g0177 a0001c0001t0042g0226 a0001c0001t0043g0224 a0001c0001t0044g0212 a0001c0001t0045g0183 a0001c0001t0047g0092 a0001c0001t0048g0178 a0001c0001t0049g0176 a0001c0001t0050g0073 a0001c0001t0051g0077 a0001c0001t0052g0075 a0001c0001t0053g0112 a0001c0001t0054g0111 a0001c0001t0055g0103 a0001c0001t0056g0175 a0001c0001t0057g0107 a0001c0001t0058g0100 a0001c0001t0059g0106 a0001c0001t0060g0102 a0001c0001t0061g0109 a0001c0001t0062g0193 a0001c0001t0063g0208 a0001c0001t0064g0202 a0001c0001t0065g0216 a0001c0001t0066g0191 a0001c0001t0067g0185 a0001c0001t0068g0218 a0001c0001t0069g0205 a0001c0001t0070g0196 a0001c0001t0071g0108 a0001c0001t0072g0206 a0001c0001t0073g0144 a0001c0001t0074g0125 a0001c0001t0075g0235 a0001c0001t0076g0089 a0001c0001t0077g0161 a0001c0001t0078g0088 a0001c0001t0079g0171 a0001c0001t0080g0146 a0001c0001t0081g0120 a0001c0001t0082g0147 a0001c0001t0083g0117 a0001c0001t0084g0118 a0001c0001t0085g0080 a0001c0001t0086g0148 a0001c0001t0087g0135 a0001c0001t0088g0149 a0001c0001t0089g0165 a0001c0001t0090g0119 a0001c0001t0091g0150 a0001c0001t0092g0099 a0001c0001t0093g0152 a0001c0008t0002g0198 a0002c0002t0004g0012 a0002c0002t0004g0017 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0066 a0002c0002t0038g0065 a0002c0002t0039g0061 a0003c0003t0012g0009 a0003c0003t0012g0067 a0004c0004t0001g0236 a0004c0004t0023g0237 a0005c0006t0002g0189 a0006c0007t0002g0197 a0007c0005t0002g0068	405	412	0.9830	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
CAPRIN2_chr12_30704553_30759951	30735018	G G	T T	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	376	0.0027	0	c.516 others(3): Show c.516C>A	p.Tyr others(4): Show p.Tyr172*	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	756/3727	516/3138	172/1045		chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30735188	T T	A A	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	376	0.0027	0	c.346 others(3): Show c.346A>T	p.Lys others(4): Show p.Lys116*	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	586/3727	346/3138	116/1045		chr12	TogoVar
CDHR1_chr10_84189537_84223694	84194817	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	386	0.0026	0	c.55+ others(4): Show c.55+2T>G		CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding	1/16					chr10	TogoVar
CEACAM21_chr19_41571166_41591844	41586462	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0003c0002 a0003c0006 a0003c0013 a0003c0014 a0004c0004 a0005c0017 a0006c0015 a0010c0009	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0006 a0003c0006t0002 a0003c0013t0001 a0003c0014t0001 a0004c0004t0001 a0004c0004t0005 a0005c0017t0001 a0006c0015t0001 a0010c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0083 a0002c0003t0003g0003 a0002c0005t0001g0010 a0002c0005t0001g0013 a0002c0005t0001g0026 a0002c0007t0001g0035 a0002c0007t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0006t0002g0020 a0003c0006t0002g0062 a0003c0013t0001g0054 a0003c0014t0001g0002 a0004c0004t0001g0059 a0004c0004t0005g0058 a0005c0017t0001g0046 a0006c0015t0001g0079 a0010c0009t0001g0003	163	392	0.4158	0	c.1- others(4): Show c.1-2A>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CEL_chr9_133056981_133076861	133071270	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02155.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03710.hp1 HG04115.hp2 NA18954.hp1 NA18991.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19080.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0017t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0017t0001g0001 a0002c0004t0001g0022 a0002c0004t0001g0037	45	414	0.1087	1	c.177 others(5): Show c.1776dupC	p.Val others(5): Show p.Val593fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1799/2381	1777/2262	593/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071337	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01106.hp1 HG01433.hp1 others(17): Show HG01099.hp1 HG01106.hp1 HG01433.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG03225.hp1 HG03225.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 NA18941.hp1 NA18950.hp2 NA18966.hp2 NA19006.hp2 NA19054.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0009t0001g0030	20	408	0.0490	-32	c.184 others(41): Show c.1843_1874delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val615fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1865/2381	1843/2262	615/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071435	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show HG00544.hp1 HG00597.hp2 HG01099.hp2 HG01106.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02572.hp2 HG02602.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18975.hp1 NA18977.hp1 NA19006.hp2 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19072.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 a0001c0001t0001 a0001c0001t0002 a0001c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0022t0001g0001	23	384	0.0599	1	c.194 others(5): Show c.1941dupC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp1 HG03654.hp2 HG03688.hp2 NA18522.hp2 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18984.hp2 NA18987.hp2 NA19006.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19090.hp1 NA20752.hp2	a0001 a0008 a0017 a0001 a0008 a0017	a0001c0001 a0001c0002 a0008c0020 others(1): Show a0001c0001 a0001c0002 a0008c0020 a0017c0018	a0001c0001t0001 a0001c0002t0001 a0008c0020t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0008c0020t0001 a0017c0018t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(13): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0008c0020t0001g0002 a0017c0018t0001g0045	38	397	0.0957	1	c.196 others(10): Show c.1965_1966insC	p.Ala others(5): Show p.Ala656fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1988/2381	1966/2262	656/753		chr9	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0017 a0001c0022 a0002c0004 a0002c0013 a0007c0010 a0011c0012 a0014c0014 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0017t0001 a0001c0022t0001 a0002c0004t0001 a0002c0013t0001 a0007c0010t0001 a0011c0012t0001 a0014c0014t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0003t0001g0013 a0001c0009t0001g0030 a0001c0017t0001g0001 a0001c0022t0001g0001 a0002c0004t0001g0037 a0002c0013t0001g0036 a0007c0010t0001g0003 a0011c0012t0001g0080 a0014c0014t0001g0064 a0018c0023t0001g0040	181	409	0.4425	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071535	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02293.hp2 HG02630.hp1 HG03130.hp2 HG03654.hp2 HG03688.hp2 NA18941.hp2 NA18946.hp2 NA18954.hp2 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19066.hp2 NA19090.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0020 a0001c0001 a0001c0002 a0008c0020	a0001c0001t0001 a0001c0002t0001 a0008c0020t0001 a0001c0001t0001 a0001c0002t0001 a0008c0020t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(11): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0008c0020t0001g0002	42	414	0.1014	-32	c.204 others(41): Show c.2041_2072delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071600	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0009t0001g0030 a0001c0017t0001g0001	47	408	0.1152	1	c.210 others(5): Show c.2106dupC	p.Val others(5): Show p.Val703fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2129/2381	2107/2262	703/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CFHR2_chr1_196938738_196964622	196950930	AAATT AAATT	A A	frameshift_variant frameshift_variant	HIGH	HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show HG02523.hp1 NA18945.hp1 NA18969.hp2 NA18972.hp1 NA19006.hp1 NA19072.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0012 a0002c0004t0001g0050 a0002c0004t0001g0051	6	368	0.0163	-4	c.334 others(11): Show c.334_337delATTA	p.Ile others(5): Show p.Ile112fs	CFHR2	ENSG00000080910.14	transcript	ENST00000367415.8	protein_coding	3/5	477/1498	334/813	112/270	INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0014 others(5): Show a0001 a0009 a0014 a0015 a0017 a0020 a0021 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0014c0015 a0015c0024 a0017c0027 a0020c0018 a0021c0028 a0023c0017	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0014c0015t0001 a0015c0024t0001 a0017c0027t0001 a0020c0018t0001 a0021c0028t0001 a0023c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0014c0015t0001g0046 a0015c0024t0001g0107 a0017c0027t0001g0153 a0020c0018t0001g0096 a0021c0028t0001g0102 a0023c0017t0001g0136	175	482	0.3631	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CHMP4A_chr14_24204615_24218488	24210370	A A	AGAAGGTA others(6): Show AGAAGGTACACTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0045 a0007c0005t0001g0045	1	416	0.0024	13	c.575 others(20): Show c.575_587dupCTAGTGTACCTTC	p.Thr others(5): Show p.Thr197fs	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding	5/6	636/980	587/669	196/222		chr14	TogoVar
COPS6_chr7_100083969_100097187	100090902	C C	CTTCCTGT others(9): Show CTTCCTGTCAGCGTTTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0003 a0002c0007t0002g0003	1	420	0.0024	16	c.489 others(23): Show c.489_504dupTCCTGTCAGCGTTTTT	p.Glu others(5): Show p.Glu169fs	COPS6	ENSG00000168090.10	transcript	ENST00000303904.8	protein_coding	6/10	527/1404	505/984	169/327	INFO_REALIGN_3_PRIME	chr7	TogoVar
CRELD1_chr3_9928834_9950406	9940914	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG01175.hp2 HG01255.hp1 others(7): Show HG00673.hp1 HG01175.hp2 HG01255.hp1 HG02257.hp1 HG03098.hp1 HG03516.hp1 HG03654.hp1 HG03927.hp1 NA18966.hp2 NA19006.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0007 others(7): Show a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0012 a0002c0003t0001g0022 a0002c0003t0001g0050 a0002c0003t0001g0052 a0002c0003t0001g0154 a0002c0003t0001g0155	10	400	0.0250	1	c.530 others(4): Show c.530dupG	p.Ser others(5): Show p.Ser178fs	CRELD1	ENSG00000163703.20	transcript	ENST00000452070.6	protein_coding	6/11	637/2196	531/1263	177/420	INFO_REALIGN_3_PRIME	chr3	TogoVar
CSH2_chr17_63867016_63878677	63873340	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	410	0.0024	0	c.11- others(4): Show c.11-1G>A		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	1/4					chr17	TogoVar
CSH2_chr17_63867016_63878677	63873341	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	410	0.0024	0	c.11- others(4): Show c.11-2A>C		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	1/4					chr17	TogoVar
CSTL1_chr20_23434685_23449930	23444046	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18953.hp1 NA18954.hp1 NA18966.hp1 others(1): Show NA18953.hp1 NA18954.hp1 NA18966.hp1 NA19006.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	4	450	0.0089	0	c.330 others(5): Show c.330+2T>C		CSTL1	ENSG00000125823.13	transcript	ENST00000347397.5	protein_coding	3/3					chr20	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011 a0009c0013 a0010c0010 a0011c0009 a0012c0012 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0040 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0023 a0002c0002t0030 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044 a0004c0004t0009 a0005c0008t0013 a0005c0008t0024 a0006c0007t0058 a0006c0007t0059 a0007c0006t0039 a0008c0011t0024 a0009c0013t0001 a0010c0010t0013 a0011c0009t0001 a0012c0012t0057 a0013c0014t0033 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0139 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0177 a0001c0001t0005g0182 a0001c0001t0005g0197 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0090 a0001c0001t0007g0106 a0001c0001t0007g0132 a0001c0001t0007g0171 a0001c0001t0007g0176 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0181 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0009g0001 a0001c0001t0009g0020 a0001c0001t0009g0027 a0001c0001t0009g0048 a0001c0001t0009g0174 a0001c0001t0009g0184 a0001c0001t0011g0005 a0001c0001t0011g0034 a0001c0001t0011g0077 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0085 a0001c0001t0012g0010 a0001c0001t0012g0028 a0001c0001t0012g0068 a0001c0001t0012g0149 a0001c0001t0012g0166 a0001c0001t0013g0001 a0001c0001t0013g0014 a0001c0001t0013g0027 a0001c0001t0013g0039 a0001c0001t0014g0007 a0001c0001t0014g0026 a0001c0001t0014g0028 a0001c0001t0014g0073 a0001c0001t0014g0148 a0001c0001t0014g0154 a0001c0001t0014g0158 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0144 a0001c0001t0016g0152 a0001c0001t0016g0159 a0001c0001t0019g0074 a0001c0001t0020g0002 a0001c0001t0020g0047 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0155 a0001c0001t0021g0005 a0001c0001t0021g0080 a0001c0001t0024g0187 a0001c0001t0024g0188 a0001c0001t0024g0192 a0001c0001t0025g0013 a0001c0001t0025g0014 a0001c0001t0025g0069 a0001c0001t0025g0175 a0001c0001t0025g0178 a0001c0001t0026g0003 a0001c0001t0026g0009 a0001c0001t0026g0116 a0001c0001t0026g0125 a0001c0001t0027g0161 a0001c0001t0029g0003 a0001c0001t0029g0124 a0001c0001t0029g0141 a0001c0001t0031g0078 a0001c0001t0031g0084 a0001c0001t0031g0086 a0001c0001t0033g0021 a0001c0001t0035g0087 a0001c0001t0035g0088 a0001c0001t0041g0030 a0001c0001t0042g0004 a0001c0001t0045g0014 a0001c0001t0046g0053 a0001c0001t0047g0053 a0001c0001t0048g0001 a0001c0001t0049g0179 a0001c0001t0050g0079 a0001c0001t0051g0007 a0001c0001t0053g0001 a0001c0001t0054g0138 a0001c0001t0055g0055 a0001c0001t0056g0055 a0001c0001t0060g0021 a0001c0001t0061g0076 a0001c0001t0062g0203 a0001c0001t0063g0030 a0001c0001t0064g0202 a0001c0005t0040g0162 a0001c0005t0040g0163 a0002c0002t0010g0006 a0002c0002t0010g0011 a0002c0002t0010g0033 a0002c0002t0010g0061 a0002c0002t0010g0222 a0002c0002t0010g0224 a0002c0002t0010g0228 a0002c0002t0010g0229 a0002c0002t0010g0230 a0002c0002t0015g0006 a0002c0002t0015g0011 a0002c0002t0015g0223 a0002c0002t0015g0226 a0002c0002t0015g0232 a0002c0002t0017g0017 a0002c0002t0017g0038 a0002c0002t0017g0101 a0002c0002t0023g0006 a0002c0002t0023g0011 a0002c0002t0023g0225 a0002c0002t0023g0231 a0002c0002t0030g0006 a0002c0002t0030g0227 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168 a0004c0004t0009g0032 a0005c0008t0013g0001 a0005c0008t0024g0189 a0006c0007t0058g0165 a0006c0007t0059g0164 a0007c0006t0039g0035 a0008c0011t0024g0172 a0009c0013t0001g0002 a0010c0010t0013g0001 a0011c0009t0001g0108 a0012c0012t0057g0200 a0013c0014t0033g0021 a0014c0015t0001g0089	411	446	0.9215	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 a0003c0003t0001g0104 a0003c0003t0001g0121 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0140 a0003c0003t0001g0167 a0003c0003t0001g0173 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0130 a0003c0003t0003g0135 a0003c0003t0003g0202 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0018t0003g0007 a0003c0019t0003g0216	68	398	0.1709	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
DDX54_chr12_113152173_113190478	113163276	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	304	0.0033	0	c.193 others(6): Show c.1939-2A>G		DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	15/19					chr12	TogoVar
DEFA4_chr8_6930820_6943306	6936727	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show HG02015.hp2 HG02074.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18978.hp1 NA18979.hp2 NA19006.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	18	484	0.0372	0	c.172 others(5): Show c.172+1G>T		DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding	2/2					chr8	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(58): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0009 a0003c0003 a0003c0006 a0003c0009	a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001	a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 others(5): Show a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009	61	458	0.1332	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0006 others(2): Show a0002c0002 a0003c0003 a0003c0006 a0003c0009 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009 a0004c0004t0001g0005 a0004c0004t0001g0019	232	458	0.5066	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0021 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0018 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0019 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	436	0.4472	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	384	0.2891	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DRD1_chr5_175435036_175449182	175443071	T T	TCCATGGC others(10): Show TCCATGGCAGAGGTGTTC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0035 a0004c0009t0001g0035	1	488	0.0020	17	c.12_ others(22): Show c.12_28dupGAACACCTCTGCCATGG	p.Asp others(4): Show p.Asp10fs	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding	2/2	995/4031	28/1341	10/446		chr5	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0007 a0002c0009 others(1): Show a0002c0002 a0002c0007 a0002c0009 a0005c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0007t0002 a0002c0009t0003 a0005c0006t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0007t0002g0000 a0002c0009t0003g0000 a0005c0006t0002g0000	114	426	0.2676	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF2AK4_chr15_39929115_40040591	39976763	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG02145.hp1 HG02738.hp2 HG03098.hp1 others(5): Show HG02145.hp1 HG02738.hp2 HG03098.hp1 HG03471.hp1 HG03669.hp2 NA18957.hp2 NA19006.hp2 NA19087.hp2	a0006 a0011 a0015 a0006 a0011 a0015	a0006c0012 a0006c0032 a0011c0017 others(1): Show a0006c0012 a0006c0032 a0011c0017 a0015c0023	a0006c0012t0001 a0006c0012t0002 a0006c0012t0003 others(4): Show a0006c0012t0001 a0006c0012t0002 a0006c0012t0003 a0006c0032t0005 a0011c0017t0002 a0011c0017t0003 a0015c0023t0003	a0006c0012t0001g0267 a0006c0012t0002g0150 a0006c0012t0002g0176 others(5): Show a0006c0012t0001g0267 a0006c0012t0002g0150 a0006c0012t0002g0176 a0006c0012t0003g0269 a0006c0032t0005g0122 a0011c0017t0002g0239 a0011c0017t0003g0341 a0015c0023t0003g0232	8	366	0.0219	1	c.217 others(5): Show c.2172dupC	p.Ala others(5): Show p.Ala725fs	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	12/39	2254/5538	2173/4950	725/1649	INFO_REALIGN_3_PRIME	chr15	TogoVar
ENTR1_chr9_136396922_136415614	136410362	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00558.hp1 HG01496.hp2 HG01952.hp1 others(13): Show HG00558.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG02056.hp1 HG02148.hp1 HG02572.hp2 HG03139.hp1 HG03831.hp2 NA18941.hp2 NA18987.hp2 NA18988.hp2 NA19006.hp1 NA19058.hp1 NA19063.hp2 NA19067.hp2	a0003 a0003	a0003c0005 a0003c0007 a0003c0008 others(3): Show a0003c0005 a0003c0007 a0003c0008 a0003c0015 a0003c0016 a0003c0017	a0003c0005t0001 a0003c0005t0016 a0003c0007t0002 others(4): Show a0003c0005t0001 a0003c0005t0016 a0003c0007t0002 a0003c0008t0003 a0003c0015t0002 a0003c0016t0002 a0003c0017t0004	a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 others(11): Show a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0084 a0003c0005t0016g0066 a0003c0007t0002g0019 a0003c0007t0002g0083 a0003c0008t0003g0048 a0003c0008t0003g0049 a0003c0008t0003g0050 a0003c0015t0002g0082 a0003c0016t0002g0081 a0003c0017t0004g0067	16	410	0.0390	1	c.35d others(3): Show c.35dupC	p.Leu others(4): Show p.Leu13fs	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	1/10	252/2391	35/1308	12/435		chr9	TogoVar
FAM110C_chr2_33814_51505	46307	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18947.hp2 NA18976.hp2 NA18978.hp1 others(4): Show NA18947.hp2 NA18976.hp2 NA18978.hp1 NA19006.hp1 NA19059.hp1 NA19067.hp2 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0003c0003t0001g0017 a0003c0003t0002g0033 a0003c0003t0003g0018 a0003c0003t0001g0017 a0003c0003t0002g0033 a0003c0003t0003g0018	7	440	0.0159	1	c.78d others(3): Show c.78dupC	p.Asp others(4): Show p.Asp27fs	FAM110C	ENSG00000184731.6	transcript	ENST00000327669.5	protein_coding	1/2	198/3880	78/966	26/321		chr2	TogoVar
FAM241A_chr4_112140454_112200256	112186768	G G	T T	stop_gained stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0001 a0003c0003t0016g0001	1	386	0.0026	0	c.229 others(3): Show c.229G>T	p.Glu others(3): Show p.Glu77*	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding	2/2	356/8844	229/399	77/132		chr4	TogoVar
FAM8A1_chr6_17595302_17616715	17600887	C C	T T	stop_gained stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0009 a0004c0007t0001g0009	1	372	0.0027	0	c.478 others(3): Show c.478C>T	p.Gln others(4): Show p.Gln160*	FAM8A1	ENSG00000137414.7	transcript	ENST00000259963.4	protein_coding	1/5	586/4726	478/1242	160/413		chr6	TogoVar
FEZF2_chr3_62364681_62378550	62372516	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show HG00597.hp1 HG00642.hp1 HG01261.hp1 HG01261.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02818.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18949.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp2 NA19063.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0002g0005 others(2): Show a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0002g0005 a0002c0002t0002g0019 a0002c0002t0003g0014	25	418	0.0598	1	c.352 others(4): Show c.352dupG	p.Ala others(5): Show p.Ala118fs	FEZF2	ENSG00000153266.13	transcript	ENST00000283268.8	protein_coding	2/5	682/2112	352/1380	118/459		chr3	TogoVar
FIG4_chr6_109686296_109830426	109732621	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0003c0005 a0003c0007 a0003c0017 a0003c0018 a0004c0006 a0004c0008 a0007c0013 a0008c0019	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0009t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0001 a0003c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0017t0001 a0003c0018t0001 a0004c0006t0001 a0004c0008t0002 a0007c0013t0002 a0008c0019t0006	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0003g0003 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0018 a0001c0003t0001g0097 a0001c0003t0001g0145 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0188 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0319 a0001c0003t0001g0364 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0218 a0002c0002t0001g0354 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0150 a0002c0002t0002g0164 a0002c0002t0002g0211 a0002c0002t0002g0225 a0002c0002t0002g0298 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0003g0209 a0002c0002t0004g0010 a0002c0002t0004g0123 a0002c0002t0004g0186 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0238 a0002c0002t0004g0294 a0002c0002t0004g0305 a0002c0002t0004g0348 a0002c0002t0004g0350 a0002c0002t0004g0351 a0002c0002t0004g0352 a0002c0002t0004g0353 a0002c0002t0004g0355 a0002c0002t0004g0356 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0140 a0002c0004t0001g0160 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0189 a0002c0004t0001g0199 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0004t0001g0231 a0002c0004t0001g0232 a0002c0004t0001g0242 a0002c0004t0001g0248 a0002c0004t0001g0256 a0002c0004t0001g0295 a0002c0004t0004g0230 a0002c0009t0002g0157 a0002c0009t0002g0158 a0002c0009t0002g0159 a0002c0012t0001g0137 a0002c0014t0002g0015 a0002c0015t0001g0181 a0003c0005t0001g0004 a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0072 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0311 a0003c0005t0001g0312 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0001g0331 a0003c0005t0001g0332 a0003c0005t0001g0333 a0003c0005t0001g0334 a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0338 a0003c0005t0001g0339 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0345 a0003c0005t0001g0346 a0003c0007t0001g0313 a0003c0007t0001g0321 a0003c0007t0001g0328 a0003c0007t0001g0343 a0003c0007t0002g0344 a0003c0017t0001g0314 a0003c0018t0001g0318 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0324 a0004c0006t0001g0337 a0004c0006t0001g0340 a0004c0008t0002g0309 a0004c0008t0002g0310 a0004c0008t0002g0315 a0004c0008t0002g0322 a0004c0008t0002g0323 a0007c0013t0002g0222 a0008c0019t0006g0020	278	365	0.7616	1	c.447 others(6): Show c.447-3dupT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	4/22				INFO_REALIGN_3_PRIME	chr6	TogoVar
FLG2_chr1_152343735_152365006	152350656	G G	T T	stop_gained stop_gained	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0003 a0004 a0005 others(9): Show a0003 a0004 a0005 a0006 a0016 a0018 a0019 a0020 a0032 a0034 a0036 a0037	a0003c0002 a0003c0042 a0003c0043 others(12): Show a0003c0002 a0003c0042 a0003c0043 a0004c0004 a0004c0045 a0005c0005 a0006c0007 a0016c0025 a0018c0023 a0019c0022 a0020c0028 a0032c0049 a0034c0044 a0036c0026 a0037c0027	a0003c0002t0002 a0003c0002t0012 a0003c0002t0019 others(16): Show a0003c0002t0002 a0003c0002t0012 a0003c0002t0019 a0003c0042t0002 a0003c0043t0002 a0004c0004t0002 a0004c0045t0002 a0005c0005t0002 a0005c0005t0006 a0005c0005t0008 a0006c0007t0002 a0016c0025t0002 a0018c0023t0013 a0019c0022t0002 a0020c0028t0002 a0032c0049t0002 a0034c0044t0002 a0036c0026t0002 a0037c0027t0002	a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 a0003c0002t0012g0022 a0003c0002t0019g0068 a0003c0042t0002g0065 a0003c0043t0002g0066 a0004c0004t0002g0004 a0004c0004t0002g0021 a0004c0045t0002g0069 a0005c0005t0002g0007 a0005c0005t0002g0033 a0005c0005t0006g0018 a0005c0005t0008g0023 a0006c0007t0002g0005 a0016c0025t0002g0032 a0018c0023t0013g0031 a0019c0022t0002g0030 a0020c0028t0002g0055 a0032c0049t0002g0071 a0034c0044t0002g0067 a0036c0026t0002g0053 a0037c0027t0002g0054	155	420	0.3690	0	c.713 others(4): Show c.7130C>A	p.Ser others(5): Show p.Ser2377*	FLG2	ENSG00000143520.6	transcript	ENST00000388718.5	protein_coding	3/3	7203/9124	7130/7176	2377/2391		chr1	TogoVar

Search by Variant

Search

Search Results