Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AATK_chr17_81112295_81171221	81119470	C C	CGGGCGT CGGGCGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp1 HG00558.hp1 HG00597.hp1 others(17): Show HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG01255.hp2 HG01884.hp1 HG02080.hp1 HG02451.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp2 HG03688.hp2 HG03710.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0006 a0012 a0026 others(2): Show a0006 a0012 a0026 a0027 a0033	a0006c0012 a0006c0013 a0006c0017 others(7): Show a0006c0012 a0006c0013 a0006c0017 a0006c0042 a0006c0056 a0006c0069 a0012c0016 a0026c0034 a0027c0054 a0033c0037	a0006c0012t0001 a0006c0012t0008 a0006c0013t0001 others(8): Show a0006c0012t0001 a0006c0012t0008 a0006c0013t0001 a0006c0017t0002 a0006c0042t0001 a0006c0056t0001 a0006c0069t0001 a0012c0016t0001 a0026c0034t0002 a0027c0054t0001 a0033c0037t0002	a0006c0012t0001g0143 a0006c0012t0001g0222 a0006c0012t0008g0103 others(15): Show a0006c0012t0001g0143 a0006c0012t0001g0222 a0006c0012t0008g0103 a0006c0012t0008g0246 a0006c0013t0001g0002 a0006c0013t0001g0220 a0006c0017t0002g0088 a0006c0017t0002g0120 a0006c0017t0002g0122 a0006c0042t0001g0335 a0006c0056t0001g0332 a0006c0069t0001g0340 a0012c0016t0001g0165 a0012c0016t0001g0167 a0012c0016t0001g0179 a0026c0034t0002g0308 a0027c0054t0001g0221 a0033c0037t0002g0315	20	363	0.0551	6	c.398 others(15): Show c.3988_3993dupACGCCC	p.Pro others(21): Show p.Pro1331_Ala1332insThrPro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/14	4222/5461	3993/4125	1331/1374		chr17	TogoVar
ACAN_chr15_88798436_88880353	88855507	T T	TGGGCTTC others(50): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00741.hp2 HG03942.hp1 HG04115.hp1 others(1): Show HG00741.hp2 HG03942.hp1 HG04115.hp1 NA20752.hp1	a0045 a0076 a0077 others(1): Show a0045 a0076 a0077 a0090	a0045c0127 a0076c0157 a0077c0122 others(1): Show a0045c0127 a0076c0157 a0077c0122 a0090c0136	a0045c0127t0001 a0076c0157t0001 a0077c0122t0001 others(1): Show a0045c0127t0001 a0076c0157t0001 a0077c0122t0001 a0090c0136t0001	a0045c0127t0001g0349 a0076c0157t0001g0130 a0077c0122t0001g0287 others(1): Show a0045c0127t0001g0349 a0076c0157t0001g0130 a0077c0122t0001g0287 a0090c0136t0001g0266	4	313	0.0128	57	c.323 others(66): Show c.3238_3294dupACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACC	p.Thr others(15): Show p.Thr1080_Thr1098dup	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3676/8960	3295/7707	1099/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855507	T T	TGGGCTTC others(107): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGA GTAGAGGACATCAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp1 HG00280.hp1	a0043 a0043	a0043c0133 a0043c0133	a0043c0133t0001 a0043c0133t0001	a0043c0133t0001g0312 a0043c0133t0001g0312	1	310	0.0032	114	c.318 others(123): Show c.3181_3294dupACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACC	p.Thr others(15): Show p.Thr1061_Thr1098dup	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3676/8960	3295/7707	1099/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	C C	CGCTGCCC others(50): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01168.hp1 NA18965.hp2 HG01168.hp1 NA18965.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0217 a0007c0012t0001g0175 a0001c0001t0001g0217 a0007c0012t0001g0175	2	142	0.0141	57	c.415 others(66): Show c.4150_4206dupGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACT	p.Ala others(15): Show p.Ala1384_Thr1402dup	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4588/8960	4207/7707	1403/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856698	C C	CATCAGCG others(107): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAG TAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCC CCTGGAGTAGAGGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01361.hp1 HG01361.hp1	a0046 a0046	a0046c0132 a0046c0132	a0046c0132t0001 a0046c0132t0001	a0046c0132t0001g0094 a0046c0132t0001g0094	1	365	0.0027	114	c.420 others(123): Show c.4206_4207insGCTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACT	p.Thr others(129): Show p.Thr1402_Thr1403insAlaAlaProGlyValGluGluIleSerGly LeuProSerGlyGluValLeuGluThrAlaAlaProGlyValGluAspIl eSerGlyLeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4588/8960	4207/7707	1403/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856755	C C	CATCAGCG others(50): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAG TAGAGGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03654.hp2 NA18612.hp1 HG03654.hp2 NA18612.hp1	a0001 a0073 a0001 a0073	a0001c0009 a0073c0113 a0001c0009 a0073c0113	a0001c0009t0001 a0073c0113t0001 a0001c0009t0001 a0073c0113t0001	a0001c0009t0001g0247 a0073c0113t0001g0255 a0001c0009t0001g0247 a0073c0113t0001g0255	2	361	0.0055	57	c.420 others(66): Show c.4206_4207insGCTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACT	p.Thr others(72): Show p.Thr1402_Thr1403insAlaAlaProGlyValGluGluIleSerGly LeuProSerGlyGluValLeuGluThr	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4588/8960	4207/7707	1403/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856983	C C	CATCAGCG others(50): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAG TAGAGGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19080.hp1 NA19080.hp1	a0088 a0088	a0088c0114 a0088c0114	a0088c0114t0001 a0088c0114t0001	a0088c0114t0001g0177 a0088c0114t0001g0177	1	366	0.0027	57	c.439 others(66): Show c.4398_4399insATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACT GCTGCCCCTGGAGTAGAGGAG	p.Asp others(72): Show p.Asp1466_Leu1467insIleSerGlyLeuProSerGlyGluValLeu GluThrAlaAlaProGlyValGluGlu	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4780/8960	4399/7707	1467/2568		chr15	TogoVar
ACIN1_chr14_23053564_23100136	23079578	C C	CGTGAAT CGTGAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00738.hp2 HG00741.hp1 others(24): Show HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03453.hp2 HG03927.hp2 HG04228.hp2 NA18906.hp1 NA20905.hp1	a0003 a0004 a0003 a0004	a0003c0022 a0004c0006 a0004c0008 a0003c0022 a0004c0006 a0004c0008	a0003c0022t0001 a0004c0006t0001 a0004c0008t0002 others(1): Show a0003c0022t0001 a0004c0006t0001 a0004c0008t0002 a0004c0008t0004	a0003c0022t0001g0098 a0004c0006t0001g0004 a0004c0006t0001g0015 others(19): Show a0003c0022t0001g0098 a0004c0006t0001g0004 a0004c0006t0001g0015 a0004c0006t0001g0016 a0004c0006t0001g0097 a0004c0006t0001g0099 a0004c0006t0001g0100 a0004c0006t0001g0186 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0192 a0004c0006t0001g0305 a0004c0008t0002g0179 a0004c0008t0002g0180 a0004c0008t0002g0181 a0004c0008t0002g0182 a0004c0008t0002g0184 a0004c0008t0002g0185 a0004c0008t0002g0187 a0004c0008t0002g0188 a0004c0008t0002g0191 a0004c0008t0004g0183	27	348	0.0776	6	c.175 others(15): Show c.1756_1757insATTCAC	p.Ser others(19): Show p.Ser585_Arg586insHisSer	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1780/4460	1756/3852	586/1283		chr14	TogoVar
ACOT9_chrX_23696055_23748276	23730535	C C	CTGTCAAG others(5): Show CTGTCAAGATCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18981.hp1 NA18981.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0238 a0005c0005t0001g0238	1	307	0.0033	12	c.380 others(19): Show c.380_391dupAGGATCTTGACA	p.Asp others(25): Show p.Asp130_Ser131insLysAspLeuAsp	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	6/16	523/4318	391/1347	131/448		chrX	TogoVar
ADAM22_chr7_87929251_88207889	88128624	T T	TAGA TAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp1 HG03471.hp1 HG02615.hp1 HG03471.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0007 a0007c0007t0003 a0007c0007t0007	a0007c0007t0003g0040 a0007c0007t0007g0185 a0007c0007t0003g0040 a0007c0007t0007g0185	2	228	0.0088	3	c.709 others(10): Show c.709_711dupGAA	p.Glu others(6): Show p.Glu237dup	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	9/32	927/9508	712/2895	238/964	INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM29_chr4_174913358_174983180	174977937	G G	GCAACCTC others(47): Show GCAACCTCAGTTGATGCCTTCCCAGGGTCAACCTCCTGTGACGCCCTCCT AGAGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02886.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02886.hp1 HG02895.hp1 HG02897.hp1 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0024 a0005c0005t0002g0223 a0005c0005t0002g0225 a0005c0005t0002g0024 a0005c0005t0002g0223 a0005c0005t0002g0225	4	327	0.0122	54	c.243 others(63): Show c.2436_2437insGGTCAACCTCCTGTGACGCCCTCCTAGAGCCAACCT CAGTTGATGCCTTCCCAG	p.Gln others(67): Show p.Gln812_Ser813insGlyGlnProProValThrProSerTerSerGl nProGlnLeuMetProSerGln	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	3107/3325	2437/2463	813/820	INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAMTS19_chr5_129455298_129743683	129461622	T T	TCCCGGC TCCCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp1 HG00544.hp1 HG00597.hp2 others(55): Show HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG01106.hp1 HG01243.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18968.hp2 NA18972.hp2 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0010 others(1): Show a0002c0002 a0002c0004 a0002c0010 a0002c0020	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0016 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0010t0001 a0002c0020t0002	a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0062 others(55): Show a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0134 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0003g0066 a0002c0002t0006g0101 a0002c0002t0006g0106 a0002c0002t0006g0107 a0002c0002t0009g0111 a0002c0002t0011g0222 a0002c0002t0016g0089 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0097 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0112 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0004t0005g0098 a0002c0010t0001g0096 a0002c0020t0002g0194	58	224	0.2589	6	c.622 others(13): Show c.622_627dupGGCCCC	p.Gly others(13): Show p.Gly208_Pro209dup	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	2/23	722/5201	628/3642	210/1213	INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345228	G G	GGCGGCGG others(14): Show GGCGGCGGCGGCGGCGGCAGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20129.hp2 NA20129.hp2	a0023 a0023	a0023c0082 a0023c0082	a0023c0082t0002 a0023c0082t0002	a0023c0082t0002g0197 a0023c0082t0002g0197	1	274	0.0036	21	c.80_ others(27): Show c.80_100dupTCCTGCCGCCGCCGCCGCCGC	p.Leu others(11): Show p.Leu27_Pro33dup	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	233/6783	100/3636	34/1211		chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345240	G G	GGCGGCAG others(2): Show GGCGGCAGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG01167.hp2 HG03453.hp2 HG00639.hp1 HG01167.hp2 HG03453.hp2	a0010 a0010	a0010c0085 a0010c0086 a0010c0087 a0010c0085 a0010c0086 a0010c0087	a0010c0085t0002 a0010c0086t0004 a0010c0087t0001 a0010c0085t0002 a0010c0086t0004 a0010c0087t0001	a0010c0085t0002g0202 a0010c0086t0004g0201 a0010c0087t0001g0200 a0010c0085t0002g0202 a0010c0086t0004g0201 a0010c0087t0001g0200	3	274	0.0109	9	c.80_ others(14): Show c.80_88dupTCCTGCCGC	p.Leu others(11): Show p.Leu27_Pro29dup	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	221/6783	88/3636	30/1211		chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345249	A A	AGCGGCAG others(5): Show AGCGGCAGGAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp2 HG02886.hp2	a0020 a0020	a0020c0113 a0020c0113	a0020c0113t0029 a0020c0113t0029	a0020c0113t0029g0276 a0020c0113t0029g0276	1	274	0.0036	12	c.79_ others(17): Show c.79_80insCGCTCCTGCCGC	p.Pro others(23): Show p.Pro26_Leu27insProLeuLeuPro	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	212/6783	79/3636	27/1211		chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345258	G G	GGCA GGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00609.hp1 HG00621.hp1 others(69): Show HG00408.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18966.hp2 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18995.hp1 NA18998.hp2 NA19030.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0002 a0006 a0021 a0002 a0006 a0021	a0002c0003 a0002c0005 a0002c0006 others(28): Show a0002c0003 a0002c0005 a0002c0006 a0002c0010 a0002c0016 a0002c0039 a0002c0093 a0002c0095 a0002c0096 a0002c0097 a0002c0098 a0002c0099 a0002c0100 a0002c0101 a0002c0102 a0002c0104 a0002c0105 a0002c0106 a0002c0107 a0002c0108 a0002c0109 a0002c0110 a0002c0111 a0002c0112 a0006c0038 a0006c0088 a0006c0089 a0006c0090 a0006c0091 a0006c0092 a0021c0094	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(36): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0005t0003 a0002c0005t0009 a0002c0006t0001 a0002c0006t0004 a0002c0010t0003 a0002c0010t0009 a0002c0016t0002 a0002c0016t0015 a0002c0039t0002 a0002c0039t0007 a0002c0093t0001 a0002c0095t0001 a0002c0096t0002 a0002c0097t0021 a0002c0098t0004 a0002c0099t0001 a0002c0100t0002 a0002c0101t0002 a0002c0102t0001 a0002c0104t0027 a0002c0105t0012 a0002c0106t0002 a0002c0107t0011 a0002c0108t0008 a0002c0109t0012 a0002c0110t0002 a0002c0111t0004 a0002c0112t0001 a0006c0038t0002 a0006c0038t0019 a0006c0088t0003 a0006c0089t0006 a0006c0090t0016 a0006c0091t0002 a0006c0092t0004 a0021c0094t0003	a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0230 others(69): Show a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0254 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0268 a0002c0003t0001g0274 a0002c0003t0002g0244 a0002c0003t0002g0269 a0002c0003t0004g0236 a0002c0003t0004g0252 a0002c0003t0004g0267 a0002c0005t0003g0222 a0002c0005t0003g0229 a0002c0005t0003g0245 a0002c0005t0003g0249 a0002c0005t0003g0261 a0002c0005t0003g0262 a0002c0005t0003g0265 a0002c0005t0003g0273 a0002c0005t0009g0238 a0002c0006t0001g0232 a0002c0006t0001g0233 a0002c0006t0001g0241 a0002c0006t0001g0247 a0002c0006t0001g0260 a0002c0006t0001g0264 a0002c0006t0004g0228 a0002c0006t0004g0270 a0002c0006t0004g0275 a0002c0010t0003g0237 a0002c0010t0003g0239 a0002c0010t0003g0242 a0002c0010t0003g0256 a0002c0010t0003g0257 a0002c0010t0009g0255 a0002c0016t0002g0220 a0002c0016t0002g0234 a0002c0016t0002g0263 a0002c0016t0015g0251 a0002c0039t0002g0204 a0002c0039t0007g0210 a0002c0093t0001g0271 a0002c0095t0001g0253 a0002c0096t0002g0246 a0002c0097t0021g0227 a0002c0098t0004g0272 a0002c0099t0001g0226 a0002c0100t0002g0248 a0002c0101t0002g0223 a0002c0102t0001g0250 a0002c0104t0027g0221 a0002c0105t0012g0208 a0002c0106t0002g0209 a0002c0107t0011g0212 a0002c0108t0008g0207 a0002c0109t0012g0203 a0002c0110t0002g0205 a0002c0111t0004g0211 a0002c0112t0001g0206 a0006c0038t0002g0214 a0006c0038t0019g0213 a0006c0088t0003g0215 a0006c0089t0006g0218 a0006c0090t0016g0216 a0006c0091t0002g0219 a0006c0092t0004g0217 a0021c0094t0003g0266	72	271	0.2657	3	c.68_ others(8): Show c.68_70dupTGC	p.Leu others(5): Show p.Leu23dup	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	203/6783	70/3636	24/1211		chr5	TogoVar
ADAMTS8_chr11_130399923_130433609	130428222	G G	GGCA GGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(30): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01361.hp1 HG01515.hp2 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp2 NA20300.hp1	a0004 a0004	a0004c0009 a0004c0011 a0004c0014 others(4): Show a0004c0009 a0004c0011 a0004c0014 a0004c0023 a0004c0024 a0004c0048 a0004c0049	a0004c0009t0002 a0004c0011t0002 a0004c0014t0002 others(6): Show a0004c0009t0002 a0004c0011t0002 a0004c0014t0002 a0004c0014t0003 a0004c0023t0009 a0004c0024t0009 a0004c0024t0011 a0004c0048t0002 a0004c0049t0002	a0004c0009t0002g0017 a0004c0009t0002g0018 a0004c0009t0002g0278 others(25): Show a0004c0009t0002g0017 a0004c0009t0002g0018 a0004c0009t0002g0278 a0004c0009t0002g0279 a0004c0009t0002g0280 a0004c0009t0002g0281 a0004c0009t0002g0282 a0004c0009t0002g0283 a0004c0009t0002g0284 a0004c0009t0002g0288 a0004c0009t0002g0289 a0004c0009t0002g0294 a0004c0011t0002g0285 a0004c0011t0002g0286 a0004c0011t0002g0291 a0004c0011t0002g0292 a0004c0011t0002g0293 a0004c0011t0002g0295 a0004c0011t0002g0296 a0004c0014t0002g0043 a0004c0014t0002g0287 a0004c0014t0003g0290 a0004c0023t0009g0046 a0004c0023t0009g0047 a0004c0024t0009g0049 a0004c0024t0011g0048 a0004c0048t0002g0297 a0004c0049t0002g0277	33	225	0.1467	3	c.62_ others(8): Show c.62_64dupTGC	p.Leu others(5): Show p.Leu21dup	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	387/3628	64/2670	22/889		chr11	TogoVar
ADPRHL1_chr13_113394611_113458488	113404063	G G	GTCTGCCT others(113): Show GTCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGC CCGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCT CTATGTGGGTCTGCTCCCGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01243.hp1 HG01496.hp2 others(5): Show HG01167.hp2 HG01243.hp1 HG01496.hp2 HG02258.hp2 HG02622.hp1 HG03516.hp2 NA19091.hp1 NA21309.hp2	a0002 a0027 a0030 a0002 a0027 a0030	a0002c0008 a0002c0018 a0002c0029 others(2): Show a0002c0008 a0002c0018 a0002c0029 a0027c0023 a0030c0030	a0002c0008t0027 a0002c0008t0028 a0002c0008t0029 others(5): Show a0002c0008t0027 a0002c0008t0028 a0002c0008t0029 a0002c0008t0031 a0002c0018t0026 a0002c0029t0025 a0027c0023t0030 a0030c0030t0032	a0002c0008t0027g0257 a0002c0008t0028g0196 a0002c0008t0029g0067 others(5): Show a0002c0008t0027g0257 a0002c0008t0028g0196 a0002c0008t0029g0067 a0002c0008t0031g0077 a0002c0018t0026g0009 a0002c0029t0025g0122 a0027c0023t0030g0137 a0030c0030t0032g0073	8	260	0.0308	120	c.521 others(129): Show c.5218_5219insGTCGGGAGCAGACCCACATAGAGGCTCAGGGTCAGG CCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGGGATCAGGGC TGGGAGCAGACCCAGATAGAGACTCAGAGGCAGA	p.Ala others(133): Show p.Ala1740delinsGlyArgGluGlnThrHisIleGluAlaGlnGlyGl nAlaGlnLysGlyAlaGlnGluTrpAlaArgAspArgAlaArgAspGlnG lyTrpGluGlnThrGlnIleGluThrGlnArgGlnThr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5269/9722	5218/5904	1740/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404072	C C	CGAGCCCG others(221): Show CGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTG GGTCTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGG TCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCC CGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTC TATGTGGGTCTGCTCCCGACCCTGTTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(103): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0002 a0006 a0007 others(6): Show a0002 a0006 a0007 a0010 a0011 a0015 a0017 a0022 a0028	a0002c0002 a0002c0003 a0002c0005 others(18): Show a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0021 a0002c0032 a0002c0034 a0002c0035 a0002c0037 a0002c0039 a0002c0041 a0006c0013 a0007c0016 a0010c0031 a0011c0026 a0015c0051 a0017c0028 a0022c0020 a0028c0017	a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 others(59): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0002t0019 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0003t0008 a0002c0003t0009 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0003t0084 a0002c0003t0085 a0002c0003t0088 a0002c0003t0089 a0002c0005t0012 a0002c0005t0023 a0002c0005t0090 a0002c0005t0091 a0002c0005t0092 a0002c0005t0093 a0002c0005t0095 a0002c0005t0096 a0002c0005t0097 a0002c0005t0098 a0002c0005t0099 a0002c0006t0013 a0002c0006t0101 a0002c0006t0103 a0002c0007t0012 a0002c0007t0094 a0002c0007t0100 a0002c0011t0003 a0002c0021t0003 a0002c0032t0087 a0002c0034t0002 a0002c0035t0081 a0002c0037t0038 a0002c0039t0073 a0002c0041t0002 a0006c0013t0024 a0007c0016t0002 a0010c0031t0086 a0011c0026t0002 a0015c0051t0105 a0017c0028t0066 a0022c0020t0067 a0028c0017t0002	a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 others(103): Show a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0162 a0002c0002t0002g0168 a0002c0002t0002g0187 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0205 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0002g0235 a0002c0002t0003g0023 a0002c0002t0003g0057 a0002c0002t0003g0084 a0002c0002t0003g0095 a0002c0002t0003g0138 a0002c0002t0003g0143 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0179 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0216 a0002c0002t0003g0238 a0002c0002t0018g0065 a0002c0002t0018g0220 a0002c0002t0019g0134 a0002c0002t0019g0158 a0002c0002t0061g0219 a0002c0002t0062g0068 a0002c0002t0063g0188 a0002c0002t0064g0064 a0002c0002t0065g0058 a0002c0002t0068g0172 a0002c0002t0069g0132 a0002c0002t0070g0120 a0002c0002t0071g0150 a0002c0002t0072g0072 a0002c0002t0074g0232 a0002c0002t0075g0146 a0002c0002t0076g0020 a0002c0002t0077g0170 a0002c0002t0078g0051 a0002c0002t0079g0186 a0002c0003t0008g0027 a0002c0003t0008g0105 a0002c0003t0008g0236 a0002c0003t0008g0251 a0002c0003t0008g0252 a0002c0003t0009g0035 a0002c0003t0009g0155 a0002c0003t0020g0189 a0002c0003t0020g0243 a0002c0003t0021g0247 a0002c0003t0021g0250 a0002c0003t0022g0191 a0002c0003t0022g0192 a0002c0003t0084g0249 a0002c0003t0085g0242 a0002c0003t0088g0248 a0002c0003t0089g0075 a0002c0005t0012g0074 a0002c0005t0023g0062 a0002c0005t0023g0071 a0002c0005t0090g0055 a0002c0005t0091g0112 a0002c0005t0092g0085 a0002c0005t0093g0080 a0002c0005t0095g0254 a0002c0005t0096g0253 a0002c0005t0097g0255 a0002c0005t0098g0063 a0002c0005t0099g0190 a0002c0006t0013g0056 a0002c0006t0013g0213 a0002c0006t0013g0241 a0002c0006t0101g0066 a0002c0006t0103g0246 a0002c0007t0012g0010 a0002c0007t0012g0011 a0002c0007t0094g0008 a0002c0007t0100g0013 a0002c0011t0003g0144 a0002c0011t0003g0145 a0002c0011t0003g0234 a0002c0021t0003g0173 a0002c0032t0087g0159 a0002c0034t0002g0050 a0002c0035t0081g0164 a0002c0037t0038g0061 a0002c0039t0073g0059 a0002c0041t0002g0083 a0006c0013t0024g0060 a0006c0013t0024g0230 a0007c0016t0002g0227 a0007c0016t0002g0229 a0010c0031t0086g0239 a0011c0026t0002g0245 a0015c0051t0105g0177 a0017c0028t0066g0018 a0022c0020t0067g0014 a0028c0017t0002g0007	106	250	0.4240	228	c.520 others(237): Show c.5209_5210insAGGAACAGGGTCGGGAGCAGACCCACATAGAGGCTC AGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGG GATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAA AGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAG AGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGGCTC	p.Ala others(243): Show p.Ala1736_Arg1737insGlnGluGlnGlyArgGluGlnThrHisIle GluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspAr gAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnT hrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThr HisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArgAla	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5260/9722	5209/5904	1737/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404072	C C	CGAGCCCG others(485): Show CGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTG GGTCTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGG TCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCC CGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTC TATGTGGGTCTGCTCCCGACCCTGTTCCTGAGCCCGTTCCTGAGCCCCTT TCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCC TGAGCCTCTATGTGGGTCTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTG AGCCCCTTTCTGGGTCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGC CCTGATCCCGAGCCCGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCC TGACCCTGAGCCTCTATGTGGGTCTGCTCCCGACCCTGTTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0165 a0002c0002t0080g0165	1	145	0.0069	492	c.520 others(501): Show c.5209_5210insAGGAACAGGGTCGGGAGCAGACCCACATAGAGGCTC AGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGG GATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAA AGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAG AGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGGCTCGGGAACAG GCCCAGAAAGGGGCTCAGGAACGGGCTCAGGAACAGGGTCGGGAGCAGAC CCACATAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTC GGGATCGGGCTCGGGATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAG AGGCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGA GCAGACCCACATAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAAC GGGCTC	p.Ala others(507): Show p.Ala1736_Arg1737insGlnGluGlnGlyArgGluGlnThrHisIle GluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspAr gAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnT hrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThr HisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArgAlaAr gGluGlnAlaGlnLysGlyAlaGlnGluArgAlaGlnGluGlnGlyArgG luGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGlu TrpAlaArgAspArgAlaArgAspGlnGlyTrpGluGlnThrGlnIleGl uThrGlnArgGlnThrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnG lyTrpGluGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAla GlnGluArgAla	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5260/9722	5209/5904	1737/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404072	C C	CGAGCCCG others(293): Show CGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTG AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGG CCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCAACCCTGTTCCCAAGCC CGTTCCTGAGCCCCTTTCTGGGTCTGCCTCTGAGTCTCTATCTGGGTCTG CTCCCAGCCCTGATCCCGAGCCCGATCCCGAGCCCATTCCTGAGCCCCTT TCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCGACCCTGTTCC T	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0102 a0002c0036t0102	a0002c0036t0102g0070 a0002c0036t0102g0070	1	145	0.0069	300	c.520 others(309): Show c.5209_5210insAGGAACAGGGTCGGGAGCAGACCCACATAGAGGCTC AGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGG GATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAA AGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAG AGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGGCTCGGGAACAG GCCCAGAAAGGGGCTCAGGAACGGGCTCGGGAACAGGCCCAGAAAGGGGC TCAGGAACGGGCTC	p.Ala others(315): Show p.Ala1736_Arg1737insGlnGluGlnGlyArgGluGlnThrHisIle GluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspAr gAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnT hrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThr HisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArgAlaAr gGluGlnAlaGlnLysGlyAlaGlnGluArgAlaArgGluGlnAlaGlnL ysGlyAlaGlnGluArgAla	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5260/9722	5209/5904	1737/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404075	G G	GCCCGTTC others(221): Show GCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTGGGT CTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCT GCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCCCGA TCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTAT GTGGGTCTGCTCCCGACCCTGTTCCTGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG01074.hp2 others(4): Show HG00099.hp2 HG00280.hp1 HG01074.hp2 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1	a0004 a0005 a0004 a0005	a0004c0009 a0005c0010 a0004c0009 a0005c0010	a0004c0009t0011 a0004c0009t0104 a0005c0010t0010 a0004c0009t0011 a0004c0009t0104 a0005c0010t0010	a0004c0009t0011g0116 a0004c0009t0011g0121 a0004c0009t0011g0171 others(4): Show a0004c0009t0011g0116 a0004c0009t0011g0121 a0004c0009t0011g0171 a0004c0009t0104g0211 a0005c0010t0010g0140 a0005c0010t0010g0141 a0005c0010t0010g0142	7	260	0.0269	228	c.520 others(237): Show c.5206_5207insTTCAGGAACAGGGTCGGGAGCAGACCCACATAGAGG CTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCT CGGGATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCA GAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACA TAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGG	p.Arg others(243): Show p.Arg1735_Ala1736insValGlnGluGlnGlyArgGluGlnThrHis IleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAs pArgAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgG lnThrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGln ThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5257/9722	5206/5904	1736/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404099	G G	GCCTGACC others(185): Show GCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCAACCCTGTTCCCAAGC CCGTTCCTGAGCCCCTTTCTGGGTCTGCCTCTGAGTCTCTATCTGGGTCT GCTCCCAGCCCTGATCCCGAGCCCGATCCCGAGCCCATTCCTGAGCCCCT TTCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	260	0.0038	192	c.518 others(201): Show c.5182_5183insGTCGGGAGCAGACCCACATAGAGGCTCAGGGTCAGG CCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGGGATCAGGGC TGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAAAGGGGCTCA GGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAGAGGCTCAGG GTCAGG	p.Gln others(207): Show p.Gln1727_Ala1728insGlyArgGluGlnThrHisIleGluAlaGln GlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspArgAlaArgAs pGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnThrGlnLysG lyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThrHisIleGlu AlaGlnGlyGln	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5233/9722	5182/5904	1728/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406670	C C	CAAG CAAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18999.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(13): Show a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0015 a0017 a0018 a0021 a0022 a0027 a0028 a0030	a0002c0002 a0002c0003 a0002c0005 others(33): Show a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0014 a0002c0018 a0002c0021 a0002c0029 a0002c0032 a0002c0034 a0002c0035 a0002c0036 a0002c0037 a0002c0039 a0002c0041 a0003c0012 a0003c0015 a0003c0040 a0003c0052 a0004c0009 a0005c0010 a0006c0013 a0007c0016 a0010c0031 a0011c0026 a0015c0051 a0017c0028 a0018c0025 a0021c0038 a0022c0020 a0027c0023 a0028c0017 a0030c0030	a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 others(84): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0002t0019 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0003t0008 a0002c0003t0009 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0003t0082 a0002c0003t0083 a0002c0003t0084 a0002c0003t0085 a0002c0003t0088 a0002c0003t0089 a0002c0005t0012 a0002c0005t0023 a0002c0005t0090 a0002c0005t0091 a0002c0005t0092 a0002c0005t0093 a0002c0005t0095 a0002c0005t0096 a0002c0005t0097 a0002c0005t0098 a0002c0005t0099 a0002c0006t0013 a0002c0006t0101 a0002c0006t0103 a0002c0007t0012 a0002c0007t0094 a0002c0007t0100 a0002c0008t0027 a0002c0008t0028 a0002c0008t0029 a0002c0008t0031 a0002c0011t0003 a0002c0014t0016 a0002c0014t0045 a0002c0018t0026 a0002c0021t0003 a0002c0029t0025 a0002c0032t0087 a0002c0034t0002 a0002c0035t0081 a0002c0036t0102 a0002c0037t0038 a0002c0039t0073 a0002c0041t0002 a0003c0012t0033 a0003c0012t0034 a0003c0012t0037 a0003c0015t0014 a0003c0040t0035 a0003c0052t0036 a0004c0009t0011 a0004c0009t0104 a0005c0010t0010 a0006c0013t0024 a0007c0016t0002 a0010c0031t0086 a0011c0026t0002 a0015c0051t0105 a0017c0028t0066 a0018c0025t0039 a0021c0038t0016 a0022c0020t0067 a0027c0023t0030 a0028c0017t0002 a0030c0030t0032	a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 others(135): Show a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0139 a0002c0002t0002g0162 a0002c0002t0002g0168 a0002c0002t0002g0187 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0205 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0002g0235 a0002c0002t0003g0023 a0002c0002t0003g0057 a0002c0002t0003g0084 a0002c0002t0003g0095 a0002c0002t0003g0138 a0002c0002t0003g0143 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0179 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0216 a0002c0002t0003g0238 a0002c0002t0018g0065 a0002c0002t0018g0220 a0002c0002t0019g0134 a0002c0002t0019g0158 a0002c0002t0061g0219 a0002c0002t0062g0068 a0002c0002t0063g0188 a0002c0002t0064g0064 a0002c0002t0065g0058 a0002c0002t0068g0172 a0002c0002t0069g0132 a0002c0002t0070g0120 a0002c0002t0071g0150 a0002c0002t0072g0072 a0002c0002t0074g0232 a0002c0002t0075g0146 a0002c0002t0076g0020 a0002c0002t0077g0170 a0002c0002t0078g0051 a0002c0002t0079g0186 a0002c0002t0080g0165 a0002c0003t0008g0027 a0002c0003t0008g0105 a0002c0003t0008g0236 a0002c0003t0008g0251 a0002c0003t0008g0252 a0002c0003t0009g0035 a0002c0003t0009g0119 a0002c0003t0009g0155 a0002c0003t0020g0189 a0002c0003t0020g0243 a0002c0003t0021g0247 a0002c0003t0021g0250 a0002c0003t0022g0191 a0002c0003t0022g0192 a0002c0003t0082g0030 a0002c0003t0083g0228 a0002c0003t0084g0249 a0002c0003t0085g0242 a0002c0003t0088g0248 a0002c0003t0089g0075 a0002c0005t0012g0074 a0002c0005t0023g0062 a0002c0005t0023g0071 a0002c0005t0090g0055 a0002c0005t0091g0112 a0002c0005t0092g0085 a0002c0005t0093g0080 a0002c0005t0095g0254 a0002c0005t0096g0253 a0002c0005t0097g0255 a0002c0005t0098g0063 a0002c0005t0099g0190 a0002c0006t0013g0056 a0002c0006t0013g0213 a0002c0006t0013g0241 a0002c0006t0101g0066 a0002c0006t0103g0246 a0002c0007t0012g0010 a0002c0007t0012g0011 a0002c0007t0094g0008 a0002c0007t0100g0013 a0002c0008t0027g0257 a0002c0008t0028g0196 a0002c0008t0029g0067 a0002c0008t0031g0077 a0002c0011t0003g0144 a0002c0011t0003g0145 a0002c0011t0003g0234 a0002c0014t0016g0147 a0002c0014t0045g0157 a0002c0018t0026g0009 a0002c0021t0003g0173 a0002c0029t0025g0122 a0002c0032t0087g0159 a0002c0034t0002g0050 a0002c0035t0081g0164 a0002c0036t0102g0070 a0002c0037t0038g0061 a0002c0039t0073g0059 a0002c0041t0002g0083 a0003c0012t0033g0078 a0003c0012t0034g0015 a0003c0012t0037g0069 a0003c0015t0014g0100 a0003c0015t0014g0102 a0003c0040t0035g0193 a0003c0052t0036g0153 a0004c0009t0011g0116 a0004c0009t0011g0121 a0004c0009t0011g0171 a0004c0009t0104g0211 a0005c0010t0010g0140 a0005c0010t0010g0141 a0005c0010t0010g0142 a0006c0013t0024g0060 a0006c0013t0024g0230 a0007c0016t0002g0227 a0007c0016t0002g0229 a0010c0031t0086g0239 a0011c0026t0002g0245 a0015c0051t0105g0177 a0017c0028t0066g0018 a0018c0025t0039g0260 a0021c0038t0016g0034 a0022c0020t0067g0014 a0027c0023t0030g0137 a0028c0017t0002g0007 a0030c0030t0032g0073	138	260	0.5308	3	c.260 others(12): Show c.2609_2611dupCTT	p.Pro others(16): Show p.Pro870_Cys871insSer	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2662/9722	2611/5904	871/1967		chr13	TogoVar
AGPAT2_chr9_136668143_136692457	136687306	C C	CCAG CCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp1 HG01069.hp2 HG01081.hp2 others(15): Show HG00609.hp1 HG01069.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG02738.hp1 HG03927.hp2 NA18969.hp2 NA18987.hp2 NA19067.hp1 NA19090.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 others(2): Show a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0007t0006	a0002c0002t0005g0027 a0002c0002t0005g0070 a0002c0002t0006g0025 others(12): Show a0002c0002t0005g0027 a0002c0002t0005g0070 a0002c0002t0006g0025 a0002c0002t0006g0057 a0002c0002t0006g0059 a0002c0002t0006g0062 a0002c0002t0006g0065 a0002c0002t0009g0026 a0002c0002t0009g0060 a0002c0002t0009g0063 a0002c0002t0009g0067 a0002c0002t0011g0058 a0002c0002t0011g0061 a0002c0002t0011g0064 a0002c0007t0006g0066	18	372	0.0484	3	c.49_ others(8): Show c.49_51dupCTG	p.Leu others(5): Show p.Leu17dup	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	1/6	151/1546	51/837	17/278		chr9	TogoVar
AHNAK2_chr14_104932253_104983374	104943884	T T	TGGGGCTG others(488): Show TGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGG GAGACTCACATCGGCCTCCACCTTGGGTGCAGACACGTGCACCGAGGCCT CAATGGACTTGCCTGGGGCAGACACCCCAAATGACGGCATCTTGAACTTG GGCATTTTGAATTTGCTGTCTTTGGCAGTCACATCCTTGTTGGCCAGGGA CAGGTCCCCCTCCAGCTGTGCACTATCCAGTTTGGCTCTTGGGGCCTGGA CGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACT TCCGCCTTGGAGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTG GGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCT TGGGCAGGTGCTCTTTGAGGCCGGCTCCCTCGGGCACCTGGCCCTCCGGG AGCTTCACATCCATCTGGCCAGCCTGGACCTTCAGGTCGGCAGAAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG02723.hp1 NA20129.hp2 HG02630.hp1 HG02723.hp1 NA20129.hp2	a0008 a0074 a0114 a0008 a0074 a0114	a0008c0010 a0074c0103 a0114c0101 a0008c0010 a0074c0103 a0114c0101	a0008c0010t0003 a0074c0103t0002 a0114c0101t0003 a0008c0010t0003 a0074c0103t0002 a0114c0101t0003	a0008c0010t0003g0127 a0074c0103t0002g0080 a0114c0101t0003g0251 a0008c0010t0003g0127 a0074c0103t0002g0080 a0114c0101t0003g0251	3	354	0.0085	495	c.115 others(506): Show c.11566_11567insCTTCTGCCGACCTGAAGGTCCAGGCTGGCCAGAT GGATGTGAAGCTCCCGGAGGGCCAGGTGCCCGAGGGAGCCGGCCTCAAAG AGCACCTGCCCAAGGTGGAGATGCCCAGTTTGAAGATGCCCAAAGTGGAC CTCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAAGCTGGACCTAAAAGT CTCCAAGGCGGAAGTCACAGCCCCTGATGTGGAGGTGTCTCTGCCCAGCG TGGAGGTGGACGTCCAGGCCCCAAGAGCCAAACTGGATAGTGCACAGCTG GAGGGGGACCTGTCCCTGGCCAACAAGGATGTGACTGCCAAAGACAGCAA ATTCAAAATGCCCAAGTTCAAGATGCCGTCATTTGGGGTGTCTGCCCCAG GCAAGTCCATTGAGGCCTCGGTGCACGTGTCTGCACCCAAGGTGGAGGCC GATGTGAGTCTCCCCTCCATGCAGGGGGACCTCAAGACCACTGACCTCAG CATTCAGCCCC	p.Pro others(510): Show p.Pro3855_His3856insProSerAlaAspLeuLysValGlnAlaGly GlnMetAspValLysLeuProGluGlyGlnValProGluGlyAlaGlyLe uLysGluHisLeuProLysValGluMetProSerLeuLysMetProLysV alAspLeuLysGlyProGlnValAspIleLysGlyProLysLeuAspLeu LysValSerLysAlaGluValThrAlaProAspValGluValSerLeuPr oSerValGluValAspValGlnAlaProArgAlaLysLeuAspSerAlaG lnLeuGluGlyAspLeuSerLeuAlaAsnLysAspValThrAlaLysAsp SerLysPheLysMetProLysPheLysMetProSerPheGlyValSerAl aProGlyLysSerIleGluAlaSerValHisValSerAlaProLysValG luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAsp LeuSerIleGlnPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	11703/18335	11566/17388	3856/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104945729	C C	CGATCTAC others(1973): Show CGATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTG CCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGT CCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTG ATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGC CTCCACCTTCGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTG GGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTG CTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAG CCGTGCACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGC CGGGCTGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCT TTCAGGTCCAGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATC TACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTT TGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACC TGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTC AGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCA CCTTCGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCA GACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC TTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTG CACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGC TGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAG GTCCAGCTTGGGGCCCTTGACATCTATCTGGGGTCCCTTGCGATCTACTT TGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGG CCAGCTCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCC AGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGG TCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC GGCGCAGACACATCCACCGAGACCTCAATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGTGCACCA TCCAGCTTTGCTCTCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGA CACCTCCACGTCGGGGGCCGTCACCTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATCTACTTTGGGC ATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGC TCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCT GGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC AGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCGGCGC AGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGA ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAA CTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCT CCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGATGTCTATCTGGGGGCCCTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02280.hp1 HG02922.hp1 HG03209.hp2 HG02280.hp1 HG02922.hp1 HG03209.hp2	a0033 a0065 a0033 a0065	a0033c0025 a0065c0088 a0033c0025 a0065c0088	a0033c0025t0001 a0065c0088t0001 a0033c0025t0001 a0065c0088t0001	a0033c0025t0001g0023 a0065c0088t0001g0096 a0033c0025t0001g0023 a0065c0088t0001g0096	3	353	0.0085	1980	c.972 others(1989): Show c.9721_9722insACAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGC TGGACCTGAAAGGCCCGAAGACGGACGTGACGGCCCCCGACGTGGAGGTG TCTCAGCCCGGCATGGAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGA TGGTGCACGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGGATGTGACTG CCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGG GTGTCTGCCCCAGGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCC GAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGA CCACTGACATCAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCT GGCCAGGTGGACCTGAAGCTCCCAGAGGGCCACGTTCCCGAGGGAGCTGG CCTCAAAGGGCACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCA AAGTAGATCACAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGAC CTGAAAGGCCCCAAGGCGGAGGTGACGGCCCCCGACGTGGAGGTGTCTCT GCCCAGCGTGGAGGTGGACGTCGAGGCCCCGAGAGCAAAGCTGGATGGTG CACGGCTGGAGGGTGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAA GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTC TGCCCCAGGCAAGTCCATTGAGGTCTCGGTGGATGTGTCTGCGCCGAAGG TGGAGGCCGAAGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGACCACT GACATCAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCA GGTGGACCTGAAGCTCCCAGAGGGCCACGTTCCCGAGGGAGCTGGCCTCA AAGGGCACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTA GATCGCAAGGGACCCCAGATAGATGTCAAGGGCCCCAAGCTGGACCTGAA AGGCCCGAAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCG GCATGGAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGG CTGGAGGGGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAG CAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCC CAGGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAG GCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACAT CAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGG ACGTGAAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGG CACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCA CAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGACCTGAAAGGCC CGAAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCGGCATG GAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGGCTGGA GGGGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAAGT TCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCCCAGGC AAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAGGCCGA CGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACATCAGCA TTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGGACGTG AAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGGCACCT GCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATC	p.Asp others(1995): Show p.Asp3240_Arg3241insHisLysGlyProGlnIleAspIleLysGly ProLysLeuAspLeuLysGlyProLysThrAspValThrAlaProAspVa lGluValSerGlnProGlyMetGluValAspValGluAlaProGlyAlaL ysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAsp ValThrAlaLysAspSerLysPheLysMetProLysPheLysMetProSe rPheGlyValSerAlaProGlyLysSerIleGluValLeuValAspValS erAlaProLysValGluAlaAspValSerLeuProSerMetGlnGlyAsp LeuLysThrThrAspIleSerIleGluProProSerAlaGlnLeuGluVa lGlnAlaGlyGlnValAspLeuLysLeuProGluGlyHisValProGluG lyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLys MetProLysValAspHisLysGlyProGlnIleAspIleLysGlyProLy sLeuAspLeuLysGlyProLysAlaGluValThrAlaProAspValGluV alSerLeuProSerValGluValAspValGluAlaProArgAlaLysLeu AspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAspValTh rAlaLysAspSerLysPheLysMetProLysPheLysMetProSerPheG lyValSerAlaProGlyLysSerIleGluValSerValAspValSerAla ProLysValGluAlaGluValSerLeuProSerMetGlnGlyAspLeuLy sThrThrAspIleSerIleGluProProSerAlaGlnLeuGluValGlnA laGlyGlnValAspLeuLysLeuProGluGlyHisValProGluGlyAla GlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLysMetPr oLysValAspArgLysGlyProGlnIleAspValLysGlyProLysLeuA spLeuLysGlyProLysThrAspValThrAlaProAspValGluValSer GlnProGlyMetGluValAspValGluAlaProGlyAlaLysLeuAspGl yAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaL ysAspSerLysPheLysMetProLysPheLysMetProSerPheGlyVal SerAlaProGlyLysSerIleGluValLeuValAspValSerAlaProLy sValGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnT hrAspIleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGly GlnValAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLe uLysGlyHisLeuProLysLeuGlnMetProSerPheLysMetProLysV alAspHisLysGlyProGlnIleAspIleLysGlyProLysLeuAspLeu LysGlyProLysThrAspValThrAlaProAspValGluValSerGlnPr oGlyMetGluValAspValGluAlaProGlyAlaLysLeuAspGlyAlaA rgLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAsp SerLysPheLysMetProLysPheLysMetProSerPheGlyValSerAl aProGlyLysSerIleGluValLeuValAspValSerAlaProLysValG luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnThrAsp IleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGlyGlnVa lAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLeuLysG lyHisLeuProLysLeuGlnMetProSerPheLysMetProLysValAsp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9858/18335	9721/17388	3241/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946012	T T	TGGGCATT others(488): Show TGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGG GACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTGGCTCCTGGGGCCTC GACATCCACCTCCATGCTGGGCTGAGACACCTCCACGTCGGGGGCCGTCA CGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTATC TGGGGGCCCTTGTGATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAA CTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTG GGAGCTTCACGTCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGG GGCTCAATGCTGATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAG GCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCAAGACCTCAA TGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02922.hp2 HG02922.hp2	a0082 a0082	a0082c0047 a0082c0047	a0082c0047t0001 a0082c0047t0001	a0082c0047t0001g0077 a0082c0047t0001g0077	1	354	0.0028	495	c.943 others(504): Show c.9438_9439insGAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCCCA GGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAGGC CGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACATCA GCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGGAC GTGAAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGGCA CCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCACA AGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGACCTGAAAGGCCCG AAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCAGCATGGA GGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGGCTGGAGG GGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAAGTTC AAAATGCCC	p.Pro others(510): Show p.Pro3146_Lys3147insGluPheLysMetProSerPheGlyValSer AlaProGlyLysSerIleGluValLeuValAspValSerAlaProLysVa lGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnThrA spIleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGlyGln ValAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLeuLy sGlyHisLeuProLysLeuGlnMetProSerPheLysMetProLysValA spHisLysGlyProGlnIleAspIleLysGlyProLysLeuAspLeuLys GlyProLysThrAspValThrAlaProAspValGluValSerGlnProSe rMetGluValAspValGluAlaProGlyAlaLysLeuAspGlyAlaArgL euGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSer LysPheLysMetPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9575/18335	9438/17388	3146/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948349	C C	CGCTGAGG others(488): Show CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0070 a0076 a0070 a0076	a0070c0045 a0076c0046 a0070c0045 a0076c0046	a0070c0045t0003 a0076c0046t0003 a0070c0045t0003 a0076c0046t0003	a0070c0045t0003g0130 a0076c0046t0003g0110 a0070c0045t0003g0130 a0076c0046t0003g0110	2	347	0.0058	495	c.660 others(504): Show c.6607_7101dupATTCAGCCCCTTTCCGCCGACGTGAAGGTCCAGGCT GGCCAGGTGGACGTGAAACTCCTGGAGGGCCCTGTGCCCGAGGAAGTCGG CCTCAAAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAGGTGCCCA AAGTGGACCTCAAGGGCCCCGAAATAGACATCAAGGGCCCCAAGCTGGAC CTAAAAGACCCCAAGGTGGAAGTGACAGCCCCTGATGTGGAGGTGTCTCT GCCCAGCGTGGAGGTGGACGTCAAGGCCCCAGGAGCCAAGCTGGATGGTG CGCGGCTGGAGGGGGACATGTCCCTGGCCGACAAGGACGTGACTGCCAAA GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCTGTCGTTTGGGGTGTC TGCCCTTGGCAAGTCCATCGAGGCCTCAGCGGATGTGTCTGCGTTGAAGG TGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTCAAGACCACT GACCTCAGC	p.Ser others(510): Show p.Ser2367_Val2368insIleGlnProLeuSerAlaAspValLysVal GlnAlaGlyGlnValAspValLysLeuLeuGluGlyProValProGluGl uValGlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLysV alProLysValAspLeuLysGlyProGluIleAspIleLysGlyProLys LeuAspLeuLysAspProLysValGluValThrAlaProAspValGluVa lSerLeuProSerValGluValAspValLysAlaProGlyAlaLysLeuA spGlyAlaArgLeuGluGlyAspMetSerLeuAlaAspLysAspValThr AlaLysAspSerLysPheLysMetProLysPheLysMetLeuSerPheGl yValSerAlaLeuGlyLysSerIleGluAlaSerAlaAspValSerAlaL euLysValGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLys ThrThrAspLeuSer	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7238/18335	7101/17388	2367/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950686	C C	CTTCAGGC others(488): Show CTTCAGGCATCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTG AGGCCGGCTCCCTCGGGAACGTGGCCCTCTGGGAGTTTCACATCCACCTG GCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTGAATGCTGATGTCAG TGGTCTTAAGGTCCCCTTGCATGGAGGGGAGGCTCATGTCGGCTTCCACC TTCAGCTCAGACACATCCACCAACGCCTCGATAGACTCGCCTGGGGCCGA CACCCTGAATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTATCTT TGGCTGTCACACCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGCGCA CCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAG AGACATCTCCACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGT CCAGCTTGGGGCCCTTGACATCTAGCTGGGGGCCCTTGAGGTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	495	c.476 others(504): Show c.4764_4765insATGGACCTCAAGGGCCCCCAGCTAGATGTCAAGGGC CCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAGTGACAGCCCCCGATGT GGAGATGTCTCTGTCCAGCATGGAGGTGGACGTCCAGGCCCCGAGAGCAA AGCTGGATGGTGCGCGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGGGT GTGACAGCCAAAGATAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCATC ATTCAGGGTGTCGGCCCCAGGCGAGTCTATCGAGGCGTTGGTGGATGTGT CTGAGCTGAAGGTGGAAGCCGACATGAGCCTCCCCTCCATGCAAGGGGAC CTTAAGACCACTGACATCAGCATTCAGCCCCCCTCTGCCCAACTGGAGGT CCAGGCTGGCCAGGTGGATGTGAAACTCCCAGAGGGCCACGTTCCCGAGG GAGCCGGCCTCAAAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAG ATGCCTGAA	p.Lys others(510): Show p.Lys1588_Val1589insMetAspLeuLysGlyProGlnLeuAspVal LysGlyProLysLeuAspLeuLysGlyProLysAlaGluValThrAlaPr oAspValGluMetSerLeuSerSerMetGluValAspValGlnAlaProA rgAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAsp LysGlyValThrAlaLysAspSerLysPheLysMetProLysPheLysMe tProSerPheArgValSerAlaProGlyGluSerIleGluAlaLeuValA spValSerGluLeuLysValGluAlaAspMetSerLeuProSerMetGln GlyAspLeuLysThrThrAspIleSerIleGlnProProSerAlaGlnLe uGluValGlnAlaGlyGlnValAspValLysLeuProGluGlyHisValP roGluGlyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMetProSer PheLysMetProGlu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4901/18335	4764/17388	1588/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950839	C C	CCTTGAGG others(488): Show CCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC GGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCCGACAC CCCAAATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCA TCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGA CATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGC ATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGC TCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCT GGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	340	0.0029	495	c.461 others(504): Show c.4611_4612insACCACTGACCTGAGCATACAGCCCCCTTCTGCTGAC CTGGAGGTCCAGGCTGGCCAAGTGGACGTGAAACTCCCAGAGGGCCCTGT GTCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAAGTGCAGATGCCCA GTTTCAAGATGCCCAAAGTGGACCTCAAGGGGCCCCAGATAGATGTTAAG GGCCCCAAGCTGGACCTGAAAGGCCCCAAGGTGGAAGTGACAGCCCCCGA TGTGAAGATGTCTCTGTCCAGCATGGAGGTGGACGTCCAGGCCCCGAGAG CAAAGCTGGATGGTGCGCAGCTGGAGGGGGACCTGTCCCTGGCCGACAAG GCGGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCC ATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGAGGCCTCAGTGGATG TGTCTGCGCCGAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGG GACCTCAAG	p.Lys others(510): Show p.Lys1537_Ala1538insThrThrAspLeuSerIleGlnProProSer AlaAspLeuGluValGlnAlaGlyGlnValAspValLysLeuProGluGl yProValSerGluGlyAlaGlyLeuLysGlyHisLeuProLysValGlnM etProSerPheLysMetProLysValAspLeuLysGlyProGlnIleAsp ValLysGlyProLysLeuAspLeuLysGlyProLysValGluValThrAl aProAspValLysMetSerLeuSerSerMetGluValAspValGlnAlaP roArgAlaLysLeuAspGlyAlaGlnLeuGluGlyAspLeuSerLeuAla AspLysAlaValThrAlaLysAspSerLysPheLysMetProLysPheLy sMetProSerPheGlyValSerAlaProGlyLysSerIleGluAlaSerV alAspValSerAlaProLysValGluAlaAspValSerLeuProSerMet GlnGlyAspLeuLys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4748/18335	4611/17388	1537/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950949	G G	GGCATCTT others(488): Show GGCATCTTGAACTTGGGAATTTTGAACCTGCTGTCTTTGGTAGTCACATC CTTGTCCGCCACAGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGG CTCCCGGGGCCTCGACATCCACCTCCACGCTGGGCTGAGACACCTCCACG TCGGGGGCCATCACGTCCGTCTTGGGGCCTTTCAGGTCCAGCTTGGGGCC CTTGACATCTATCTGGGGGCCCTTGAGATCTACTTTGGGCATCTTGAAAC TGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCCGGC ACGGGGCCCTCTGAGAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAG GTCAGCGGAAGGGGGCTGAACGCTGAGGTCAGTGGTCTTGAGGTCCCCCT GCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCAACGCAGACACATCC GCTGAGGCCTCGATGGACTTGCCAGGGGCAGACACCCCAAACGAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	340	0.0029	495	c.450 others(504): Show c.4501_4502insTCTCGTTTGGGGTGTCTGCCCCTGGCAAGTCCATCG AGGCCTCAGCGGATGTGTCTGCGTTGAAGGTGGAGGCCGACGTGAGCCTC CCCTCCATGCAGGGGGACCTCAAGACCACTGACCTCAGCGTTCAGCCCCC TTCCGCTGACCTGGAGGTCCAGGCTGGCCAAGTGGATGTGAAACTCTCAG AGGGCCCCGTGCCGGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAGCTG CAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCTCAAGGGCCCCCAGAT AGATGTCAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGACGGACGTGA TGGCCCCCGACGTGGAGGTGTCTCAGCCCAGCGTGGAGGTGGATGTCGAG GCCCCGGGAGCCAAGCTGGATGGTGCGTGGCTGGAGGGGGACCTGTCTGT GGCGGACAAGGATGTGACTACCAAAGACAGCAGGTTCAAAATTCCCAAGT TCAAGATGC	p.Met others(510): Show p.Met1500_Pro1501insLeuSerPheGlyValSerAlaProGlyLys SerIleGluAlaSerAlaAspValSerAlaLeuLysValGluAlaAspVa lSerLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerValG lnProProSerAlaAspLeuGluValGlnAlaGlyGlnValAspValLys LeuSerGluGlyProValProGluGlyAlaGlyLeuLysGlyHisLeuPr oLysLeuGlnMetProSerPheLysMetProLysValAspLeuLysGlyP roGlnIleAspValLysGlyProLysLeuAspLeuLysGlyProLysThr AspValMetAlaProAspValGluValSerGlnProSerValGluValAs pValGluAlaProGlyAlaLysLeuAspGlyAlaTrpLeuGluGlyAspL euSerValAlaAspLysAspValThrThrLysAspSerArgPheLysIle ProLysPheLysMet	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4638/18335	4501/17388	1501/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951742	G G	GAAGGGGG others(488): Show GAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCC AGGTCAGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCC CTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACAT CCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGC ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTT GTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTC TCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCG GGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTT AACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGG GCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	495	c.370 others(504): Show c.3708_3709insTCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAA GTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACCTCAAGGGGCCCCA GATAGATGTTAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAG TGACAGCCCCCGATGTGAAGATGTCTCTGTCCAGCATGGAGGTGGACGTC CAGGCCCCGAGAGCAAAGCTGGATGGTGCGCAGCTGGAGGGGGACCTGTC CCTGGCCGACAAGGCGGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCA AGTTCAAGATGCCATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGAG GCCTCGGTGGATGTGTCTGAGCCGAAGGTGGAAGCTGATGTGAGCCTCCC CTCCATGCAGGGGGACCTCAAGACCACTGACCTCAGCATTCAGTCCCCTT CCGCTGACCTGGAGGTCCAGGCTGGCCAAGTGAACGTGAAACTCCCGGAG GGCCCCCTT	p.Val others(510): Show p.Val1236_Pro1237insSerGluGlyAlaGlyLeuLysGlyHisLeu ProLysValGlnMetProSerPheLysMetProLysValAspLeuLysGl yProGlnIleAspValLysGlyProLysLeuAspLeuLysGlyProLysA laGluValThrAlaProAspValLysMetSerLeuSerSerMetGluVal AspValGlnAlaProArgAlaLysLeuAspGlyAlaGlnLeuGluGlyAs pLeuSerLeuAlaAspLysAlaValThrAlaLysAspSerLysPheLysM etProLysPheLysMetProSerPheGlyValSerAlaProGlyLysSer IleGluAlaSerValAspValSerGluProLysValGluAlaAspValSe rLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerIleGlnS erProSerAlaAspLeuGluValGlnAlaGlyGlnValAsnValLysLeu ProGluGlyProLeu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3845/18335	3708/17388	1236/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952144	C C	CGTCCACC others(488): Show CGTCCACCTGGGGGCCCTTGATGTCCACTTTGGGCATCTTGAAACTGGGC ATCTGCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTG GCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCAGGTCGG TGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTCAGGTCCCCCTGCATG GAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCAT GGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGA ACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCC AAGGACAGGTCCCCCTCCAACTGTGCACTATCCAGCTTGGCTCTCCGAGC CTGGACGTCCACCTCGACGCTGGGCAGAGACACCTCGACATCGGGGACTC TCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(68): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1	a0003 a0004 a0006 others(25): Show a0003 a0004 a0006 a0010 a0012 a0017 a0020 a0027 a0028 a0041 a0047 a0048 a0055 a0063 a0066 a0071 a0077 a0081 a0088 a0090 a0091 a0098 a0100 a0104 a0105 a0108 a0109 a0111	a0003c0004 a0003c0119 a0004c0006 others(30): Show a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0017c0013 a0020c0032 a0020c0110 a0027c0034 a0028c0118 a0028c0120 a0041c0053 a0047c0094 a0048c0112 a0055c0096 a0063c0111 a0066c0107 a0071c0148 a0077c0105 a0081c0124 a0088c0104 a0090c0098 a0091c0126 a0098c0100 a0100c0093 a0104c0149 a0105c0115 a0108c0116 a0109c0117 a0111c0052	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(31): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0041c0053t0002 a0047c0094t0013 a0048c0112t0002 a0055c0096t0001 a0063c0111t0002 a0066c0107t0002 a0071c0148t0002 a0077c0105t0002 a0081c0124t0002 a0088c0104t0002 a0090c0098t0002 a0091c0126t0002 a0098c0100t0001 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0108c0116t0001 a0109c0117t0005 a0111c0052t0002	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(56): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0041c0053t0002g0147 a0047c0094t0013g0123 a0048c0112t0002g0151 a0055c0096t0001g0255 a0063c0111t0002g0137 a0066c0107t0002g0174 a0071c0148t0002g0083 a0077c0105t0002g0133 a0081c0124t0002g0246 a0088c0104t0002g0215 a0090c0098t0002g0203 a0091c0126t0002g0196 a0098c0100t0001g0217 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0108c0116t0001g0152 a0109c0117t0005g0167 a0111c0052t0002g0146	71	334	0.2126	495	c.330 others(504): Show c.3306_3307insATCAAGGGCCCCAAGCTGGACCTAAAAGACCCCAAG GTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCGTCGAGGT GGACGTCCAGGCTCGGAGAGCCAAGCTGGATAGTGCACAGTTGGAGGGGG ACCTGTCCTTGGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCAAA ATGCCCAAGTTCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAGGCAAGTC CATCGAGGCCATGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGTGA GTCTCCCCTCCATGCAGGGGGACCTGAAGGCCACTGACCTCAGCATTCAG CCCCCTTCCACCGACCTGAAGGTCCAGGCTGGCCAGGTGGACGTGAAACT CCTGGAGGGCCACGTTCCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCA AGGTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACATCAAGGGCCCC CAGGTGGAC	p.Asp others(510): Show p.Asp1102_Val1103insIleLysGlyProLysLeuAspLeuLysAsp ProLysValGluValArgValProAspValGluValSerLeuProSerVa lGluValAspValGlnAlaArgArgAlaLysLeuAspSerAlaGlnLeuG luGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSerArg PheLysMetProLysPheLysMetProSerPheGlyValSerAlaProGl yLysSerIleGluAlaMetValAspValSerAlaProLysValGluAlaA spValSerLeuProSerMetGlnGlyAspLeuLysAlaThrAspLeuSer IleGlnProProSerThrAspLeuLysValGlnAlaGlyGlnValAspVa lLysLeuLeuGluGlyHisValProGluGlyAlaGlyLeuLysGlyHisL euProLysValGlnMetProSerPheLysMetProLysValAspIleLys GlyProGlnValAsp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3443/18335	3306/17388	1102/5795		chr14	TogoVar
AHNAK_chr11_62510902_62551806	62536083	T T	TCTC TCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(36): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0002c0004 a0002c0011 others(8): Show a0002c0003 a0002c0004 a0002c0011 a0002c0012 a0002c0021 a0002c0051 a0002c0052 a0002c0053 a0002c0054 a0014c0049 a0014c0050	a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 others(9): Show a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 a0002c0011t0001 a0002c0012t0001 a0002c0021t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0002c0054t0005 a0014c0049t0004 a0014c0050t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(16): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0004t0001g0011 a0002c0004t0001g0013 a0002c0004t0001g0034 a0002c0004t0003g0033 a0002c0004t0003g0050 a0002c0011t0001g0005 a0002c0012t0001g0007 a0002c0021t0001g0027 a0002c0051t0001g0031 a0002c0052t0001g0052 a0002c0053t0001g0095 a0002c0054t0005g0030 a0014c0049t0004g0096 a0014c0050t0001g0078	39	184	0.2120	3	c.13_ others(8): Show c.13_15dupGAG	p.Glu others(4): Show p.Glu5dup	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	3/5	261/18761	15/17673	5/5890		chr11	TogoVar
AK5_chr1_77277019_77564966	77558660	C C	CTAT CTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(168): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0021 a0001c0008t0001 a0001c0009t0004 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(168): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0229 a0001c0001t0003g0284 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0005g0231 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0193 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0230 a0001c0001t0006g0233 a0001c0001t0007g0106 a0001c0001t0007g0125 a0001c0001t0007g0213 a0001c0001t0007g0235 a0001c0001t0007g0281 a0001c0001t0017g0051 a0001c0001t0019g0157 a0001c0001t0019g0189 a0001c0001t0023g0208 a0001c0001t0024g0234 a0001c0001t0028g0185 a0001c0003t0001g0240 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0248 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0004g0236 a0001c0003t0004g0249 a0001c0003t0004g0254 a0001c0003t0004g0257 a0001c0003t0007g0132 a0001c0003t0021g0238 a0001c0008t0001g0035 a0001c0009t0004g0091 a0004c0007t0001g0215	171	282	0.6064	3	c.168 others(12): Show c.1681_1683dupATT	p.Ile others(6): Show p.Ile561dup	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	14/14	1979/3280	1684/1689	562/562	INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP3_chr12_4610518_4654051	4626804	A A	ACTTGTCA others(23): Show ACTTGTCATCTCCCAGCTTGTCATCTCCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp1 HG03041.hp1 HG03225.hp2 others(1): Show HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0023 a0008c0010t0001g0024 a0008c0010t0001g0023 a0008c0010t0001g0024	4	327	0.0122	30	c.209 others(39): Show c.2097_2098insCTGGGAGATGACAAGCTGGGAGATGACAAG	p.Lys others(43): Show p.Lys699_Ser700insLeuGlyAspAspLysLeuGlyAspAspLys	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/6	2648/3334	2097/2562	699/853		chr12	TogoVar
ALYREF_chr17_81882835_81896586	81890723	T T	TTGGACAC others(5): Show TTGGACACCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0032 a0003c0007t0001g0032	1	320	0.0031	12	c.344 others(19): Show c.344_355dupTGCTGGTGTCCA	p.Ser others(25): Show p.Ser118_Asn119insMetLeuValSer	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	2/6	361/1097	355/795	119/264		chr17	TogoVar
AMER2_chr13_25156679_25177288	25170698	G G	GCTCGGGG others(14): Show GCTCGGGGGGTGCCCGGGGCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02056.hp1 HG03225.hp2 HG03453.hp1 others(2): Show HG02056.hp1 HG03225.hp2 HG03453.hp1 NA19074.hp2 NA19080.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0024 a0003c0003t0025 a0004c0004t0026 a0003c0003t0024 a0003c0003t0025 a0004c0004t0026	a0003c0003t0024g0000 a0003c0003t0025g0000 a0004c0004t0026g0000 a0003c0003t0024g0000 a0003c0003t0025g0000 a0004c0004t0026g0000	5	414	0.0121	21	c.921 others(28): Show c.921_922insAAGCCCCGGGCACCCCCCGAG	p.Glu others(34): Show p.Glu307_Pro308insLysProArgAlaProProGlu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1590/10610	921/2016	307/671		chr13	TogoVar
AMIGO1_chr1_109499178_109514727	109508618	T T	TCAGGTGG others(14): Show TCAGGTGGTTGTGGCTCAGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0036	1	398	0.0025	21	c.274 others(28): Show c.274_294dupCTGCTGAGCCACAACCACCTG	p.Leu others(32): Show p.Leu98_Asn99insLeuLeuSerHisAsnHisLeu	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding	2/2	689/5130	294/1482	98/493		chr1	TogoVar
AMOT_chrX_112769877_112845831	112779069	C C	CAGG CAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG01081.hp1 HG01192.hp1 others(6): Show HG00639.hp2 HG01081.hp1 HG01192.hp1 HG01884.hp2 HG01952.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0007 a0002c0003t0007g0012 a0002c0003t0007g0015 others(6): Show a0002c0003t0007g0007 a0002c0003t0007g0012 a0002c0003t0007g0015 a0002c0003t0007g0070 a0002c0003t0007g0071 a0002c0003t0007g0072 a0002c0003t0007g0171 a0002c0003t0007g0176 a0002c0003t0007g0210	9	268	0.0336	3	c.308 others(12): Show c.3082_3084dupCCT	p.Pro others(7): Show p.Pro1028dup	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	13/14	3752/7613	3084/3255	1028/1084		chrX	TogoVar
ANKRD60_chr20_58211126_58233653	58228620	C C	CCCG CCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(119): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG01123.hp2 HG01168.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp2 HG02738.hp1 HG02886.hp2 HG03017.hp2 HG03130.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp1	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0002 a0002c0007 a0002c0012 others(4): Show a0002c0002 a0002c0007 a0002c0012 a0002c0016 a0002c0017 a0005c0009 a0010c0015	a0002c0002t0001 a0002c0002t0014 a0002c0007t0003 others(8): Show a0002c0002t0001 a0002c0002t0014 a0002c0007t0003 a0002c0007t0004 a0002c0007t0019 a0002c0012t0001 a0002c0012t0013 a0002c0016t0001 a0002c0017t0001 a0005c0009t0002 a0010c0015t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0021 others(45): Show a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0014g0071 a0002c0007t0003g0008 a0002c0007t0003g0034 a0002c0007t0003g0035 a0002c0007t0003g0060 a0002c0007t0003g0061 a0002c0007t0003g0067 a0002c0007t0003g0077 a0002c0007t0004g0090 a0002c0007t0004g0091 a0002c0007t0004g0092 a0002c0007t0019g0078 a0002c0012t0001g0094 a0002c0012t0013g0093 a0002c0016t0001g0073 a0002c0017t0001g0079 a0005c0009t0002g0059 a0005c0009t0002g0064 a0005c0009t0002g0068 a0005c0009t0002g0069 a0005c0009t0002g0070 a0010c0015t0001g0058	122	456	0.2675	3	c.31_ others(8): Show c.31_33dupCGG	p.Arg others(5): Show p.Arg11dup	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	1/4	33/3407	33/1038	11/345		chr20	TogoVar
ANKRD63_chr15_40273372_40288064	40281980	T T	TGGCCGCG others(2): Show TGGCCGCGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp1 HG02486.hp1 HG02647.hp2 others(2): Show HG02145.hp1 HG02486.hp1 HG02647.hp2 HG02965.hp2 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0026 a0002c0004t0027 others(2): Show a0002c0004t0025 a0002c0004t0026 a0002c0004t0027 a0002c0004t0037 a0002c0004t0038	a0002c0004t0025g0000 a0002c0004t0026g0000 a0002c0004t0027g0000 others(2): Show a0002c0004t0025g0000 a0002c0004t0026g0000 a0002c0004t0027g0000 a0002c0004t0037g0000 a0002c0004t0038g0000	5	408	0.0123	9	c.598 others(16): Show c.598_606dupCCCGCGGCC	p.Ala others(22): Show p.Ala202_Ser203insProAlaAla	ANKRD63	ENSG00000230778.2	transcript	ENST00000434396.2	protein_coding	1/1	1084/4693	606/1143	202/380		chr15	TogoVar
ANKS1A_chr6_34884255_35096406	34889525	G G	GGGCGGC GGGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(60): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG01243.hp1 HG01433.hp2 HG01516.hp1 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03927.hp2 HG04184.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp2 NA18986.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19086.hp1 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0010 a0002c0032 others(1): Show a0002c0003 a0002c0010 a0002c0032 a0002c0033	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(12): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0009 a0002c0003t0014 a0002c0003t0028 a0002c0003t0032 a0002c0003t0033 a0002c0003t0037 a0002c0010t0001 a0002c0010t0015 a0002c0010t0018 a0002c0032t0001 a0002c0033t0003	a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0308 others(60): Show a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0308 a0002c0003t0002g0261 a0002c0003t0002g0267 a0002c0003t0002g0278 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0290 a0002c0003t0002g0296 a0002c0003t0002g0301 a0002c0003t0002g0303 a0002c0003t0002g0304 a0002c0003t0002g0305 a0002c0003t0002g0312 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0262 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0277 a0002c0003t0003g0283 a0002c0003t0003g0287 a0002c0003t0003g0288 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0005g0259 a0002c0003t0005g0314 a0002c0003t0009g0279 a0002c0003t0009g0282 a0002c0003t0009g0286 a0002c0003t0009g0299 a0002c0003t0014g0316 a0002c0003t0014g0318 a0002c0003t0028g0284 a0002c0003t0032g0317 a0002c0003t0033g0285 a0002c0003t0037g0260 a0002c0010t0001g0307 a0002c0010t0015g0306 a0002c0010t0015g0309 a0002c0010t0018g0315 a0002c0032t0001g0313 a0002c0033t0003g0276	63	318	0.1981	6	c.133 others(13): Show c.133_138dupGGCGGC	p.Gly others(11): Show p.Gly45_Gly46dup	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	1/24	287/6350	139/3405	47/1134	INFO_REALIGN_3_PRIME	chr6	TogoVar
ANLN_chr7_36384862_36458791	36407740	A A	ACTT ACTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(204): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0007 a0009 a0012	a0001c0001 a0001c0006 a0001c0010 others(11): Show a0001c0001 a0001c0006 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0004c0003 a0004c0007 a0004c0025 a0005c0008 a0006c0013 a0007c0023 a0009c0024 a0012c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0006t0001 a0001c0006t0004 a0001c0006t0012 a0001c0010t0001 a0001c0015t0002 a0001c0016t0001 a0001c0017t0001 a0004c0003t0002 a0004c0007t0001 a0004c0007t0006 a0004c0025t0002 a0005c0008t0002 a0006c0013t0003 a0007c0023t0002 a0009c0024t0002 a0012c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0241 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0003g0004 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0010g0317 a0001c0001t0013g0039 a0001c0006t0001g0137 a0001c0006t0004g0009 a0001c0006t0004g0130 a0001c0006t0004g0131 a0001c0006t0004g0132 a0001c0006t0004g0133 a0001c0006t0004g0135 a0001c0006t0004g0136 a0001c0006t0012g0134 a0001c0010t0001g0093 a0001c0010t0001g0094 a0001c0010t0001g0095 a0001c0015t0002g0377 a0001c0016t0001g0240 a0001c0017t0001g0007 a0004c0003t0002g0001 a0004c0003t0002g0016 a0004c0003t0002g0017 a0004c0003t0002g0018 a0004c0003t0002g0327 a0004c0003t0002g0331 a0004c0003t0002g0332 a0004c0003t0002g0341 a0004c0003t0002g0342 a0004c0003t0002g0343 a0004c0003t0002g0344 a0004c0003t0002g0345 a0004c0003t0002g0346 a0004c0003t0002g0347 a0004c0003t0002g0348 a0004c0003t0002g0349 a0004c0003t0002g0350 a0004c0003t0002g0351 a0004c0003t0002g0352 a0004c0003t0002g0353 a0004c0003t0002g0354 a0004c0003t0002g0356 a0004c0003t0002g0357 a0004c0003t0002g0358 a0004c0003t0002g0359 a0004c0003t0002g0360 a0004c0003t0002g0361 a0004c0003t0002g0362 a0004c0003t0002g0363 a0004c0003t0002g0364 a0004c0003t0002g0365 a0004c0003t0002g0370 a0004c0003t0002g0371 a0004c0003t0002g0372 a0004c0007t0001g0367 a0004c0007t0006g0019 a0004c0007t0006g0366 a0004c0007t0006g0373 a0004c0007t0006g0374 a0004c0025t0002g0355 a0005c0008t0002g0339 a0005c0008t0002g0340 a0005c0008t0002g0368 a0005c0008t0002g0369 a0006c0013t0003g0049 a0007c0023t0002g0001 a0009c0024t0002g0017 a0012c0022t0001g0063	207	406	0.5099	3	c.883 others(10): Show c.883_885dupTCT	p.Ser others(6): Show p.Ser295dup	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	5/24	1051/4731	886/3375	296/1124	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARHGAP21_chr10_24578614_24728887	24594993	G G	GAAAGGAA others(47): Show GAAAGGAACTTAAGTGTTTCATAATGATGTTCAGGCAAATCGTGAATCTG AAACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02129.hp2 HG02523.hp2 NA18747.hp1 others(3): Show HG02129.hp2 HG02523.hp2 NA18747.hp1 NA18989.hp1 NA19011.hp2 NA19056.hp2	a0006 a0020 a0006 a0020	a0006c0007 a0006c0029 a0020c0028 a0006c0007 a0006c0029 a0020c0028	a0006c0007t0006 a0006c0007t0015 a0006c0029t0006 others(1): Show a0006c0007t0006 a0006c0007t0015 a0006c0029t0006 a0020c0028t0006	a0006c0007t0006g0292 a0006c0007t0006g0293 a0006c0007t0006g0294 others(3): Show a0006c0007t0006g0292 a0006c0007t0006g0293 a0006c0007t0006g0294 a0006c0007t0015g0289 a0006c0029t0006g0291 a0020c0028t0006g0290	6	350	0.0171	54	c.378 others(65): Show c.3787-8_3832dupTGTTTCAGATTCACGATTTGCCTGAACATCATTA TGAAACACTTAAGTTCCTTT	p.Leu others(69): Show p.Leu1277_Ser1278insLeuPheGlnIleHisAspLeuProGluHis HisTyrGluThrLeuLysPheLeu	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	21/26	4538/7381	3832/5877	1278/1958		chr10	TogoVar
ARHGEF17_chr11_73303276_73374388	73309330	G G	GCTC GCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(95): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18965.hp2 NA18981.hp2 NA18985.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0011	a0002c0002 a0002c0003 a0002c0004 others(20): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0012 a0002c0015 a0002c0016 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0002c0034 a0002c0035 a0002c0036 a0002c0037 a0002c0038 a0002c0042 a0007c0014 a0010c0040 a0011c0041	a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 others(29): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0003t0002 a0002c0003t0004 a0002c0003t0011 a0002c0004t0003 a0002c0005t0005 a0002c0005t0009 a0002c0006t0003 a0002c0007t0002 a0002c0008t0001 a0002c0008t0002 a0002c0008t0006 a0002c0008t0018 a0002c0012t0007 a0002c0015t0004 a0002c0016t0003 a0002c0030t0014 a0002c0031t0004 a0002c0032t0004 a0002c0033t0002 a0002c0034t0004 a0002c0035t0006 a0002c0036t0004 a0002c0037t0013 a0002c0038t0005 a0002c0042t0002 a0007c0014t0002 a0010c0040t0001 a0011c0041t0016	a0002c0002t0001g0005 a0002c0002t0001g0037 a0002c0002t0001g0038 others(82): Show a0002c0002t0001g0005 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0131 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0004g0140 a0002c0002t0008g0039 a0002c0002t0008g0040 a0002c0002t0012g0143 a0002c0003t0002g0012 a0002c0003t0002g0054 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0062 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0121 a0002c0003t0002g0133 a0002c0003t0002g0134 a0002c0003t0002g0135 a0002c0003t0002g0188 a0002c0003t0002g0191 a0002c0003t0004g0065 a0002c0003t0011g0120 a0002c0004t0003g0001 a0002c0004t0003g0127 a0002c0004t0003g0128 a0002c0004t0003g0129 a0002c0004t0003g0130 a0002c0004t0003g0132 a0002c0005t0005g0030 a0002c0005t0005g0031 a0002c0005t0005g0032 a0002c0005t0005g0033 a0002c0005t0005g0035 a0002c0005t0009g0010 a0002c0006t0003g0024 a0002c0006t0003g0025 a0002c0006t0003g0026 a0002c0006t0003g0027 a0002c0006t0003g0028 a0002c0006t0003g0029 a0002c0007t0002g0006 a0002c0007t0002g0048 a0002c0007t0002g0049 a0002c0008t0001g0053 a0002c0008t0002g0123 a0002c0008t0006g0124 a0002c0008t0006g0126 a0002c0008t0018g0023 a0002c0012t0007g0018 a0002c0015t0004g0011 a0002c0016t0003g0189 a0002c0016t0003g0190 a0002c0030t0014g0045 a0002c0031t0004g0063 a0002c0032t0004g0064 a0002c0033t0002g0061 a0002c0034t0004g0117 a0002c0035t0006g0125 a0002c0036t0004g0118 a0002c0037t0013g0138 a0002c0038t0005g0034 a0002c0042t0002g0051 a0007c0014t0002g0055 a0007c0014t0002g0056 a0010c0040t0001g0041 a0011c0041t0016g0137	98	226	0.4336	3	c.703 others(10): Show c.703_705dupTCC	p.Ser others(6): Show p.Ser235dup	ARHGEF17	ENSG00000110237.5	transcript	ENST00000263674.4	protein_coding	1/21	1069/8163	706/6192	236/2063	INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF19_chr1_16192854_16217652	16207132	C C	CCCGGGCC others(8): Show CCCGGGCCCTCCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18985.hp2 NA18985.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0054 a0012c0011t0001g0054	1	360	0.0028	15	c.938 others(22): Show c.938_952dupAGGAGGAGGGCCCGG	p.Glu others(13): Show p.Glu313_Pro317dup	ARHGEF19	ENSG00000142632.17	transcript	ENST00000270747.8	protein_coding	6/16	1132/3322	952/2409	318/802		chr1	TogoVar
ARID1B_chr6_156772378_157215779	156778982	A A	AGGC AGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01109.hp2 HG02559.hp2 HG01109.hp2 HG02559.hp2	a0008 a0008	a0008c0033 a0008c0034 a0008c0033 a0008c0034	a0008c0033t0002 a0008c0034t0002 a0008c0033t0002 a0008c0034t0002	a0008c0033t0002g0045 a0008c0034t0002g0042 a0008c0033t0002g0045 a0008c0034t0002g0042	2	148	0.0135	3	c.131 others(12): Show c.1318_1320dupGGC	p.Gly others(6): Show p.Gly440dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	1624/10310	1321/7119	441/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156779262	G G	GCGC GCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00642.hp1 HG01071.hp2 HG00642.hp1 HG01071.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0036 a0007c0006t0001g0130 a0007c0006t0001g0036 a0007c0006t0001g0130	2	148	0.0135	3	c.159 others(12): Show c.1597_1599dupCCG	p.Pro others(6): Show p.Pro533dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	1903/10310	1600/7119	534/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar

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