Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
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
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0017 others(2): Show a0002 a0006 a0017 a0018 a0019	a0002c0002 a0002c0005 a0002c0024 others(7): Show a0002c0002 a0002c0005 a0002c0024 a0002c0025 a0006c0008 a0006c0019 a0006c0029 a0017c0026 a0018c0021 a0019c0030	a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 a0002c0025t0001 a0006c0008t0001 a0006c0019t0001 a0006c0029t0001 a0017c0026t0001 a0018c0021t0001 a0019c0030t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0176 a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 a0002c0005t0001g0166 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0005t0001g0170 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0024t0001g0148 a0002c0025t0001g0070 a0006c0008t0001g0018 a0006c0008t0001g0027 a0006c0008t0001g0099 a0006c0008t0001g0107 a0006c0008t0001g0139 a0006c0008t0001g0140 a0006c0008t0001g0144 a0006c0019t0001g0143 a0006c0019t0001g0145 a0006c0029t0001g0003 a0017c0026t0001g0175 a0018c0021t0001g0068 a0019c0030t0001g0009	132	433	0.3049	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334		INFO_REALIGN_3_PRIME	chr19	TogoVar
DIAPH2_chrX_96679842_97609997	97348277	T T	TTTGGACA others(12): Show TTTGGACACTAGATCGCGTG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0135 a0002c0006t0001g0135	1	147	0.0068	19	c.300 others(32): Show c.3009+1_3009+2insACACTAGATCGCGTGTTGG		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26					INFO_REALIGN_3_PRIME	chrX	TogoVar
DIS3L_chr15_66288568_66338898	66293695	C C	A A	stop_gained stop_gained	HIGH	NA18967.hp2 NA18967.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0280 a0012c0012t0001g0280	1	398	0.0025	0	c.99C others(2): Show c.99C>A	p.Cys others(3): Show p.Cys33*	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	1/17	128/3780	99/3165	33/1054			chr15	TogoVar
DRD4_chr11_632269_645706	639791	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show HG00544.hp1 HG00642.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp1 HG02055.hp1 HG02738.hp1 HG03688.hp1 NA18950.hp2 NA18967.hp2 NA19030.hp2 NA19075.hp2 NA19077.hp1	a0004 a0014 a0004 a0014	a0004c0005 a0004c0007 a0004c0034 others(1): Show a0004c0005 a0004c0007 a0004c0034 a0014c0019	a0004c0005t0001 a0004c0005t0002 a0004c0007t0001 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0007t0001 a0004c0034t0001 a0014c0019t0001	a0004c0005t0001g0001 a0004c0005t0001g0003 a0004c0005t0001g0005 others(7): Show a0004c0005t0001g0001 a0004c0005t0001g0003 a0004c0005t0001g0005 a0004c0005t0001g0006 a0004c0005t0001g0019 a0004c0005t0002g0007 a0004c0007t0001g0002 a0004c0007t0001g0010 a0004c0034t0001g0057 a0014c0019t0001g0007	13	420	0.0310	1	c.546 others(4): Show c.546dupC	p.Ala others(5): Show p.Ala183fs	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	583/1399	547/1260	183/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNLT5_chr1_66747459_66784047	66776404	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01168.hp1 HG01517.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0010 a0003c0003t0021 a0003c0003t0002 a0003c0003t0010 a0003c0003t0021	a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 others(29): Show a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0037 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0100 a0003c0003t0002g0101 a0003c0003t0002g0108 a0003c0003t0002g0112 a0003c0003t0002g0123 a0003c0003t0002g0131 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0010g0008 a0003c0003t0010g0096 a0003c0003t0021g0095	55	400	0.1375	0	c.336 others(5): Show c.336+1G>A		DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	4/4						chr1	TogoVar
ENOSF1_chr18_665318_717630	681605	GTTTAAAT others(9044): Show GTTTAAATAATGAAGGCTGTGGTCGCTCCATGGCTCCTGCTCACCCTTCC CTCACCTGAGGCTTAGCTTTCCTTATGGAGTCAGCTCTGGCCATCTCCCT CGTCCCAGCCCACACCCAACGTTCTCCTCAATGAACTTTTCTACTGTGCT TGGCATTCAGTGCCCTGGCCCAGTATCCTCCGGTCTTTGTTTCACATATC TCGGCTGTTCTCTCCAGCGAGGCTGCAATGTGGAAGGGGAGGGCATTTCT GAAACCCAGGCTTTGGCAGAGTATCCCACATAATGTAGATCATGTGCTGA TTTGCTGAGAGAAACAGAGAACTGGTCCCTGAGTCCCCGACTCCACACCT CCAGTACGACCCATGAATTTATGTGGGATGCATCAAGGTGTCCCTCCTAG AACTGGAACCAAGACTGCTCCATCAGAGTTAAAGGTGTAAGATCAACACA AAATGGGGAGTGTATAGCTATGCAAAGTCACCTCAGGAAAAAATGTTCCT AGGCAGGCAGGATGTGGCTATAAGCCACATGAATGTACAGTCGTGTCACT GAATGACAAGGTTACCCTCTGAGAAATGTGCCGTTGGGCTGTTTCATCAT TGTGTGAACATCATAGAGTGTACGTCCATGACCCTAGATGGTAGAGACTA CTACACGCCCTAGGCTATATGGCATGGCCTATTGCTCCCAGGCTACAAAC CTGTACAGCATGCTACTGTTCTGAACGCTGCAGGCAATTGGAACACAATG GCCAGTATCTAAACATACTTAAACATAGGAAAGGTAATGCGTTGCACCAC ATTACAATCTCTACAACGTCACTGGGCAATGAGTTTTTCAGCTCCATTAT AAGCTTATGGGATTATATATACTGCGCCATTATATAGGCAGTCTTTCACT GACTGAAACATTGTTATGGGGCACATGACTGTGCCAAACCAGTTAGCGTG TAGGAGAAAAAAAATTATCAGATGAAAACACAAGGCCGGGCGCGGTGGCT CACTCCTGTAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGGTCTGA GGTCAGGAGTTCGAGACAGGCCTGGCCAATGTGGTGAAACCTCATCTCTA CTAAAAATACCAAAAAAAAAAAAAAAAAAAAAGCCAGGCATGGTGGCACA CATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAA CTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAG CCTGGGCAACAGAGTAAGACTCTATCTCAAAACAAAACAAAACAAAACAA AAAAAACCACCAAAAAACAAAAAAAAAAAATGCTGTCACATTTCTGTATT TACAAAGCATAGGAACCATGTCTATTAACCTTCAAATTGCTGGTAGCCCT TCAACTTTTAGCAGCTTACTTTATCTAAAACAAACAGAAATAAGGGCAAA GTATAAGCTGAAGTAGAAAAAGGAATGTCAGGTCTGTAACCCCTGTATTT GTCACACATTACAATTATTTCAGCTACTTCAACAGGAAATGCAAGAGGGA ACAAGTGAAGAAATTTTAGGATCTGTCCCCAGCACTCTGGAAAACTAAAC AGAAAAATAAGCTGCCACAGCAGCAGCAGCCGTTTTCCTACCTTGGAAAT GGTGGCGTGCCCCAGAATGTCATCAGGGGAGGTTGGCTCCTCAATCCACA ATGGCTTGAACTTGGCCAGCTTGGACATCCACTCCACCGCCTCAGGCACA TCCCAGCGCTGGTTGGCATCCATCATCTGCAAAAAGAGACTCTTCACAGG GAGGTCAGCCCTGAGCCAACCTCACAGCAGGGCTGCGGCTCCCAGGGAGG AAATGCTGTCACTCAGTGCCACCAACAGCTGAGTGAGACCCCCTAACGCC TCTGCTGAGGCCCAGCACACGGCCCTAACAAAAAGAGCCAGAGAGCAGCT GCTGAGACGGGGACTCTGGCTCCAGGTACAGTCTTTAGGAGGAGCCGTGA ATCGCTTGAGGAGCCACTGGATGTCCAGCAGTGCCCTGGGCTGGGCCATG AGAAGTGCTCGCTGGCCCTGGGCTCTGGTCCAATCTCCATCTAGATGCCA CCCAAATACATGTGTCTTGCAGTGTTGGTTCTGTTCGTAGAAACCATTTT GTCACATTCTGAATCATGCACAATCAACATTGTTTGTTCAATAGTCATTT ATTGACTATTGCCCACTGTGTGTCTGGCACAATAATAAGTAGCCTTAACT CTCCCATAATGGCACACCTACTCCACTAGGCACTTTATGGATTTTGTTCC ATTTAATATTTATAATAACTGGCCAGGCATGGTGGCTCATGCCTGTAATC TCAACACTCTGGGAGGCTGAAGCCCGTGGATTTCTTTTCTTTTTCTTTTT TTTTTTTGAGACAGAGTCTCGCTCTGTCACCAAGGCTGGAGTGCAGTGGC GCTATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCA GGCTATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGCCATGAGCCACTGCATCTGGCCCAGCCTGTGG ATTTCTTGAGCCCAGGAGTTCAAGACCAGGCTGGGCAACATAGCAAAATC CTCTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCTCTCACTT GTAGTCCCAGCTACTCAGGGGGTTGAGGTGGGAGGATCCCCTGAGCCAGG GGAGGTCAAGGCTGCAGTGAGGTGTGATCATGCTGCTGTACTCTAGCCTG GGTGACTGAGTGAGACCCTATCTCAAAAAATAATAATAATAACCCCATGA GGCAGTTCATATTAACCCATTTTACAAATAAGAAAACTGTCATGCAGAGA AATTCAGTAACTTGCTTAAGAACAATAAATCTAGTGAATGGTGAGTTCAA GTCCAGTCCTCTCCCTCCTAGGCCCTGGCTCTCTGTGTACCACTATCCTT CTTGGAAGCCAGGTGATGGCTGTGCCCAGCTTAAGGGACAGCCCCTCATC CCTGATCTTATTGTGCTTGGAGAAATGGACATCTCTACAGAATGTGCTAA GTGATAAGAGCTCTCTCCCAGGACACTATGAAAACCAGAGGACAGTATGC TCAGAATGGATTTTTTTTTTTTAAGAGGCTGGATCTCACTCTGTTGCCCA TGCTGGAGTGCAGTGGTATTATTGTAGCTCACTGCAGCCTCCAACTCCTG AGCTCAGTGATCCTCTTGCCCCATCTTCCAAAGTAGGAGGGATTACAGAC ATGCACCACCACACCTGGTTAATTTTTTTTCTTCTTTCTTTTAGAGAGAG AGTCTTGCTATGTAGCCCAGGCTGGTCCCAAACTCCTGGCCTCAAGTGAT CCACCTGCTTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCATAT AATGCTAACACTTTTTTTTCTTGTATTTTTCGGTACAGATGGGGTTTTTC CATGTTGCCAGGCTGATCTTGTACTCCTGAGCTCCGGCAATCCACTCACC TAGGCATCCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCATCTGGCC AGCCCAGAATCAATTTTTATCATAAGTTATTTGGATACAGATGACTTCAT TAAAAAAAAAAAGCAGCATTAATTCATGTATAAATAGTGATCCTGGGTCA AGAACTCAAAATTTCTATTTTAACTTATGCAAAAAAGCCTCCAAAGCCTC ATAAAAACATCTTACTGTGACTTTATGAAAATATTTTACACGTAAGAACT GGTTTATAAAAATACAAATCAGAAATGACTGATCCTTACATTTATCTCAG CTGAAGTTCCAACATTTCTTCAGTAATGGCCCCCTGACACCCTCCTACCT GAGGAGCTAGGAGGGGAGATTACATGATTGACACACCAGAGCACCAATGG GAAAACTGTTTGCTCAGGTACATCTGTGTTAGTAAGAAAGGATCCTTAAC CCCAAACTTACTTAACTAGTTCTGCAGAATTAAAAAACGTAAAACTATTA GTCCCTTTGCTTATTTTTGTTTGAGCTCGCCTACTGCAAGACCACAGAAG TGTACTTCCTCTGACAATTAACTTTTTAAATTCCCAATGTTCTTTAATCT TGAAACGAGTTGTATTTAGCCCTGGACAAAGGCTACTGCTTCTTAGTGGT GTGAGAGGATATTTACCAAAGTCTTTTCCGGTCCAATCATGTCTCGGATG ATTTGGCATCTTCGCATGTCATCCTGGAGATCAGCACCCACCTTTACTTT AAACCTAGAAAATGCATTTGGTTTGCTAGTTTAGACCTGTACCTGGACTT GGCAAGGGCATCTGGAGTTTCTGCAGAAGTGACCGTCTCTGTCAACAATT CACAGATATGTTTTTTAGTAACCTCTTGCTCTTTCCTCATCTTCAGATAA GTCACTTGAAATAAACCTGGGAACTTTATCTCTTCATTCAGTATCAGGGC AATGACTCTCAATTATCTGCTGACCTGGAGTTAAGGAGCTAGACAGGGAA GTCAGGTCTTTAATATAATTAACTCCGTTTTTGCCGGGCCATGAAAAGGA ATTAAGAACAAAAAAGCCACAGTGAGAACTGAAGAGGAGAGCGGGGCTGA AAAGGGGTGCCGAGTAAGCCACACTGTGATAGACTGAATGGAAAGGGTCT GGTTTACAAAGGAGAGCTTTGTCTTGAATTAACTCAGTGAGAGGAAGGCC ACAGGGATGGTCTGTCCCCTGCAGTGCAGGGGCCTGAGGTTCCGGGAGGG AAAGTGATGAGATCAGGTAACTAGGGAATAGCAGAGTGCGGCTGGAGCCT CCGTGCAGAGGTCTCCTTTACACCACATCCAGACACTTGTAGGGAGCTCC TTAATCTCTGTGGATGTCCAGCTGTTCTCTTGAGACATGGGCCTCTATGT CCACACCCTATGACTCTGCTGTCAGAAGAGTGTGTTGCTGGCCTCAGTGT GGGCACTGGCAGGTGGAGGAGGGGACACCACCACGGGGAGGCCAGCATCT GCCCCCTCGAACAGCAGCCTACCCTCCCTGTGCGCCTCCTTGGCTGAGGT CCCCCTGCTGCTTTGCAAAGAGCCCCAGCTTGCAGAGTGCCGCACATTCT CAGGCACCTGCTGTTCTCTTCTGTACCAGCTGGAGGCTTCAACTACATGA TCCGTGATGCTCCAGAGAGGGTGGCTGGCCTTAGGCTCTGGGTGCCAGGC TTCCTGTGCTGGGAAGAGACCCTTTAAATCTCCCCACAGCCTTCTCTGAC TCACCAGATACACTGCTGCAGCCTCCCCCGGGTATGCAGAGGGAGGGCAA ACAGCACTTACAGCAGCTGCTCTGAATCCTGCCCTGTGCTGGTCCTTCTG AGATATGGCAACTTGGAGGAGGACCAAAGCTCATATTATTTCTACTGAGA GAAAATGAAGTTCAGAGAGGTTGAGTAATTGATCACACAGCAAGTACTTG CAGCGGATGAGGGGAAAAGGCAAGATGTGATTTCAGTTCTATCAGATGCC AACACCTCTTTCCGCGGCTTCATGCTGCCTCCTTCAAGTTCTCACTCCTC AAGCCTTTATTTAGCTGAGGCATTAACAAGAATTCAGTGCCTCTCCAACT TAAGAACGCATAGGAATCACTAGGGGATCTTGTTCCAATGCAGATTCCCA GGCAGCGGGTCTGGGGAGAGGCCCAGGCTGCATTTCTCACAAGCTCCCAG GTGATGCTGGAGCTCCTGCTCCACAGGACACACTGAGTAGCAGGAGGCTC AGAGACCAGAGTGGCTGCAAGTCAGATAGGAAGCCTGGTGACATGTCACA GGCAAAAAGTGCCACCGTGAGCTGTGCTGAGGGACACACAGTGACTGGGT CAAAAGAGATGATGGTCCCTCTGCATCCTGCCCTGTTTCAGGATGCAGGG TCATCAACCATCGAGGTTCATCCAGAGAAGGTCTTAGGATGGCCAGAGGT CTTTACCTGCACAGGCGAGAGTCAGAAGGGAGAAGTGCAGATGAGCAGTG TGGAAAGGAGGTGGCCTGGAGGGAGAGGAGGGCACTCAAGTGGAAGAGGA ACAGCCTGGCTCTTGGGAACTGGGACCTCTGGCTGGAAATTACATGGAAG CAAAGGGTTGCTGATATTAAAGACCCACCTGGCTGGGTGCAGTGGCTCAC GCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGG TCAGGAGTTCAGGACCAGCCTGATCAACATAGCGAAACCCTGTCTCTATT AAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGTCTGTAATCCCAGC TGCTAGGGAGGCTGAGGCAGGAGAATGGCTTGAATCCGGGAGGTGGAGCT TGCACTGAGCCGAGATTGCGCCACTGCACTCCAGTCTGGGTGACGAGAGT GAAACTTCATCTCAAAAAAAAAAAAGAGAAGAAAAGACCCACCTAATACT CAAAGCCCTCAAAGAATGGAAAGTGCCTCACCAAGTTAAGCTCGCTGCCT CTGGAGATGTTCATGCAGAAACTGAATCAACGCTGTTACTGACAGTAAAG ACTGGATTTCTACTCTAGGTTAGTGCCCGAAATAAACAATCTCCCAAGCC TCTTTCAACTCTGATGGCCTATAATTCTAATGAGGACTCACATCCTGCCT TTAGAGAAAGAGCCTGGCCTAAGGGGAAACTTCTCTTATGCATCCCTATG AGCCAGGGGGATCCTAGCCCGTGGGTGCCTTTTACTCCTTGGCTCCCTGC CAGGAGAGACTTACTGCCTGAGTCTCTCCTGCCGCCAACTGGGAAAGTCA GGTCCATCATCACACTCACCTGGTCCAGCCATCCTTCAGCGCCTGGGCAC AGAGCTGTGGGAAAGGAGCACAGGGTCACACACTGGAGAGAGCCCCTTGG TCTGACCAGGAAGTCAGTCATTGCTGATCTGTTTCACAAGCATTACGGTT ATAGCATAGACCAGAGTAACACCCATGTGTTGTTGAAATTAACAGCAGAA ACAGCCTGGCTGACAGAGATCACTTTTTACTTGTAGGGTGACTTTCTTTC CTCATCTCTATGGGAACCATTTTTTTAATGGTCACAACCTTCCCGGAAGG GGAAGATAGCACTGATCTCTCTCTTTTTAAAGCTAGAATATTCTGTGGCA TCCATAGAATGAGTGGATATAAGAGTAACATGCAGAAGCCAGCCTCTCTC TCCACTCTCTAGAAGTGGGCACAGTGTAAGGAGAAACAGTAATAAATCCA CCATGTGCCGACTGCATGCCATGTGCCAGCCATGGTGCCTTGAGCATGAC GCAACTTACAGCATGTATCTGAATCCTCAAAACCACCCCATGAAATAGGC ATTACTTCTCAATCTCGCAGTGGGTCTACCGCTGGTGCTGCCCAGGAATC TTACCCTAGGCTGTCACCTTCCAGAGCCCAAGGTGACTCACTAAGTCACA GAGTCCTGCGGTCCACAAAATGAATGGCTTTGCATTTGCTTGTGTACTTT CAGAACGAGGGCTTGGATCCAAAATAATTTTTTTGTTGTTTTTTGAGACG GACTCTTGTTCTGTCACCCAGGTTGGAGGGCAGTGGCGTGATCTCGGCTC ATTGCAACCCCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCC TGAGTGGCTGGGACTACAGATACGCATTACCACGCCCAGATAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAA CTTCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTAGGAT TATAGGCGTGAGCCACTGCCCTCAGCCAAAATGATTTAGAGAGGTGAACA GGAAAGTATTAAATTTCTCCCAGAGAGGCTGGAATCAAAAGCCCATGTGA CATAAGAAGGAATATATATTTTGTCTCTGCCCCCATCGCTGCCCCCCTAT TTCCTAACACACAACACACAGCCCCTAAAACCCTTGGCATCTCCTGAGTG ATAGGAGTGTCTTTTGTACGTGAACGAGAGAGCCCTGCTGAGGTCCCCTA CGTAGCTTCAGGACGGGGCTGGGGACCAGAAAGACCTGAAAGGCATGATT GTGGGGTTGGAAACTTTAGCCTATTCCCAGATAGCTGGGGAGGCGAGGGG GCTGAAGGCTGAATTGATGGCCAATGGCCAAATAATGAATCACATCTAAA TACTGAAGCCTCCATAAAACCCCCAAGGAACAGGGTTCAGAGAGCTTCCA GGTTGGTGAACACGTGGAGGTACTGGGAGTGTGGCTCACCTGGAGGGGAC ATGGAAGCTCTGTACCCCCTCCTCACACCTTGCCCTGTGTGTCTCTTCAG TTTGGCTGTTCTTAAGTTGCATCCTTTATAATAAATGAGTAAACATAAGT AGTGTTTCCCTGAATTCCGTGAGCCATTCCACCAAATGATTCAACTCAAA GCGGGGTTTGTGGGAACCTCTAATCTGAGGCAAAGCCAGTCAGAAGCACA GGTGACAACGTGGACTTGTGACTGGCATCTGCCATAGGGCAGTCCTGTAA GACTGAGCCCTTAACCTGTGGGGTCTGAGGCTAGTTCCAGGTATGTGCTG TCAGAATTGAGTAAAATAGCAGGACACCCAGTTGGTGTCCACAGAGAAGT GGAGAACTGGTTGGCGTGAGAAGGAAAACCACACACATCTGGTGTCAGAA GTGAGGTACTGAGAGTAGTGGTATGAGGACAGAAGGAAAAACAGGTTGGT TTCTCCCCATTCAGCTGTCTACAAAGCCAGGTTAAAATGCCCACCTGCTT CAACGTGTCATCTGAGTACCCCAGCCAGGCGCACGATGTCGTGTAAGCAG GGTATCCTTGTGCCAGCATTTGCTTCTCTGTGAAAACACAGCGCCGTCAA CA	G G	exon_loss_variant exon_loss_variant	HIGH	NA18967.hp2 NA19083.hp2 NA18967.hp2 NA19083.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0191 a0006c0009t0001g0275 a0006c0009t0001g0191 a0006c0009t0001g0275	2	416	0.0048	-9051	c.536 others(15): Show c.536-25_876+1640del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	11/16						chr18	TogoVar
ERV3-1_chr7_64985356_65011687	64992360	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01928.hp2 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02293.hp1 HG02523.hp1 HG02717.hp2 HG02735.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0019 a0003c0003 a0008c0019	a0003c0003t0001 a0008c0019t0001 a0003c0003t0001 a0008c0019t0001	a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 others(12): Show a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 a0003c0003t0001g0030 a0003c0003t0001g0042 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0092 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0115 a0003c0003t0001g0116 a0008c0019t0001g0105	63	456	0.1382	0	c.667 others(3): Show c.667C>T	p.Arg others(4): Show p.Arg223*	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding	2/2	1202/3206	667/1815	223/604			chr7	TogoVar
FAM166B_chr9_35556831_35568878	35562396	A A	ATAGT ATAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0005 a0002c0003 a0003c0004 a0003c0005	a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0005t0001	a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0002g0019 a0003c0004t0001g0006 a0003c0005t0001g0009	87	434	0.2005	4	c.719 others(11): Show c.719_722dupACTA	p.Tyr others(5): Show p.Tyr241fs	FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	5/6	772/1054	722/828	241/275			chr9	TogoVar
FAM187B_chr19_35219800_35233739	35228117	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0005 a0002c0006 others(3): Show a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0009 a0007c0014	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0002c0009t0001 a0007c0014t0001	a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0006t0001g0007 a0002c0006t0001g0032 a0002c0008t0001g0014 a0002c0009t0001g0022 a0002c0009t0001g0031 a0007c0014t0001g0026	126	448	0.2813	0	c.564 others(3): Show c.564G>A	p.Trp others(4): Show p.Trp188*	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding	1/2	623/1194	564/1110	188/369			chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132583017	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG01261.hp2 HG01361.hp2 others(7): Show HG00438.hp2 HG01261.hp2 HG01361.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02647.hp2 NA18966.hp1 NA18967.hp2 NA19067.hp2	a0005 a0018 a0022 others(4): Show a0005 a0018 a0022 a0027 a0032 a0035 a0047	a0005c0051 a0018c0033 a0018c0060 others(6): Show a0005c0051 a0018c0033 a0018c0060 a0022c0057 a0022c0058 a0027c0059 a0032c0041 a0035c0042 a0047c0040	a0005c0051t0015 a0018c0033t0001 a0018c0060t0001 others(6): Show a0005c0051t0015 a0018c0033t0001 a0018c0060t0001 a0022c0057t0008 a0022c0058t0006 a0027c0059t0001 a0032c0041t0002 a0035c0042t0002 a0047c0040t0002	a0005c0051t0015g0041 a0018c0033t0001g0244 a0018c0033t0001g0277 others(7): Show a0005c0051t0015g0041 a0018c0033t0001g0244 a0018c0033t0001g0277 a0018c0060t0001g0006 a0022c0057t0008g0067 a0022c0058t0006g0108 a0027c0059t0001g0308 a0032c0041t0002g0214 a0035c0042t0002g0216 a0047c0040t0002g0210	10	346	0.0289	1	c.225 others(5): Show c.2253dupC	p.Ala others(5): Show p.Ala752fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	2674/4839	2254/3009	752/1002		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132583509	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00597.hp2 HG00642.hp1 others(41): Show HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02615.hp1 HG02809.hp1 HG03195.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18975.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19067.hp1 NA19090.hp1	a0004 a0005 a0011 others(10): Show a0004 a0005 a0011 a0012 a0013 a0014 a0018 a0024 a0025 a0032 a0034 a0042 a0044	a0004c0015 a0004c0020 a0004c0030 others(20): Show a0004c0015 a0004c0020 a0004c0030 a0004c0062 a0004c0067 a0004c0069 a0005c0052 a0011c0009 a0012c0023 a0012c0036 a0013c0034 a0013c0064 a0013c0065 a0013c0066 a0014c0016 a0018c0033 a0018c0060 a0024c0029 a0025c0039 a0032c0041 a0034c0043 a0042c0085 a0044c0077	a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 others(28): Show a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 a0004c0015t0023 a0004c0020t0007 a0004c0030t0012 a0004c0062t0041 a0004c0067t0003 a0004c0069t0003 a0005c0052t0005 a0011c0009t0001 a0011c0009t0002 a0012c0023t0001 a0012c0036t0001 a0012c0036t0002 a0013c0034t0004 a0013c0034t0005 a0013c0064t0006 a0013c0065t0013 a0013c0066t0003 a0014c0016t0001 a0018c0033t0001 a0018c0060t0001 a0024c0029t0001 a0024c0029t0002 a0025c0039t0004 a0025c0039t0017 a0032c0041t0002 a0034c0043t0008 a0042c0085t0004 a0044c0077t0001	a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 others(41): Show a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 a0004c0015t0023g0026 a0004c0020t0007g0123 a0004c0020t0007g0280 a0004c0020t0007g0294 a0004c0030t0012g0142 a0004c0030t0012g0144 a0004c0062t0041g0139 a0004c0067t0003g0036 a0004c0069t0003g0031 a0005c0052t0005g0090 a0011c0009t0001g0226 a0011c0009t0002g0158 a0011c0009t0002g0176 a0011c0009t0002g0221 a0011c0009t0002g0224 a0011c0009t0002g0228 a0012c0023t0001g0241 a0012c0023t0001g0285 a0012c0023t0001g0293 a0012c0036t0001g0307 a0012c0036t0002g0135 a0013c0034t0004g0113 a0013c0034t0005g0097 a0013c0064t0006g0106 a0013c0065t0013g0001 a0013c0066t0003g0035 a0014c0016t0001g0088 a0014c0016t0001g0256 a0014c0016t0001g0257 a0014c0016t0001g0300 a0018c0033t0001g0244 a0018c0033t0001g0277 a0018c0060t0001g0006 a0024c0029t0001g0163 a0024c0029t0002g0192 a0025c0039t0004g0321 a0025c0039t0017g0328 a0032c0041t0002g0214 a0034c0043t0008g0174 a0042c0085t0004g0318 a0044c0077t0001g0058	44	346	0.1272	1	c.274 others(5): Show c.2745dupC	p.Ala others(5): Show p.Ala916fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	3166/4839	2746/3009	916/1002		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGF22_chr19_634879_649373	643527	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(26): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG01106.hp2 HG01175.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02145.hp1 HG02615.hp1 HG02897.hp2 HG03654.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18950.hp1 NA18953.hp1 NA18967.hp2 NA18979.hp1 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0034 others(15): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0002t0001g0101 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0039 a0002c0002t0002g0077 a0002c0002t0003g0011 a0002c0002t0007g0008 a0002c0002t0008g0104 a0002c0002t0009g0016	29	431	0.0673	1	c.444 others(4): Show c.444dupG	p.Pro others(5): Show p.Pro149fs	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	3/3	492/1329	445/513	149/170		INFO_REALIGN_3_PRIME	chr19	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
FKBP14_chr7_30005587_30031702	30022817	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0053 a0003c0004t0001g0053	1	324	0.0031	0	c.198 others(5): Show c.198-1G>T		FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	1/3						chr7	TogoVar
FKBP14_chr7_30005587_30031702	30022818	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0053 a0003c0004t0001g0053	1	324	0.0031	0	c.198 others(5): Show c.198-2A>G		FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	1/3						chr7	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
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.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 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.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.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.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 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0013 a0011c0014 a0012c0012 a0014c0020 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0022 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0013t0001 a0011c0014t0006 a0012c0012t0002 a0014c0020t0001 a0015c0021t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0059 a0001c0001t0010g0001 a0001c0001t0010g0013 a0001c0001t0013g0012 a0001c0001t0013g0048 a0001c0001t0013g0055 a0001c0001t0018g0066 a0001c0001t0019g0074 a0001c0001t0020g0076 a0001c0001t0021g0032 a0001c0015t0003g0049 a0001c0015t0003g0061 a0001c0015t0003g0068 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0026 a0002c0002t0004g0028 a0002c0002t0004g0030 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0152 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0125 a0002c0002t0005g0134 a0002c0002t0025g0028 a0002c0019t0004g0003 a0003c0003t0001g0157 a0003c0003t0002g0002 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0014g0002 a0003c0016t0002g0019 a0003c0016t0002g0161 a0004c0005t0003g0004 a0004c0005t0003g0027 a0004c0005t0003g0038 a0004c0005t0003g0112 a0004c0005t0003g0113 a0004c0005t0003g0116 a0004c0005t0003g0117 a0004c0005t0003g0120 a0004c0005t0003g0127 a0004c0008t0002g0036 a0004c0008t0002g0093 a0004c0008t0002g0095 a0004c0008t0002g0097 a0004c0008t0002g0126 a0004c0008t0002g0145 a0004c0008t0022g0046 a0004c0009t0004g0016 a0004c0009t0004g0035 a0004c0009t0004g0094 a0004c0009t0004g0096 a0005c0004t0003g0011 a0005c0004t0003g0018 a0005c0004t0003g0041 a0005c0004t0003g0042 a0005c0004t0003g0043 a0005c0004t0003g0136 a0005c0004t0003g0137 a0005c0004t0003g0138 a0005c0004t0003g0139 a0005c0004t0003g0141 a0005c0004t0003g0142 a0005c0004t0003g0143 a0005c0004t0003g0144 a0005c0004t0003g0146 a0005c0004t0003g0148 a0005c0004t0003g0149 a0005c0004t0008g0017 a0005c0004t0008g0029 a0005c0004t0008g0140 a0005c0004t0008g0147 a0006c0006t0006g0007 a0006c0006t0006g0037 a0006c0006t0006g0098 a0006c0006t0006g0099 a0006c0006t0006g0100 a0006c0006t0006g0101 a0006c0006t0006g0102 a0006c0006t0006g0103 a0006c0006t0006g0104 a0006c0006t0006g0106 a0006c0006t0006g0107 a0006c0006t0006g0108 a0006c0006t0006g0109 a0006c0006t0011g0007 a0006c0006t0011g0105 a0006c0006t0016g0025 a0009c0011t0002g0023 a0009c0011t0002g0092 a0010c0013t0001g0021 a0011c0014t0006g0078 a0011c0014t0006g0082 a0011c0014t0006g0083 a0012c0012t0002g0024 a0014c0020t0001g0164 a0015c0021t0002g0002	348	364	0.9560	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535			chr1	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0002 a0005 a0022 others(2): Show a0002 a0005 a0022 a0025 a0027	a0002c0002 a0002c0016 a0002c0040 others(5): Show a0002c0002 a0002c0016 a0002c0040 a0005c0006 a0005c0038 a0022c0039 a0025c0027 a0027c0043	a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 others(9): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 a0002c0002t0019 a0002c0016t0002 a0002c0040t0002 a0005c0006t0002 a0005c0006t0008 a0005c0038t0022 a0022c0039t0017 a0025c0027t0002 a0027c0043t0008	a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 others(9): Show a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 a0002c0002t0019g0000 a0002c0016t0002g0000 a0002c0040t0002g0000 a0005c0006t0002g0000 a0005c0006t0008g0000 a0005c0038t0022g0000 a0022c0039t0017g0000 a0025c0027t0002g0000 a0027c0043t0008g0000	108	450	0.2400	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439			chr9	TogoVar
FPGT_chr1_74193242_74213702	74198327	C C	T T	stop_gained stop_gained	HIGH	NA18967.hp2 NA18990.hp2 NA18967.hp2 NA18990.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	2	378	0.0053	0	c.49C others(2): Show c.49C>T	p.Gln others(3): Show p.Gln17*	FPGT	ENSG00000254685.8	transcript	ENST00000370898.9	protein_coding	1/4	86/4692	49/1785	17/594			chr1	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0210 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0159 a0002c0002t0004g0184 a0002c0002t0004g0202 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0168 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0160 a0002c0014t0003g0167 a0002c0017t0001g0076 a0002c0021t0001g0177 a0002c0022t0001g0179 a0005c0011t0001g0077 a0005c0011t0001g0078	147	428	0.3435	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574			chr22	TogoVar
GCKR_chr2_27491839_27528684	27498324	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	322	0.0031	0	c.354 others(5): Show c.354+1G>A		GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	4/18						chr2	TogoVar
GDPD4_chr11_77211558_77306686	77243743	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0008	a0003c0003 a0004c0004 a0006c0006 others(1): Show a0003c0003 a0004c0004 a0006c0006 a0008c0010	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0004c0004t0006 a0006c0006t0006 a0008c0010t0003	a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0342 a0003c0003t0003g0009 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0009g0036 a0003c0003t0009g0061 a0003c0003t0012g0069 a0004c0004t0006g0204 a0004c0004t0006g0205 a0004c0004t0006g0208 a0006c0006t0006g0206 a0006c0006t0006g0207 a0008c0010t0003g0086	84	348	0.2414	1	c.119 others(5): Show c.1191dupT	p.Ile others(5): Show p.Ile398fs	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/17	1526/2617	1191/1563	397/520			chr11	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0018 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0008t0003 a0001c0008t0007 a0001c0009t0001 a0001c0009t0006 a0001c0012t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0139 a0001c0004t0011g0163 a0001c0004t0012g0007 a0001c0004t0012g0010 a0001c0004t0012g0130 a0001c0004t0012g0177 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0017g0015 a0001c0004t0017g0055 a0001c0004t0018g0152 a0001c0004t0029g0118 a0001c0004t0030g0149 a0001c0004t0031g0117 a0001c0004t0032g0004 a0001c0004t0033g0006 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0009t0001g0112 a0001c0009t0006g0081 a0001c0012t0002g0115	89	208	0.4279	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
GJB5_chr1_34750047_34763512	34757288	TGTTCTTG others(10): Show TGTTCTTGTTTCCCTGCA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18612.hp1 NA18946.hp2 NA18967.hp1 others(1): Show NA18612.hp1 NA18946.hp2 NA18967.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	4	466	0.0086	-17	c.-24 others(27): Show c.-24-16_-24delTCTTGTTTCCCTGCAGT		GJB5	ENSG00000189280.3	transcript	ENST00000338513.1	protein_coding	2/2				24	INFO_REALIGN_3_PRIME	chr1	TogoVar
GLUD1_chr10_87045202_87099843	87051843	T T	TATACTTC others(51): Show TATACTTCATGGCTGTGCGCATAATTTGCTGAAATGAAAGAGAAAATGCA GTGAAGATG	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0170 a0005c0009t0001g0170	1	332	0.0030	58	c.155 others(70): Show c.1558-31_1584dupCATCTTCACTGCATTTTCTCTTTCATTTCAGCA AATTATGCGCACAGCCATGAAGTAT	p.Asn others(5): Show p.Asn529fs	GLUD1	ENSG00000148672.10	transcript	ENST00000277865.5	protein_coding	13/13	1658/3300	1584/1677	528/558			chr10	TogoVar
GMIP_chr19_19624476_19648657	19637409	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show HG00609.hp1 HG01099.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02145.hp1 HG03688.hp2 HG03927.hp1 HG04199.hp2 NA18966.hp1 NA18967.hp2 NA18977.hp2 NA18985.hp2 NA18992.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0009 others(1): Show a0002c0002 a0002c0008 a0002c0009 a0002c0016	a0002c0002t0001 a0002c0002t0002 a0002c0008t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0008t0001 a0002c0009t0001 a0002c0009t0002 a0002c0016t0001	a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0062 others(12): Show a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0062 a0002c0002t0001g0080 a0002c0002t0001g0089 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0165 a0002c0002t0002g0055 a0002c0002t0002g0152 a0002c0002t0002g0184 a0002c0008t0001g0041 a0002c0009t0001g0061 a0002c0009t0002g0159 a0002c0016t0001g0130	21	414	0.0507	1	c.107 others(5): Show c.1079dupC	p.Pro others(5): Show p.Pro361fs	GMIP	ENSG00000089639.11	transcript	ENST00000203556.9	protein_coding	11/21	1207/3528	1079/2913	360/970			chr19	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535014	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0010 others(10): Show a0001 a0007 a0010 a0011 a0016 a0017 a0019 a0020 a0024 a0030 a0034 a0035 a0036	a0001c0001 a0001c0010 a0001c0031 others(19): Show a0001c0001 a0001c0010 a0001c0031 a0001c0032 a0001c0034 a0001c0043 a0007c0006 a0007c0047 a0010c0014 a0010c0015 a0011c0012 a0011c0026 a0016c0017 a0017c0036 a0017c0037 a0019c0021 a0020c0035 a0024c0051 a0030c0033 a0034c0041 a0035c0042 a0036c0038	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0010t0001 a0001c0031t0001 a0001c0032t0001 a0001c0034t0001 a0001c0043t0001 a0007c0006t0001 a0007c0006t0004 a0007c0006t0024 a0007c0047t0013 a0010c0014t0007 a0010c0015t0009 a0011c0012t0007 a0011c0026t0007 a0016c0017t0004 a0017c0036t0001 a0017c0037t0001 a0019c0021t0007 a0020c0035t0018 a0024c0051t0004 a0030c0033t0001 a0034c0041t0001 a0035c0042t0001 a0036c0038t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0004g0006 a0001c0001t0004g0062 a0001c0001t0004g0086 a0001c0001t0012g0072 a0001c0001t0015g0070 a0001c0001t0016g0071 a0001c0001t0017g0087 a0001c0001t0020g0074 a0001c0010t0001g0010 a0001c0031t0001g0068 a0001c0032t0001g0073 a0001c0034t0001g0076 a0001c0043t0001g0081 a0007c0006t0001g0107 a0007c0006t0004g0027 a0007c0006t0004g0105 a0007c0006t0004g0109 a0007c0006t0004g0116 a0007c0006t0024g0108 a0007c0047t0013g0115 a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 a0011c0012t0007g0012 a0011c0026t0007g0051 a0016c0017t0004g0083 a0016c0017t0004g0084 a0017c0036t0001g0066 a0017c0037t0001g0067 a0019c0021t0007g0033 a0020c0035t0018g0082 a0024c0051t0004g0117 a0030c0033t0001g0060 a0034c0041t0001g0079 a0035c0042t0001g0080 a0036c0038t0001g0063	94	212	0.4434	0	c.142 others(4): Show c.1420G>T	p.Glu others(4): Show p.Glu474*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1511/4013	1420/2175	474/724			chr15	TogoVar
GOLGA8S_chr15_23349748_23373341	23364403	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG01074.hp2 HG01081.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp2 HG02015.hp1 HG02040.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18987.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2	a0002 a0012 a0016 others(17): Show a0002 a0012 a0016 a0020 a0023 a0024 a0025 a0028 a0031 a0038 a0047 a0050 a0053 a0072 a0073 a0078 a0080 a0083 a0084 a0086	a0002c0002 a0002c0086 a0002c0087 others(23): Show a0002c0002 a0002c0086 a0002c0087 a0002c0088 a0002c0090 a0012c0010 a0016c0017 a0020c0020 a0023c0033 a0023c0069 a0024c0035 a0025c0038 a0028c0072 a0028c0092 a0031c0024 a0038c0040 a0047c0076 a0050c0045 a0053c0099 a0072c0077 a0073c0100 a0078c0080 a0080c0058 a0083c0104 a0084c0102 a0086c0103	a0002c0002t0001 a0002c0002t0020 a0002c0086t0001 others(24): Show a0002c0002t0001 a0002c0002t0020 a0002c0086t0001 a0002c0087t0024 a0002c0088t0001 a0002c0090t0001 a0012c0010t0001 a0016c0017t0001 a0020c0020t0001 a0023c0033t0001 a0023c0069t0001 a0024c0035t0001 a0025c0038t0001 a0028c0072t0001 a0028c0092t0001 a0031c0024t0001 a0038c0040t0001 a0047c0076t0001 a0050c0045t0001 a0053c0099t0001 a0072c0077t0001 a0073c0100t0001 a0078c0080t0001 a0080c0058t0001 a0083c0104t0001 a0084c0102t0001 a0086c0103t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0018 others(60): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0049 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0137 a0002c0002t0001g0161 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0020g0020 a0002c0086t0001g0166 a0002c0087t0024g0004 a0002c0088t0001g0053 a0002c0090t0001g0018 a0012c0010t0001g0058 a0012c0010t0001g0218 a0012c0010t0001g0265 a0012c0010t0001g0266 a0016c0017t0001g0004 a0016c0017t0001g0047 a0016c0017t0001g0186 a0020c0020t0001g0004 a0020c0020t0001g0053 a0020c0020t0001g0192 a0023c0033t0001g0197 a0023c0033t0001g0268 a0023c0069t0001g0153 a0024c0035t0001g0046 a0025c0038t0001g0204 a0025c0038t0001g0207 a0028c0072t0001g0198 a0028c0092t0001g0008 a0031c0024t0001g0177 a0031c0024t0001g0178 a0038c0040t0001g0048 a0047c0076t0001g0200 a0050c0045t0001g0020 a0053c0099t0001g0187 a0072c0077t0001g0213 a0073c0100t0001g0194 a0078c0080t0001g0214 a0080c0058t0001g0209 a0083c0104t0001g0018 a0084c0102t0001g0047 a0086c0103t0001g0189	78	428	0.1822	0	c.144 others(4): Show c.1447G>T	p.Glu others(4): Show p.Glu483*	GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	16/19	1509/5186	1447/1917	483/638			chr15	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 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 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 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.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 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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 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 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.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 HG04199.hp1 HG04199.hp2 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 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	425	446	0.9529	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333			chr14	TogoVar
H2BW2_chrX_104034956_104047454	104040193	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0008 a0002c0002 a0002c0006 a0005c0008	a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0005c0008t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0002g0001 a0002c0006t0001g0001 a0005c0008t0001g0001	112	330	0.3394	0	c.199 others(3): Show c.199C>T	p.Gln others(3): Show p.Gln67*	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	238/870	199/447	67/148			chrX	TogoVar
HIBCH_chr2_190198920_190324826	190319749	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19010.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0009 a0003c0003 a0003c0004 a0003c0009	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(8): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0020 a0003c0004t0005 a0003c0009t0003	a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0005g0011 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0005g0176 a0003c0003t0005g0177 a0003c0003t0005g0178 a0003c0003t0005g0180 a0003c0003t0005g0184 a0003c0003t0005g0185 a0003c0003t0005g0186 a0003c0003t0005g0187 a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 a0003c0003t0005g0191 a0003c0003t0005g0192 a0003c0003t0005g0193 a0003c0003t0005g0194 a0003c0003t0005g0196 a0003c0003t0005g0198 a0003c0003t0005g0199 a0003c0003t0007g0016 a0003c0003t0007g0026 a0003c0003t0007g0036 a0003c0003t0007g0042 a0003c0003t0009g0059 a0003c0003t0009g0060 a0003c0003t0013g0048 a0003c0003t0014g0173 a0003c0003t0017g0200 a0003c0003t0020g0346 a0003c0004t0005g0181 a0003c0004t0005g0182 a0003c0004t0005g0183 a0003c0009t0003g0079	103	366	0.2814	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/14	78/2434	2/1161	1/386			chr2	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0012	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0012c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0012c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0053 a0005c0019t0004g0055 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0052 a0012c0013t0011g0013 a0012c0013t0011g0054	102	400	0.2550	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261			chr6	TogoVar
HLA-G_chr6_29822825_29836021	29829546	C C	T T	stop_gained stop_gained	HIGH	NA18967.hp1 NA18967.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0001 a0013c0015t0001g0001	1	478	0.0021	0	c.748 others(3): Show c.748C>T	p.Gln others(4): Show p.Gln250*	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding	4/7	768/1319	748/1017	250/338			chr6	TogoVar
HYAL4_chr7_123840169_123882481	123868274	A A	G G	start_lost start_lost	HIGH	HG00544.hp2 HG01123.hp2 HG01192.hp1 others(27): Show HG00544.hp2 HG01123.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 NA18942.hp2 NA18946.hp2 NA18949.hp2 NA18964.hp1 NA18967.hp1 NA18972.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA19002.hp2 NA19070.hp2 NA19078.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0013 others(1): Show a0002c0002 a0002c0005 a0002c0013 a0002c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0013t0001 a0002c0014t0003	a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(19): Show a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0048 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0233 a0002c0002t0001g0237 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0002g0066 a0002c0002t0002g0238 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0005t0001g0016 a0002c0005t0001g0025 a0002c0005t0001g0235 a0002c0013t0001g0218 a0002c0014t0003g0025	30	392	0.0765	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	3/5	639/2410	1/1446	1/481			chr7	TogoVar
ICAM5_chr19_10284952_10301778	10293783	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01515.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA18944.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18981.hp1 NA18987.hp1 NA18994.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0008 a0003c0012 others(4): Show a0003c0005 a0003c0008 a0003c0012 a0003c0019 a0004c0006 a0004c0007 a0004c0016	a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 others(4): Show a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 a0003c0019t0001 a0004c0006t0001 a0004c0007t0001 a0004c0016t0001	a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 others(13): Show a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 a0003c0008t0001g0004 a0003c0008t0001g0005 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0039 a0003c0012t0001g0009 a0003c0019t0001g0001 a0004c0006t0001g0002 a0004c0006t0001g0016 a0004c0007t0001g0002 a0004c0007t0001g0007 a0004c0007t0001g0019 a0004c0016t0001g0002	35	429	0.0816	1	c.155 others(5): Show c.1555dupG	p.Val others(5): Show p.Val519fs	ICAM5	ENSG00000105376.5	transcript	ENST00000221980.5	protein_coding	7/11	1648/3029	1556/2775	519/924		INFO_REALIGN_3_PRIME	chr19	TogoVar
IDO2_chr8_39929651_40021392	40015416	T T	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02683.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG06807.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 others(14): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 a0003c0003t0020 a0003c0003t0022 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0004c0004t0021 a0005c0005t0002 a0005c0005t0003 a0005c0005t0005 a0005c0005t0009 a0005c0005t0010 a0005c0005t0019	a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0003g0105 a0003c0003t0003g0119 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0266 a0003c0003t0003g0275 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0283 a0003c0003t0003g0289 a0003c0003t0003g0293 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0303 a0003c0003t0003g0317 a0003c0003t0003g0321 a0003c0003t0003g0322 a0003c0003t0003g0337 a0003c0003t0003g0348 a0003c0003t0003g0349 a0003c0003t0003g0350 a0003c0003t0003g0356 a0003c0003t0010g0104 a0003c0003t0010g0183 a0003c0003t0010g0186 a0003c0003t0010g0225 a0003c0003t0010g0228 a0003c0003t0010g0231 a0003c0003t0010g0244 a0003c0003t0010g0246 a0003c0003t0020g0037 a0003c0003t0022g0072 a0004c0004t0002g0038 a0004c0004t0002g0054 a0004c0004t0002g0077 a0004c0004t0003g0120 a0004c0004t0003g0122 a0004c0004t0003g0123 a0004c0004t0003g0201 a0004c0004t0003g0203 a0004c0004t0003g0276 a0004c0004t0003g0280 a0004c0004t0003g0355 a0004c0004t0005g0103 a0004c0004t0009g0195 a0004c0004t0009g0260 a0004c0004t0009g0267 a0004c0004t0009g0270 a0004c0004t0010g0190 a0004c0004t0010g0213 a0004c0004t0010g0237 a0004c0004t0010g0238 a0004c0004t0021g0007 a0005c0005t0002g0001 a0005c0005t0002g0020 a0005c0005t0002g0028 a0005c0005t0002g0030 a0005c0005t0002g0039 a0005c0005t0002g0046 a0005c0005t0002g0062 a0005c0005t0002g0069 a0005c0005t0003g0150 a0005c0005t0003g0290 a0005c0005t0003g0310 a0005c0005t0003g0312 a0005c0005t0003g0346 a0005c0005t0005g0129 a0005c0005t0009g0194 a0005c0005t0010g0220 a0005c0005t0010g0221 a0005c0005t0010g0222 a0005c0005t0019g0082	106	358	0.2961	0	c.103 others(4): Show c.1038T>A	p.Tyr others(4): Show p.Tyr346*	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	11/11	1623/2599	1038/1224	346/407			chr8	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	456	0.4254	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189			chr9	TogoVar
IFNE_chr9_21475839_21487313	21481484	G G	A A	stop_gained stop_gained	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp2 HG01358.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03017.hp1 HG03471.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18944.hp2 NA18948.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	61	448	0.1362	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	IFNE	ENSG00000184995.7	transcript	ENST00000448696.4	protein_coding	1/1	830/1475	211/627	71/208			chr9	TogoVar
KDM4F_chr11_95044422_95056338	95050082	G G	T T	stop_gained stop_gained	HIGH	HG00544.hp1 HG01192.hp1 NA18963.hp2 others(11): Show HG00544.hp1 HG01192.hp1 NA18963.hp2 NA18967.hp2 NA18981.hp2 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA19004.hp2 NA19062.hp2 NA19065.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	14	438	0.0320	0	c.661 others(3): Show c.661G>T	p.Glu others(4): Show p.Glu221*	KDM4F	ENSG00000255855.4	transcript	ENST00000711328.1	protein_coding	1/1	661/1917	661/1917	221/638			chr11	TogoVar
KIAA0513_chr16_85022795_85099218	85071765	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0066 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0091 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0109 a0001c0005t0019 a0001c0010t0002	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0240 others(103): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0240 a0001c0001t0001g0258 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0065 a0001c0001t0002g0103 a0001c0001t0002g0178 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0006g0002 a0001c0001t0006g0016 a0001c0001t0006g0042 a0001c0001t0006g0107 a0001c0001t0006g0133 a0001c0001t0006g0295 a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0316 a0001c0001t0011g0018 a0001c0001t0011g0321 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0012g0284 a0001c0001t0012g0299 a0001c0001t0012g0305 a0001c0001t0012g0312 a0001c0001t0020g0100 a0001c0001t0021g0315 a0001c0001t0022g0195 a0001c0001t0026g0235 a0001c0001t0028g0263 a0001c0001t0028g0272 a0001c0001t0029g0277 a0001c0001t0029g0311 a0001c0001t0032g0006 a0001c0001t0032g0255 a0001c0001t0034g0318 a0001c0001t0034g0319 a0001c0001t0041g0208 a0001c0001t0043g0025 a0001c0001t0043g0038 a0001c0001t0044g0101 a0001c0001t0044g0102 a0001c0001t0047g0247 a0001c0001t0048g0293 a0001c0001t0050g0309 a0001c0001t0051g0290 a0001c0001t0052g0002 a0001c0001t0054g0229 a0001c0001t0056g0230 a0001c0001t0066g0231 a0001c0001t0070g0044 a0001c0001t0071g0226 a0001c0001t0072g0296 a0001c0001t0073g0238 a0001c0001t0074g0253 a0001c0001t0077g0251 a0001c0001t0091g0261 a0001c0001t0101g0207 a0001c0001t0102g0018 a0001c0001t0103g0209 a0001c0001t0109g0027 a0001c0005t0019g0099 a0001c0010t0002g0220	111	385	0.2883	1	c.330 others(6): Show c.330-3dupT		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
KIF25_chr6_167992671_168050091	168029510	C C	CTGACATG others(69): Show CTGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCCTGG GTCTGGAGCCGTCCTGGCCTTCCCAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.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 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0003 a0001c0006 others(20): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0019 a0001c0022 a0002c0002 a0002c0015 a0003c0004 a0004c0005 a0005c0007 a0005c0024 a0006c0008 a0008c0012 a0009c0013 a0010c0011 a0012c0014 a0013c0020 a0015c0016 a0016c0023 a0017c0025 a0018c0021 a0019c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0026 a0001c0003t0029 a0001c0003t0037 a0001c0003t0051 a0001c0006t0002 a0001c0006t0005 a0001c0006t0019 a0001c0010t0023 a0001c0019t0018 a0001c0022t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0030 a0002c0002t0040 a0002c0002t0046 a0002c0002t0052 a0002c0002t0053 a0002c0015t0003 a0003c0004t0001 a0003c0004t0005 a0003c0004t0010 a0003c0004t0021 a0003c0004t0044 a0003c0004t0047 a0004c0005t0004 a0004c0005t0015 a0005c0007t0010 a0005c0007t0020 a0005c0024t0002 a0006c0008t0016 a0008c0012t0001 a0008c0012t0010 a0009c0013t0016 a0009c0013t0018 a0010c0011t0001 a0010c0011t0005 a0012c0014t0010 a0013c0020t0001 a0015c0016t0003 a0016c0023t0005 a0017c0025t0001 a0018c0021t0001 a0019c0017t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0008g0286 a0001c0001t0009g0050 a0001c0001t0009g0057 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0010g0256 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0156 a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0013g0237 a0001c0001t0018g0272 a0001c0001t0021g0033 a0001c0001t0021g0105 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0032g0294 a0001c0001t0038g0362 a0001c0001t0039g0147 a0001c0001t0041g0208 a0001c0001t0042g0260 a0001c0003t0004g0016 a0001c0003t0004g0031 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0056 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0129 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0009g0062 a0001c0003t0011g0040 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0184 a0001c0003t0026g0233 a0001c0003t0029g0332 a0001c0003t0029g0354 a0001c0003t0037g0238 a0001c0003t0051g0092 a0001c0006t0002g0262 a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0138 a0001c0006t0019g0139 a0001c0006t0019g0140 a0001c0010t0023g0352 a0001c0010t0023g0353 a0001c0019t0018g0271 a0001c0022t0010g0257 a0002c0002t0001g0231 a0002c0002t0001g0240 a0002c0002t0003g0010 a0002c0002t0003g0022 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0162 a0002c0002t0003g0319 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0005g0340 a0002c0002t0005g0350 a0002c0002t0005g0351 a0002c0002t0011g0065 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0013g0180 a0002c0002t0013g0246 a0002c0002t0013g0247 a0002c0002t0013g0248 a0002c0002t0022g0100 a0002c0002t0022g0101 a0002c0002t0030g0080 a0002c0002t0030g0083 a0002c0002t0040g0082 a0002c0002t0046g0337 a0002c0002t0052g0034 a0002c0002t0053g0029 a0002c0015t0003g0135 a0003c0004t0001g0177 a0003c0004t0001g0199 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0005g0009 a0003c0004t0005g0017 a0003c0004t0005g0329 a0003c0004t0005g0330 a0003c0004t0005g0331 a0003c0004t0005g0334 a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0338 a0003c0004t0005g0339 a0003c0004t0005g0341 a0003c0004t0005g0342 a0003c0004t0005g0344 a0003c0004t0005g0345 a0003c0004t0005g0346 a0003c0004t0005g0347 a0003c0004t0005g0348 a0003c0004t0005g0349 a0003c0004t0005g0357 a0003c0004t0005g0359 a0003c0004t0005g0360 a0003c0004t0010g0018 a0003c0004t0021g0103 a0003c0004t0044g0333 a0003c0004t0047g0358 a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0122 a0004c0005t0004g0123 a0004c0005t0004g0137 a0004c0005t0015g0163 a0004c0005t0015g0164 a0005c0007t0010g0019 a0005c0007t0020g0023 a0005c0007t0020g0024 a0005c0007t0020g0026 a0005c0024t0002g0261 a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0008c0012t0001g0250 a0008c0012t0010g0258 a0009c0013t0016g0168 a0009c0013t0018g0273 a0010c0011t0001g0186 a0010c0011t0005g0363 a0012c0014t0010g0255 a0013c0020t0001g0241 a0015c0016t0003g0093 a0016c0023t0005g0343 a0017c0025t0001g0229 a0018c0021t0001g0202 a0019c0017t0002g0315	335	371	0.9030	76	c.7_8 others(80): Show c.7_82dupTGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCC TGGGTCTGGAGCCGTCCTGGCCTTCCCAGATGACA	p.Lys others(4): Show p.Lys28fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1881/3048	83/1155	28/384		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIR2DL3_chr19_54733513_54758052	54752517	T T	A A	stop_lost stop_lost	HIGH	HG02145.hp1 HG02976.hp2 HG03130.hp2 others(6): Show HG02145.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 NA18952.hp1 NA18967.hp2 NA19003.hp1 NA19066.hp1 NA21309.hp1	a0007 a0012 a0015 others(2): Show a0007 a0012 a0015 a0020 a0021	a0007c0006 a0012c0010 a0015c0014 others(2): Show a0007c0006 a0012c0010 a0015c0014 a0020c0016 a0021c0015	a0007c0006t0005 a0012c0010t0006 a0015c0014t0011 others(2): Show a0007c0006t0005 a0012c0010t0006 a0015c0014t0011 a0020c0016t0010 a0021c0015t0009	a0007c0006t0005g0044 a0007c0006t0005g0045 a0007c0006t0005g0046 others(6): Show a0007c0006t0005g0044 a0007c0006t0005g0045 a0007c0006t0005g0046 a0007c0006t0005g0047 a0012c0010t0006g0041 a0012c0010t0006g0043 a0015c0014t0011g0059 a0020c0016t0010g0040 a0021c0015t0009g0042	9	312	0.0288	0	c.102 others(4): Show c.1024T>A	p.Ter others(11): Show p.Ter342Argext*?	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding	8/8	1057/1592	1024/1026	342/341			chr19	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0150 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0007t0001g0072 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0006g0152	250	446	0.5605	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5						chr19	TogoVar
KMT2D_chr12_49013978_49065794	49040685	GGAGAAGG others(4): Show GGAGAAGGTGCC	G G	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0032 a0032	a0032c0057 a0032c0057	a0032c0057t0002 a0032c0057t0002	a0032c0057t0002g0153 a0032c0057t0002g0153	1	300	0.0033	-11	c.707 others(20): Show c.7074_7084delGGCACCTTCTC	p.Leu others(6): Show p.Leu2358fs	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	32/55	8303/20635	7074/16614	2358/5537			chr12	TogoVar
KMT2D_chr12_49013978_49065794	49042142	G G	T T	stop_gained stop_gained	HIGH	NA18967.hp1 NA18967.hp1	a0032 a0032	a0032c0057 a0032c0057	a0032c0057t0002 a0032c0057t0002	a0032c0057t0002g0153 a0032c0057t0002g0153	1	300	0.0033	0	c.605 others(4): Show c.6056C>A	p.Ser others(5): Show p.Ser2019*	KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	29/55	7275/20635	6056/16614	2019/5537			chr12	TogoVar
KRT24_chr17_40692991_40708752	40701882	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(200): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0001c0013 a0001c0014 others(3): Show a0001c0001 a0001c0013 a0001c0014 a0001c0015 a0009c0012 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0009c0012t0001 a0011c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0013t0001g0068 a0001c0014t0002g0072 a0001c0015t0001g0080 a0009c0012t0001g0129 a0009c0012t0001g0130 a0011c0016t0001g0122	203	422	0.4810	-1	c.666 others(4): Show c.666delT	p.Asn others(5): Show p.Asn222fs	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/8	725/1883	666/1578	222/525			chr17	TogoVar
KRT37_chr17_41415547_41429585	41422807	G G	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20905.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0020 a0008c0009 a0002c0002 a0002c0020 a0008c0009	a0002c0002t0002 a0002c0020t0002 a0008c0009t0002 a0002c0002t0002 a0002c0020t0002 a0008c0009t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0020t0002g0037 a0008c0009t0002g0015	102	408	0.2500	0	c.703 others(3): Show c.703C>T	p.Gln others(4): Show p.Gln235*	KRT37	ENSG00000108417.4	transcript	ENST00000225550.4	protein_coding	3/7	765/1743	703/1350	235/449			chr17	TogoVar
KRT77_chr12_52684626_52708524	52691379	G G	C C	stop_gained stop_gained	HIGH	NA18967.hp2 NA18970.hp2 NA18967.hp2 NA18970.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0038 a0014c0014t0001g0038	2	418	0.0048	0	c.152 others(4): Show c.1523C>G	p.Ser others(4): Show p.Ser508*	KRT77	ENSG00000189182.10	transcript	ENST00000341809.8	protein_coding	9/9	1613/3366	1523/1737	508/578			chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41041247	G G	A A	stop_gained stop_gained	HIGH	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19067.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0012 a0002c0002 a0002c0006 a0002c0012	a0002c0002t0001 a0002c0006t0001 a0002c0012t0001 a0002c0002t0001 a0002c0006t0001 a0002c0012t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0012t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0012t0001g0000	78	402	0.1940	0	c.151 others(3): Show c.151C>T	p.Gln others(3): Show p.Gln51*	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding	1/1	204/910	151/534	51/177			chr17	TogoVar

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