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
AHNAK2_chr14_104932253_104983374	104948834	AGGGGCTG others(488): Show AGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGG GAGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCT CGATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTG GGCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGT CAGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGA CGTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATT TCCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCACCTG GGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCT TGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGGCACGTGGCCCTCCGGG AGCTTCACATCCACCTGGCCAGTCTGGACCTTCAGGTCGGCAGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00323.hp1 HG00642.hp1 others(56): Show HG00099.hp1 HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0009 a0018 others(12): Show a0002 a0009 a0018 a0019 a0026 a0031 a0035 a0044 a0045 a0049 a0060 a0069 a0097 a0101 a0112	a0002c0003 a0002c0005 a0002c0036 others(21): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0044c0131 a0045c0140 a0049c0135 a0060c0142 a0069c0136 a0097c0122 a0101c0141 a0112c0132	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(23): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0060c0142t0002 a0069c0136t0002 a0097c0122t0002 a0101c0141t0002 a0112c0132t0015	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(38): Show a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0009c0009t0002g0005 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0060c0142t0002g0225 a0069c0136t0002g0257 a0097c0122t0002g0180 a0101c0141t0002g0219 a0112c0132t0015g0258	59	349	0.1691	-495	c.612 others(9): Show c.6122_6616del	p.Pro others(15): Show p.Pro2041_Pro2205del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6753/18335	6122/17388	2041/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948854	AGTGGTCT others(983): Show AGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCA CCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA GACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC TTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCG CACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGC AGAGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAG GTCCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTT TGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGG CCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCC AGTCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGG TCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTG GGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATAC CCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCA TCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGA CACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGC ATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGC TCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCT GGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	353	0.0057	-990	c.560 others(9): Show c.5607_6596del	p.Asp others(15): Show p.Asp1870_Thr2199del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6733/18335	5607/17388	1869/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948962	AAACGACG others(2468): Show AAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAG TCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCACTATCC AGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAGAGACAC CTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGTCCAGTT TGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATC TTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGGCCAGCTCC CTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCCAGTCTGGA CCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTCAGG TCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTGGGTGCAGG CACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCCCGAACG ACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCATG TCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATCCAGCTT AGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGA CATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGCG CCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAA ACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTCCCTCGG GCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGGACCACC AGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAGGTCCCC CTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGCAGACACAT CCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGACGGC ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTT GTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCTTGGCTC CTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACGTCG GGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTT GACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGG GCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGG GGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTC GGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCA TGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATCCACC GAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTT GAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGG CCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGG GCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGC TGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACAT CTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATC TGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCC CTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAG AAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAG GGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGC CTCGATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACT TGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGG GACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTC GACATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCA CTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATT TCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAG CTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTG GGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGG GGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAG GCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAA TGGACTTGCCTGGGGCAGACACCCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG00738.hp2 HG01109.hp1 others(9): Show HG00639.hp2 HG00738.hp2 HG01109.hp1 HG01192.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp1	a0001 a0057 a0001 a0057	a0001c0001 a0057c0070 a0001c0001 a0057c0070	a0001c0001t0001 a0057c0070t0001 a0001c0001t0001 a0057c0070t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0208 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0240 a0057c0070t0001g0209	12	334	0.0359	-2475	c.401 others(9): Show c.4014_6488del	p.Gly others(15): Show p.Gly1339_Phe2163del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6625/18335	4014/17388	1338/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949349	AGTGGTCT others(488): Show AGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCA CCTTGGGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCC GATACCCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTC TTTGGCAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCG CACCATCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGC AGAGACACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAG GTCCAGCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTT TGGGCATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGG CCGGCTCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCC AGCCTGGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	-495	c.560 others(9): Show c.5607_6101del	p.Asp others(15): Show p.Asp1870_Thr2034del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6238/18335	5607/17388	1869/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949406	TGCAGGCA others(488): Show TGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC TTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG GTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	352	0.0085	-495	c.555 others(9): Show c.5550_6044del	p.Pro others(15): Show p.Pro1851_Ala2015del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6181/18335	5550/17388	1850/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949853	GAGGTCCC others(488): Show GAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCG CAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCG AACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCA GCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACC TCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTT GGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCT TCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCC TCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGAC CTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 HG02572.hp1	a0069 a0069	a0069c0136 a0069c0136	a0069c0136t0002 a0069c0136t0002	a0069c0136t0002g0257 a0069c0136t0002g0257	1	350	0.0029	-495	c.510 others(9): Show c.5103_5597del	p.Lys others(15): Show p.Lys1702_Leu1866del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5734/18335	5103/17388	1701/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949902	GCAGACAC others(488): Show GCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCC GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG TCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCC AGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACAC CTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCT TGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATC TTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCC CTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGA CCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGG TCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0112 a0112	a0112c0132 a0112c0132	a0112c0132t0015 a0112c0132t0015	a0112c0132t0015g0258 a0112c0132t0015g0258	1	350	0.0029	-495	c.505 others(9): Show c.5054_5548del	p.Glu others(15): Show p.Glu1685_Ser1849del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5685/18335	5054/17388	1685/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949925	GATGGACT others(1478): Show GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGAC AGGTCACCCTCCAGCCGCACACTGTCCAGCTTGGCTCCTGGAGCCTCGAC GTCCACCTCCACGCTGGGCAGAGACACCTCCACGTCGGGGGCCATCACCT CCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCATCTGG GGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCATCTGCACCTT GGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGGCCCTCCGGGA GTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGCGGAAGGGGAC TGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCT CACATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAGGCCTCGATGG ACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAACTTGGGCATT TTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCAGGGACAGGTC CCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCA CCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACC TTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCC CTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCA GGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTC ACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTAT GCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGT CGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTG CCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAA CTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCT CCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCC ACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGG GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18961.hp1 NA18967.hp2 others(2): Show NA18959.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0159 a0001c0002t0001g0001 a0001c0002t0001g0159	5	346	0.0145	-1485	c.404 others(9): Show c.4041_5525del	p.Glu others(15): Show p.Glu1348_Ile1842del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5662/18335	4041/17388	1347/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950127	GCCTTGGG others(983): Show GCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCATCTGGGG GCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCATCTGCACCTTGG GGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGGCCCTCCGGGAGT TTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGCGGAAGGGGACTG AATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCA CATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAGGCCTCGATGGAC TTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCAGGGACAGGTCCC CCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACC TCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTT GGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCT TGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGG TGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCAC GTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGC TCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCG GCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCC TGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACT TGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCC AGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCAC GCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0013 a0008c0010t0003g0013	1	352	0.0028	-990	c.433 others(9): Show c.4334_5323del	p.Val others(15): Show p.Val1445_Lys1774del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5460/18335	4334/17388	1445/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950165	GTCCATCT others(1478): Show GTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCA TCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGG CCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGC GGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGG AGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAG GCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAA CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCA GGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCC TGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGT CACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTA TCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGC ACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTC TGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAG GGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGG AGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTC GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGG ACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATT TTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTC CCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCA CCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCC TTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	350	0.0086	-1485	c.380 others(9): Show c.3801_5285del	p.Glu others(15): Show p.Glu1267_Met1761del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5422/18335	3801/17388	1267/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950411	CGAGGCCT others(488): Show CGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCT TGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCG GCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGG GGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGG CTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACA TCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCAT CTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGC CCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCA GAAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGA GGGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18943.hp2 NA19055.hp1 NA18943.hp2 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	346	0.0058	-495	c.454 others(9): Show c.4545_5039del	p.Val others(15): Show p.Val1516_Ser1680del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5176/18335	4545/17388	1515/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950535	TGCGCACC others(2468): Show TGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCT GGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTT TCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCC ACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTT GAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTT GGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCA GTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCAC CTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAG ACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCT TTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCC ACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCA GAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGG TCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTT GGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGC CGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCA GCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGT CTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGG GTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACC CCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGC AGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCAT CCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGAC ACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAG CTTGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCA TCTTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCT CCCTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTG GACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGA GGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCA GACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAA CGATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCA CATCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGC TTGGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTC CACATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGG GGCCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTG AAACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTC GGGCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCT TCAGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCC CCCTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACAC ATCCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACG GCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCC TTGTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGC CTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGCCAT CGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCC TTAACATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACT GGGCATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCA CAGGGCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGG TCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTG CATGGAGGAGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCA CCGAGTCCTCCATGGACTTGCCTGGGGCCGACACCCCGAATGATGGCATC TTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTC GGCCAGGGACAGGTCCCCCTCCAGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 HG02015.hp2	a0060 a0060	a0060c0142 a0060c0142	a0060c0142t0002 a0060c0142t0002	a0060c0142t0002g0225 a0060c0142t0002g0225	1	298	0.0034	-2475	c.244 others(9): Show c.2441_4915del	p.Arg others(14): Show p.Arg814_Ala1638del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5052/18335	2441/17388	814/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950828	CAGGTCAG others(1973): Show CAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGG CCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCT GGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTT GCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCA GCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACG CTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTC TTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGT CCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCT TTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAA TTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGT CAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCC ACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGC AGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGT CTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGT GCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGG CAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCA GGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACT TTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAA GCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGC CAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTG GTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTT GGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACG CCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTG GCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACT GTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAG ACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCC AGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGG CATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAG CTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCC TGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTT CAGGTCCCCCTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTG CAGACACATCCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCG AACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACGTCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCA GCTTGGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACC TCGCCATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTT GGGGCCCTTAACATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCT TGAAACTGGGCATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCC TCGGGCACAGGGCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGAC CTCCAGGTCAGCGGAAGGGGGCTGAATGCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG03942.hp2	a0097 a0097	a0097c0122 a0097c0122	a0097c0122t0002 a0097c0122t0002	a0097c0122t0002g0180 a0097c0122t0002g0180	1	340	0.0029	-1980	c.264 others(9): Show c.2643_4622del	p.Ser others(14): Show p.Ser882_Leu1541del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4759/18335	2643/17388	881/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950867	GCTCACGT others(983): Show GCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGA TGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGC ATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACAT GTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACAT CCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCC ACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGG GCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGG GCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGT TTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTG AATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCA TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(46): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 NA18940.hp2 NA19043.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0018 a0019 others(7): Show a0002 a0018 a0019 a0026 a0031 a0044 a0045 a0049 a0069 a0112	a0002c0003 a0002c0005 a0002c0036 others(16): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0044c0131 a0045c0140 a0049c0135 a0069c0136 a0112c0132	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(17): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0069c0136t0002 a0112c0132t0015	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(32): Show a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0069c0136t0002g0257 a0112c0132t0015g0258	49	348	0.1408	-990	c.359 others(9): Show c.3594_4583del	p.Leu others(15): Show p.Leu1199_Ser1528del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4720/18335	3594/17388	1198/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950915	GATGGACT others(488): Show GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03225.hp2 HG03225.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0003 a0015c0014t0003	a0015c0014t0003g0132 a0015c0014t0003g0132	1	340	0.0029	-495	c.404 others(9): Show c.4041_4535del	p.Glu others(15): Show p.Glu1348_Ile1512del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4672/18335	4041/17388	1347/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950948	CGGCATCT others(983): Show CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGT CCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTG GCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCAC ATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGC CCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAA CTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGG CACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCA GGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCC TGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTC CACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCA TCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTG TCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCC CGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGT GGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTG ACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGG CATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGT GGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCA GCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCAT GGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCG AGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04228.hp2 NA18953.hp1 NA19002.hp1 others(6): Show HG04228.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20905.hp2	a0009 a0035 a0101 a0009 a0035 a0101	a0009c0009 a0035c0035 a0101c0141 a0009c0009 a0035c0035 a0101c0141	a0009c0009t0002 a0035c0035t0002 a0035c0035t0007 others(1): Show a0009c0009t0002 a0035c0035t0002 a0035c0035t0007 a0101c0141t0002	a0009c0009t0002g0005 a0035c0035t0002g0075 a0035c0035t0007g0220 others(1): Show a0009c0009t0002g0005 a0035c0035t0002g0075 a0035c0035t0007g0220 a0101c0141t0002g0219	9	347	0.0259	-990	c.351 others(9): Show c.3513_4502del	p.Ser others(15): Show p.Ser1172_Pro1501del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4639/18335	3513/17388	1171/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950948	CGGCATCT others(2447): Show CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGT CCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTG GCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCAC ATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGC CCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAA CTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGG CACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCA GGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCC TGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTC CACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCA TCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTG TCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCC CGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGT GGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTG ACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGG CATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGT GGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCA GCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCAT GGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCG AGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTG AACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGC CAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGG CCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCT GTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTC CACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAAACTGGGCATCT CCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCC TCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGA AGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGG GGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACATCCACCAAGGCC TTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGCATCTTGAACTT GGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGG ACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCTTCTGGGCCTGG ACATCCACCTCCATGCTGGGCAGAGACACCTCGCCATCGGGGGCTGTCAC TTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCT GGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACT TTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCACAGGGCCCTCCGG AAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGGTCAGCGGAAGGGG GCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGG CTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGAGTCCTCCAT GGACTTGCCTGGGGCCGACACCCCGAATGATGGCATCTTGAACTTGGGCA TTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTCGGCCAGGGACAGG TCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTC CACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCG CCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGAGGTCCACTTTGGGC ATCTTCAAACTGGGCCTCTGCACCTTGGGCAGGTGCCCTTTGAGGCTGGC TCCCTCGGGCAGGGGGCCCTCCGGAAGTTTCACATCCACTTGGCCATCCT GGACCTCCAGGTCAGCGGAAGGGGTCTGGACGCTGAGGTCAGTGGTCTTG AGGTCCCCCTGCATGGAGAGGAGGCTCACGTCGGCCTCCACCTTCGGCGC AGACACATCCACCGAGGCCTCCATGGACTTGCCTGGGGCTGACGCCCCGA ACAAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp1 HG00733.hp1	a0042 a0042	a0042c0143 a0042c0143	a0042c0143t0002 a0042c0143t0002	a0042c0143t0002g0076 a0042c0143t0002g0076	1	339	0.0029	-2454	c.204 others(9): Show c.2049_4502del	p.Leu others(14): Show p.Leu684_Pro1501del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4639/18335	2049/17388	683/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951125	GTCTTTTA others(488): Show GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGG GGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGC TGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGC TGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACT GGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00609.hp1 HG02056.hp1 HG03130.hp1 others(3): Show HG00609.hp1 HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0040 a0086 others(1): Show a0022 a0040 a0086 a0096	a0022c0020 a0040c0123 a0086c0099 others(1): Show a0022c0020 a0040c0123 a0086c0099 a0096c0121	a0022c0020t0002 a0040c0123t0005 a0086c0099t0001 others(1): Show a0022c0020t0002 a0040c0123t0005 a0086c0099t0001 a0096c0121t0002	a0022c0020t0002g0015 a0040c0123t0005g0182 a0086c0099t0001g0216 others(1): Show a0022c0020t0002g0015 a0040c0123t0005g0182 a0086c0099t0001g0216 a0096c0121t0002g0171	6	347	0.0173	-495	c.383 others(9): Show c.3831_4325del	p.His others(15): Show p.His1278_Asp1442del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4462/18335	3831/17388	1277/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951155	GTCTATTT others(488): Show GTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCA TCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGG CCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGT GGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGG AGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAG GCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAA CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCA GGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCC TGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGT CACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG02630.hp1	a0074 a0074	a0074c0103 a0074c0103	a0074c0103t0002 a0074c0103t0002	a0074c0103t0002g0080 a0074c0103t0002g0080	1	347	0.0029	-495	c.380 others(9): Show c.3801_4295del	p.Glu others(15): Show p.Glu1267_Ile1431del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4432/18335	3801/17388	1267/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951806	GGGCTGAA others(488): Show GGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGA GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCG ATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGG CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA GTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACG TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG GGCCCTTGAGGGCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTG GGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAG CTTCACATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02922.hp2 HG02922.hp2	a0082 a0082	a0082c0047 a0082c0047	a0082c0047t0001 a0082c0047t0001	a0082c0047t0001g0077 a0082c0047t0001g0077	1	354	0.0028	-495	c.315 others(9): Show c.3150_3644del	p.Ala others(15): Show p.Ala1051_Pro1215del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3781/18335	3150/17388	1050/5795		chr14	TogoVar
AHNAK_chr11_62510902_62551806	62528495	CCCTTTCA others(194): Show CCCTTTCAACTTTGCATCAGGACACTCCAGCTCAACATCAGGCACCTCCA CACCCACACTGGGACCTGTTAAATCTCCCTCCAATTTTGGCACCGACACA TCCACATCCCCTTTGACTTTGGGGCCTTTCAAGTGTAAGTCCACATCAGG CATGGAGATCTTGGGGGCCTTGAAGTGCATGTCTGGCATCTTAAATTTAG GG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01074.hp2	a0019 a0019	a0019c0042 a0019c0042	a0019c0042t0001 a0019c0042t0001	a0019c0042t0001g0060 a0019c0042t0001g0060	1	184	0.0054	-201	c.572 others(9): Show c.5721_5921del	p.Pro others(15): Show p.Pro1908_Gly1974del	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6167/18761	5721/17673	1907/5890		chr11	TogoVar
AK9_chr6_109487855_109696202	109585126	GCTT GCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(133): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19063.hp2 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0010 a0017 a0001 a0010 a0017	a0001c0003 a0001c0004 a0001c0006 others(4): Show a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0010c0017 a0010c0032 a0017c0029	a0001c0003t0001 a0001c0004t0001 a0001c0006t0003 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0003 a0001c0021t0001 a0010c0017t0001 a0010c0032t0001 a0017c0029t0001	a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(133): Show a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0180 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0001g0236 a0001c0003t0001g0238 a0001c0003t0001g0244 a0001c0003t0001g0375 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0004t0001g0104 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0173 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0222 a0001c0004t0001g0228 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0237 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0245 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0006t0003g0005 a0001c0006t0003g0006 a0001c0006t0003g0007 a0001c0006t0003g0008 a0001c0006t0003g0009 a0001c0006t0003g0010 a0001c0006t0003g0011 a0001c0006t0003g0012 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0006t0003g0015 a0001c0006t0003g0016 a0001c0006t0003g0017 a0001c0006t0003g0018 a0001c0006t0003g0019 a0001c0006t0003g0174 a0001c0021t0001g0190 a0010c0017t0001g0025 a0010c0017t0001g0026 a0010c0032t0001g0086 a0017c0029t0001g0226	136	376	0.3617	-3	c.210 others(12): Show c.2108_2110delAAG	p.Glu others(6): Show p.Glu703del	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	19/41	2177/6317	2108/5736	703/1911		chr6	TogoVar
AKAP12_chr6_151234967_151363559	151349194	AAGG AAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG02258.hp1 HG02451.hp1 others(13): Show HG00423.hp1 HG02258.hp1 HG02451.hp1 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA18906.hp2 NA18969.hp1 NA20300.hp1	a0007 a0008 a0012 a0007 a0008 a0012	a0007c0021 a0007c0022 a0007c0030 others(6): Show a0007c0021 a0007c0022 a0007c0030 a0007c0040 a0008c0016 a0008c0020 a0012c0025 a0012c0047 a0012c0048	a0007c0021t0021 a0007c0021t0048 a0007c0022t0034 others(10): Show a0007c0021t0021 a0007c0021t0048 a0007c0022t0034 a0007c0022t0035 a0007c0030t0016 a0007c0040t0040 a0008c0016t0009 a0008c0016t0043 a0008c0020t0009 a0012c0025t0021 a0012c0025t0025 a0012c0047t0011 a0012c0048t0011	a0007c0021t0021g0024 a0007c0021t0048g0019 a0007c0022t0034g0289 others(13): Show a0007c0021t0021g0024 a0007c0021t0048g0019 a0007c0022t0034g0289 a0007c0022t0035g0296 a0007c0030t0016g0017 a0007c0030t0016g0114 a0007c0040t0040g0029 a0008c0016t0009g0111 a0008c0016t0009g0246 a0008c0016t0043g0171 a0008c0020t0009g0030 a0008c0020t0009g0181 a0012c0025t0021g0016 a0012c0025t0025g0312 a0012c0047t0011g0112 a0012c0048t0011g0121	16	314	0.0510	-3	c.806 others(10): Show c.806_808delGAG	p.Gly others(6): Show p.Gly269del	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	1078/8466	806/5349	269/1782	INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH7A1_chr5_126536841_126600219	126559319	TCTGCATC others(18): Show TCTGCATCTTCAAAGGCTTAGGAAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0328 a0007c0009t0002g0328	1	378	0.0026	-25	c.914 others(35): Show c.914-10_928delCTTTCCTAAGCCTTTGAAGATGCAG	p.Ala others(13): Show p.Ala305_Ala309del	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	11/18	949/4765	914/1620	305/539		chr5	TogoVar
ALLC_chr2_3653200_3707671	3701561	GGAA GGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(137): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0006 a0007 a0008	a0002c0002 a0002c0005 a0002c0006 others(10): Show a0002c0002 a0002c0005 a0002c0006 a0002c0009 a0002c0013 a0002c0014 a0002c0015 a0003c0003 a0003c0010 a0005c0007 a0006c0008 a0007c0011 a0008c0016	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(15): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0006t0001 a0002c0006t0002 a0002c0009t0002 a0002c0013t0002 a0002c0014t0002 a0002c0015t0002 a0003c0003t0001 a0003c0003t0002 a0003c0010t0004 a0005c0007t0004 a0006c0008t0002 a0006c0008t0003 a0007c0011t0001 a0008c0016t0002	a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0070 others(122): Show a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0109 a0002c0002t0001g0142 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0162 a0002c0002t0002g0175 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0005t0001g0206 a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0215 a0002c0005t0002g0022 a0002c0005t0002g0047 a0002c0006t0001g0041 a0002c0006t0001g0141 a0002c0006t0002g0135 a0002c0009t0002g0023 a0002c0013t0002g0031 a0002c0014t0002g0218 a0002c0015t0002g0059 a0003c0003t0001g0005 a0003c0003t0001g0038 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0065 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0002g0006 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0030 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0039 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0048 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0136 a0003c0003t0002g0150 a0003c0003t0002g0153 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0163 a0003c0003t0002g0168 a0003c0003t0002g0169 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0183 a0003c0003t0002g0193 a0003c0003t0002g0211 a0003c0003t0002g0221 a0003c0010t0004g0228 a0005c0007t0004g0225 a0005c0007t0004g0226 a0005c0007t0004g0229 a0006c0008t0002g0181 a0006c0008t0003g0231 a0007c0011t0001g0124 a0008c0016t0002g0160	140	272	0.5147	-3	c.908 others(10): Show c.908_910delAAG	p.Glu others(6): Show p.Glu303del	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	11/12	1065/1441	908/1176	303/391	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73385903	TGGA TGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG01346.hp1 HG01433.hp2 others(16): Show HG00642.hp2 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02293.hp1 HG02300.hp1 HG02886.hp2 HG02976.hp1 HG03540.hp2 NA18950.hp2 NA18966.hp1 NA18971.hp2 NA19079.hp1 NA19081.hp1 NA19240.hp2	a0005 a0012 a0014 a0005 a0012 a0014	a0005c0005 a0005c0027 a0005c0058 others(2): Show a0005c0005 a0005c0027 a0005c0058 a0012c0029 a0014c0028	a0005c0005t0001 a0005c0027t0001 a0005c0058t0001 others(2): Show a0005c0005t0001 a0005c0027t0001 a0005c0058t0001 a0012c0029t0001 a0014c0028t0001	a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(16): Show a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0027t0001g0007 a0005c0027t0001g0166 a0005c0058t0001g0110 a0012c0029t0001g0119 a0012c0029t0001g0120 a0014c0028t0001g0009 a0014c0028t0001g0010	19	34	0.5588	-3	c.72_ others(8): Show c.72_74delGGA	p.Glu others(5): Show p.Glu25del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	105/12844	72/12507	24/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73385903	TGGAGGA TGGAGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(131): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19074.hp2 NA19081.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0013 a0016 a0018 a0021 a0023	a0001c0003 a0001c0004 a0001c0011 others(41): Show a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0003c0002 a0003c0036 a0003c0037 a0004c0007 a0004c0008 a0004c0010 a0004c0032 a0004c0057 a0013c0044 a0013c0045 a0016c0046 a0018c0033 a0021c0034 a0023c0035	a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 others(41): Show a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0042t0002 a0001c0043t0002 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0002 a0001c0054t0001 a0001c0055t0001 a0001c0056t0002 a0003c0002t0001 a0003c0036t0001 a0003c0037t0001 a0004c0007t0001 a0004c0008t0001 a0004c0010t0001 a0004c0032t0001 a0004c0057t0001 a0013c0044t0002 a0013c0045t0002 a0016c0046t0001 a0018c0033t0001 a0021c0034t0001 a0023c0035t0001	a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(131): Show a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0091 a0001c0004t0001g0005 a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0239 a0001c0004t0001g0247 a0001c0011t0001g0004 a0001c0011t0001g0006 a0001c0011t0001g0045 a0001c0011t0001g0046 a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 a0001c0012t0001g0209 a0001c0013t0001g0240 a0001c0013t0001g0241 a0001c0013t0001g0243 a0001c0013t0001g0245 a0001c0018t0001g0055 a0001c0018t0001g0057 a0001c0019t0002g0065 a0001c0019t0002g0090 a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0021t0001g0034 a0001c0021t0001g0035 a0001c0022t0001g0200 a0001c0022t0001g0201 a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 a0001c0024t0001g0199 a0001c0025t0001g0048 a0001c0025t0001g0054 a0001c0026t0001g0242 a0001c0026t0001g0244 a0001c0038t0001g0056 a0001c0039t0001g0037 a0001c0040t0001g0207 a0001c0041t0001g0094 a0001c0042t0002g0089 a0001c0043t0002g0072 a0001c0047t0001g0047 a0001c0048t0001g0197 a0001c0049t0001g0042 a0001c0050t0001g0246 a0001c0051t0001g0210 a0001c0052t0001g0044 a0001c0053t0002g0051 a0001c0054t0001g0193 a0001c0055t0001g0194 a0001c0056t0002g0087 a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0092 a0003c0002t0001g0093 a0003c0036t0001g0027 a0003c0037t0001g0032 a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0101 a0004c0007t0001g0102 a0004c0007t0001g0228 a0004c0007t0001g0229 a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 a0004c0008t0001g0234 a0004c0008t0001g0235 a0004c0008t0001g0237 a0004c0010t0001g0097 a0004c0010t0001g0100 a0004c0010t0001g0103 a0004c0010t0001g0104 a0004c0032t0001g0236 a0004c0057t0001g0105 a0013c0044t0002g0069 a0013c0045t0002g0062 a0016c0046t0001g0230 a0018c0033t0001g0238 a0021c0034t0001g0025 a0023c0035t0001g0016	134	149	0.8993	-6	c.69_ others(11): Show c.69_74delGGAGGA	p.Glu others(11): Show p.Glu24_Glu25del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	102/12844	69/12507	23/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73385903	TGGAGGAG others(8): Show TGGAGGAGGAGGAGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show HG02055.hp2 HG02717.hp2 HG03540.hp1 NA19030.hp2	a0010 a0019 a0010 a0019	a0010c0017 a0010c0030 a0019c0031 a0010c0017 a0010c0030 a0019c0031	a0010c0017t0003 a0010c0030t0001 a0019c0031t0001 a0010c0017t0003 a0010c0030t0001 a0019c0031t0001	a0010c0017t0003g0224 a0010c0017t0003g0225 a0010c0030t0001g0227 others(1): Show a0010c0017t0003g0224 a0010c0017t0003g0225 a0010c0030t0001g0227 a0019c0031t0001g0226	4	19	0.2105	-15	c.60_ others(20): Show c.60_74delGGAGGAGGAGGAGGA	p.Glu others(11): Show p.Glu21_Glu25del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/23	93/12844	60/12507	20/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448097	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19074.hp2 NA19081.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0007 others(7): Show a0001 a0003 a0007 a0008 a0012 a0013 a0014 a0016 a0020 a0023	a0001c0003 a0001c0004 a0001c0011 others(43): Show a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0003c0002 a0003c0036 a0003c0037 a0007c0009 a0007c0061 a0008c0062 a0008c0063 a0008c0064 a0008c0065 a0012c0029 a0013c0044 a0013c0045 a0014c0028 a0016c0046 a0020c0075 a0023c0035	a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 others(43): Show a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0042t0002 a0001c0043t0002 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0002 a0001c0054t0001 a0001c0055t0001 a0001c0056t0002 a0003c0002t0001 a0003c0036t0001 a0003c0037t0001 a0007c0009t0001 a0007c0061t0001 a0008c0062t0001 a0008c0063t0001 a0008c0064t0001 a0008c0065t0001 a0012c0029t0001 a0013c0044t0002 a0013c0045t0002 a0014c0028t0001 a0016c0046t0001 a0020c0075t0001 a0023c0035t0001	a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(126): Show a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0091 a0001c0004t0001g0005 a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0239 a0001c0004t0001g0247 a0001c0011t0001g0004 a0001c0011t0001g0006 a0001c0011t0001g0045 a0001c0011t0001g0046 a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 a0001c0012t0001g0209 a0001c0013t0001g0240 a0001c0013t0001g0241 a0001c0013t0001g0243 a0001c0013t0001g0245 a0001c0018t0001g0055 a0001c0018t0001g0057 a0001c0019t0002g0065 a0001c0019t0002g0090 a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0021t0001g0034 a0001c0021t0001g0035 a0001c0022t0001g0200 a0001c0022t0001g0201 a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 a0001c0024t0001g0199 a0001c0025t0001g0048 a0001c0025t0001g0054 a0001c0026t0001g0242 a0001c0026t0001g0244 a0001c0038t0001g0056 a0001c0039t0001g0037 a0001c0040t0001g0207 a0001c0041t0001g0094 a0001c0042t0002g0089 a0001c0043t0002g0072 a0001c0047t0001g0047 a0001c0048t0001g0197 a0001c0049t0001g0042 a0001c0050t0001g0246 a0001c0051t0001g0210 a0001c0052t0001g0044 a0001c0053t0002g0051 a0001c0054t0001g0193 a0001c0055t0001g0194 a0001c0056t0002g0087 a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0092 a0003c0002t0001g0093 a0003c0036t0001g0027 a0003c0037t0001g0032 a0007c0009t0001g0174 a0007c0009t0001g0175 a0007c0009t0001g0184 a0007c0009t0001g0185 a0007c0009t0001g0187 a0007c0009t0001g0189 a0007c0061t0001g0183 a0008c0062t0001g0121 a0008c0063t0001g0191 a0008c0064t0001g0050 a0008c0065t0001g0205 a0012c0029t0001g0119 a0012c0029t0001g0120 a0013c0044t0002g0069 a0013c0045t0002g0062 a0014c0028t0001g0009 a0014c0028t0001g0010 a0016c0046t0001g0230 a0020c0075t0001g0215 a0023c0035t0001g0016	129	246	0.5244	-3	c.157 others(12): Show c.1574_1576delCTC	p.Pro others(6): Show p.Pro525del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	1607/12844	1574/12507	525/4168	INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7001614	AACCCCAG others(26): Show AACCCCAGCTCTCCAACCCCAACACTGTTCCTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18939.hp1 NA18939.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0074 a0008c0020t0001g0074	1	402	0.0025	-33	c.965 others(40): Show c.965_997delACCCCAGCTCTCCAACCCCAACACTGTTCCTGC	p.Asn others(19): Show p.Asn322_Pro333delinsThr	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/14	1034/2392	965/1992	322/663		chr17	TogoVar
ALPK2_chr18_58476247_58634091	58536020	AAAG AAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01934.hp2 HG02683.hp2 HG03654.hp2 HG03927.hp2 NA19056.hp2	a0010 a0017 a0030 others(2): Show a0010 a0017 a0030 a0033 a0041	a0010c0011 a0010c0063 a0017c0026 others(3): Show a0010c0011 a0010c0063 a0017c0026 a0030c0066 a0033c0047 a0041c0089	a0010c0011t0003 a0010c0011t0007 a0010c0063t0007 others(6): Show a0010c0011t0003 a0010c0011t0007 a0010c0063t0007 a0017c0026t0001 a0017c0026t0003 a0017c0026t0017 a0030c0066t0001 a0033c0047t0002 a0041c0089t0001	a0010c0011t0003g0259 a0010c0011t0007g0082 a0010c0011t0007g0083 others(9): Show a0010c0011t0003g0259 a0010c0011t0007g0082 a0010c0011t0007g0083 a0010c0011t0007g0084 a0010c0011t0007g0085 a0010c0063t0007g0069 a0017c0026t0001g0129 a0017c0026t0003g0123 a0017c0026t0017g0064 a0030c0066t0001g0273 a0033c0047t0002g0005 a0041c0089t0001g0156	12	318	0.0377	-3	c.416 others(12): Show c.4164_4166delCTT	p.Phe others(7): Show p.Phe1389del	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	5/13	4514/7437	4164/6513	1388/2170		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58537155	ACAGTTGA others(8): Show ACAGTTGATGTGTCCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0006 others(10): Show a0001 a0003 a0006 a0013 a0014 a0015 a0016 a0025 a0027 a0028 a0032 a0035 a0044	a0001c0002 a0001c0014 a0001c0023 others(40): Show a0001c0002 a0001c0014 a0001c0023 a0001c0077 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0092 a0001c0093 a0003c0004 a0003c0018 a0003c0019 a0003c0020 a0003c0021 a0003c0053 a0003c0054 a0003c0055 a0003c0056 a0003c0067 a0003c0068 a0006c0009 a0006c0013 a0006c0042 a0006c0043 a0006c0044 a0013c0025 a0013c0036 a0014c0022 a0014c0072 a0015c0017 a0015c0052 a0016c0030 a0016c0050 a0025c0090 a0025c0091 a0027c0038 a0028c0076 a0028c0078 a0032c0084 a0035c0065 a0044c0075	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(71): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0014t0001 a0001c0014t0004 a0001c0014t0020 a0001c0023t0001 a0001c0023t0010 a0001c0023t0013 a0001c0077t0005 a0001c0079t0001 a0001c0080t0001 a0001c0081t0005 a0001c0082t0005 a0001c0083t0010 a0001c0092t0003 a0001c0093t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0011 a0003c0004t0018 a0003c0004t0021 a0003c0018t0005 a0003c0018t0012 a0003c0019t0002 a0003c0019t0005 a0003c0019t0022 a0003c0020t0002 a0003c0020t0003 a0003c0020t0008 a0003c0021t0001 a0003c0021t0006 a0003c0053t0001 a0003c0054t0005 a0003c0055t0005 a0003c0056t0006 a0003c0067t0009 a0003c0068t0002 a0006c0009t0001 a0006c0009t0003 a0006c0009t0006 a0006c0013t0005 a0006c0013t0009 a0006c0042t0001 a0006c0043t0008 a0006c0044t0002 a0013c0025t0010 a0013c0025t0014 a0013c0036t0003 a0013c0036t0013 a0014c0022t0004 a0014c0072t0003 a0015c0017t0010 a0015c0017t0012 a0015c0017t0023 a0015c0052t0013 a0016c0030t0001 a0016c0030t0006 a0016c0050t0006 a0025c0090t0001 a0025c0091t0003 a0027c0038t0004 a0028c0076t0010 a0028c0078t0008 a0032c0084t0004 a0035c0065t0011 a0044c0075t0002	a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(134): Show a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0166 a0001c0002t0001g0174 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0200 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0246 a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0072 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0148 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0301 a0001c0002t0003g0318 a0001c0002t0004g0121 a0001c0002t0004g0280 a0001c0002t0004g0297 a0001c0002t0005g0289 a0001c0002t0005g0307 a0001c0002t0007g0061 a0001c0002t0007g0075 a0001c0014t0001g0249 a0001c0014t0004g0132 a0001c0014t0004g0133 a0001c0014t0020g0089 a0001c0023t0001g0137 a0001c0023t0010g0097 a0001c0023t0013g0092 a0001c0077t0005g0271 a0001c0079t0001g0220 a0001c0080t0001g0300 a0001c0081t0005g0269 a0001c0082t0005g0175 a0001c0083t0010g0103 a0001c0092t0003g0320 a0001c0093t0001g0140 a0003c0004t0001g0154 a0003c0004t0001g0208 a0003c0004t0001g0216 a0003c0004t0001g0229 a0003c0004t0001g0235 a0003c0004t0001g0260 a0003c0004t0001g0302 a0003c0004t0002g0034 a0003c0004t0002g0035 a0003c0004t0002g0067 a0003c0004t0002g0068 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0003g0130 a0003c0004t0003g0184 a0003c0004t0003g0226 a0003c0004t0003g0227 a0003c0004t0003g0253 a0003c0004t0003g0310 a0003c0004t0003g0311 a0003c0004t0004g0165 a0003c0004t0004g0207 a0003c0004t0004g0209 a0003c0004t0004g0256 a0003c0004t0005g0228 a0003c0004t0006g0027 a0003c0004t0006g0037 a0003c0004t0011g0094 a0003c0004t0018g0025 a0003c0004t0021g0117 a0003c0018t0005g0144 a0003c0018t0005g0158 a0003c0018t0012g0098 a0003c0019t0002g0051 a0003c0019t0005g0141 a0003c0019t0022g0233 a0003c0020t0002g0015 a0003c0020t0003g0258 a0003c0020t0008g0143 a0003c0021t0001g0274 a0003c0021t0001g0275 a0003c0021t0006g0066 a0003c0053t0001g0309 a0003c0054t0005g0152 a0003c0055t0005g0163 a0003c0056t0006g0087 a0003c0067t0009g0042 a0003c0068t0002g0076 a0006c0009t0001g0290 a0006c0009t0003g0306 a0006c0009t0006g0008 a0006c0009t0006g0012 a0006c0009t0006g0016 a0006c0013t0005g0224 a0006c0013t0009g0006 a0006c0013t0009g0010 a0006c0013t0009g0014 a0006c0042t0001g0244 a0006c0043t0008g0159 a0006c0044t0002g0009 a0013c0025t0010g0110 a0013c0025t0014g0109 a0013c0025t0014g0111 a0013c0036t0003g0319 a0013c0036t0013g0107 a0014c0022t0004g0138 a0014c0022t0004g0145 a0014c0022t0004g0150 a0014c0072t0003g0161 a0015c0017t0010g0105 a0015c0017t0012g0096 a0015c0017t0023g0139 a0015c0052t0013g0115 a0016c0030t0001g0242 a0016c0030t0006g0081 a0016c0050t0006g0080 a0025c0090t0001g0131 a0025c0091t0003g0134 a0027c0038t0004g0281 a0027c0038t0004g0282 a0028c0076t0010g0113 a0028c0078t0008g0284 a0032c0084t0004g0199 a0035c0065t0011g0095 a0044c0075t0002g0046	137	318	0.4308	-15	c.301 others(24): Show c.3017_3031delAGGACACATCAACTG	p.Glu others(15): Show p.Glu1006_Thr1010del	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	5/13	3379/7437	3017/6513	1006/2170		chr18	TogoVar
ALX4_chr11_44255440_44315139	44309737	TGCTGCGG others(5): Show TGCTGCGGCTGCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp2 HG02572.hp2 HG02922.hp1 others(8): Show HG01243.hp2 HG02572.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2	a0004 a0004	a0004c0009 a0004c0022 a0004c0023 others(1): Show a0004c0009 a0004c0022 a0004c0023 a0004c0024	a0004c0009t0007 a0004c0009t0009 a0004c0009t0011 others(5): Show a0004c0009t0007 a0004c0009t0009 a0004c0009t0011 a0004c0009t0013 a0004c0009t0016 a0004c0022t0009 a0004c0023t0044 a0004c0024t0001	a0004c0009t0007g0171 a0004c0009t0009g0169 a0004c0009t0009g0170 others(8): Show a0004c0009t0007g0171 a0004c0009t0009g0169 a0004c0009t0009g0170 a0004c0009t0009g0173 a0004c0009t0009g0175 a0004c0009t0011g0177 a0004c0009t0013g0172 a0004c0009t0016g0176 a0004c0022t0009g0167 a0004c0023t0044g0168 a0004c0024t0001g0174	11	386	0.0285	-12	c.314 others(19): Show c.314_325delCGCAGCCGCAGC	p.Pro others(13): Show p.Pro105_Gln108del	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	402/5727	314/1236	105/411		chr11	TogoVar
AMBN_chr4_70587256_70612288	70602628	CAGG CAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00323.hp1 HG00597.hp1 others(51): Show HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00609.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp2 HG02647.hp2 HG02922.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18967.hp2 NA18970.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA20300.hp2 NA20805.hp2	a0002 a0016 a0020 a0002 a0016 a0020	a0002c0002 a0002c0008 a0002c0025 others(2): Show a0002c0002 a0002c0008 a0002c0025 a0016c0024 a0020c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0008t0001 a0002c0008t0002 a0002c0025t0004 a0016c0024t0006 a0020c0023t0001	a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0028 others(33): Show a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0104 a0002c0002t0001g0139 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0002g0028 a0002c0002t0002g0089 a0002c0002t0002g0120 a0002c0002t0002g0141 a0002c0002t0002g0168 a0002c0002t0003g0012 a0002c0002t0003g0082 a0002c0002t0004g0136 a0002c0002t0006g0230 a0002c0008t0001g0059 a0002c0008t0001g0172 a0002c0008t0001g0173 a0002c0008t0002g0206 a0002c0025t0004g0161 a0016c0024t0006g0140 a0020c0023t0001g0059	54	478	0.1130	-3	c.539 others(10): Show c.539_541delGAG	p.Gly others(6): Show p.Gly180del	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	7/13	642/2005	539/1344	180/447	INFO_REALIGN_3_PRIME	chr4	TogoVar
AMOT_chrX_112769877_112845831	112779389	GCTGGAGC others(20): Show GCTGGAGCAGCAGCAGCAGCAACAGCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0006 a0003c0006t0001g0006	2	268	0.0075	-27	c.273 others(36): Show c.2738_2764delTTGCTGTTGCTGCTGCTGCTGCTCCAG	p.Val others(13): Show p.Val913_Pro921del	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	13/14	3432/7613	2738/3255	913/1084		chrX	TogoVar
ANAPC7_chr12_110367900_110408708	110381771	ACAAGGTG others(5): Show ACAAGGTGCGAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0228 a0003c0005t0001g0228	1	296	0.0034	-12	c.110 others(21): Show c.1101_1112delGCTCGCACCTTG	p.Leu others(13): Show p.Leu368_Cys371del	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	8/11	1193/3023	1101/1698	367/565		chr12	TogoVar
ANKRD24_chr19_4177689_4229814	4217382	GGGAGGCA others(11): Show GGGAGGCAGCTGCGGAGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19078.hp1 NA19078.hp1	a0039 a0039	a0039c0032 a0039c0032	a0039c0032t0002 a0039c0032t0002	a0039c0032t0002g0269 a0039c0032t0002g0269	1	354	0.0028	-18	c.222 others(27): Show c.2229_2246delAGCTGCGGAGCTGGAGGC	p.Ala others(13): Show p.Ala744_Ala749del	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	18/22	2317/3838	2229/3441	743/1146	INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD26_chr10_26999116_27105494	27053356	CTCT CTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 HG02738.hp1 HG03704.hp1 others(40): Show HG02015.hp2 HG02738.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18968.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0032 a0003c0033 a0003c0003 a0003c0032 a0003c0033	a0003c0003t0003 a0003c0003t0010 a0003c0032t0003 others(1): Show a0003c0003t0003 a0003c0003t0010 a0003c0032t0003 a0003c0033t0003	a0003c0003t0003g0005 a0003c0003t0003g0246 a0003c0003t0003g0250 others(39): Show a0003c0003t0003g0005 a0003c0003t0003g0246 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0256 a0003c0003t0003g0294 a0003c0003t0003g0295 a0003c0003t0003g0296 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0300 a0003c0003t0003g0301 a0003c0003t0003g0302 a0003c0003t0003g0303 a0003c0003t0003g0304 a0003c0003t0003g0305 a0003c0003t0003g0306 a0003c0003t0003g0307 a0003c0003t0003g0308 a0003c0003t0003g0309 a0003c0003t0003g0310 a0003c0003t0003g0312 a0003c0003t0003g0313 a0003c0003t0003g0314 a0003c0003t0003g0315 a0003c0003t0003g0316 a0003c0003t0003g0317 a0003c0003t0003g0318 a0003c0003t0003g0327 a0003c0003t0003g0329 a0003c0003t0003g0330 a0003c0003t0003g0331 a0003c0003t0003g0332 a0003c0003t0003g0333 a0003c0003t0003g0334 a0003c0003t0010g0045 a0003c0032t0003g0311 a0003c0033t0003g0328	43	356	0.1208	-3	c.159 others(12): Show c.1596_1598delAGA	p.Glu others(6): Show p.Glu533del	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding	16/34	1766/6775	1596/5133	532/1710		chr10	TogoVar
ANKRD31_chr5_75063297_75241878	75195890	TTCA TTCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(217): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0012	a0001c0002 a0001c0004 a0001c0005 others(26): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0003c0003 a0003c0006 a0003c0012 a0003c0025 a0003c0028 a0003c0029 a0004c0007 a0004c0017 a0004c0035 a0005c0008 a0006c0010 a0006c0037 a0008c0013 a0009c0033 a0009c0034 a0012c0036	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(32): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0001c0009t0003 a0001c0011t0001 a0001c0018t0001 a0001c0019t0003 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0007 a0001c0026t0001 a0001c0027t0001 a0003c0003t0001 a0003c0006t0001 a0003c0006t0003 a0003c0006t0004 a0003c0012t0001 a0003c0025t0001 a0003c0028t0001 a0003c0029t0001 a0004c0007t0001 a0004c0017t0001 a0004c0035t0001 a0005c0008t0001 a0005c0008t0010 a0006c0010t0001 a0006c0037t0001 a0008c0013t0001 a0009c0033t0001 a0009c0034t0001 a0012c0036t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 others(208): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0008g0070 a0001c0004t0001g0009 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0286 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0295 a0001c0005t0001g0010 a0001c0005t0001g0297 a0001c0005t0001g0298 a0001c0005t0001g0299 a0001c0005t0001g0300 a0001c0005t0001g0301 a0001c0005t0001g0302 a0001c0005t0001g0303 a0001c0005t0001g0304 a0001c0005t0001g0305 a0001c0005t0001g0306 a0001c0005t0001g0307 a0001c0009t0001g0155 a0001c0009t0001g0156 a0001c0009t0001g0157 a0001c0009t0001g0158 a0001c0009t0001g0159 a0001c0009t0001g0160 a0001c0009t0001g0161 a0001c0009t0001g0311 a0001c0009t0001g0312 a0001c0009t0003g0017 a0001c0011t0001g0036 a0001c0011t0001g0037 a0001c0011t0001g0039 a0001c0011t0001g0043 a0001c0018t0001g0319 a0001c0018t0001g0320 a0001c0019t0003g0016 a0001c0020t0001g0076 a0001c0021t0001g0310 a0001c0022t0001g0086 a0001c0024t0007g0021 a0001c0026t0001g0285 a0001c0027t0001g0296 a0003c0003t0001g0006 a0003c0003t0001g0058 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0167 a0003c0003t0001g0309 a0003c0006t0001g0053 a0003c0006t0001g0054 a0003c0006t0001g0059 a0003c0006t0001g0060 a0003c0006t0001g0061 a0003c0006t0001g0162 a0003c0006t0001g0163 a0003c0006t0001g0164 a0003c0006t0001g0308 a0003c0006t0003g0018 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0012t0001g0093 a0003c0012t0001g0100 a0003c0012t0001g0101 a0003c0012t0001g0102 a0003c0025t0001g0092 a0003c0028t0001g0091 a0003c0029t0001g0113 a0004c0007t0001g0144 a0004c0007t0001g0145 a0004c0007t0001g0146 a0004c0007t0001g0147 a0004c0007t0001g0148 a0004c0007t0001g0149 a0004c0007t0001g0150 a0004c0007t0001g0151 a0004c0007t0001g0152 a0004c0007t0001g0153 a0004c0007t0001g0154 a0004c0017t0001g0169 a0004c0017t0001g0170 a0004c0035t0001g0143 a0005c0008t0001g0168 a0005c0008t0001g0171 a0005c0008t0001g0172 a0005c0008t0001g0173 a0005c0008t0001g0174 a0005c0008t0001g0175 a0005c0008t0001g0176 a0005c0008t0001g0177 a0005c0008t0001g0178 a0005c0008t0001g0179 a0005c0008t0010g0321 a0006c0010t0001g0011 a0006c0010t0001g0314 a0006c0010t0001g0315 a0006c0010t0001g0316 a0006c0010t0001g0317 a0006c0037t0001g0313 a0008c0013t0001g0004 a0008c0013t0001g0049 a0009c0033t0001g0166 a0009c0034t0001g0165 a0012c0036t0001g0318	220	332	0.6627	-3	c.755 others(10): Show c.755_757delTGA	p.Met others(6): Show p.Met252del	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	7/26	949/6207	755/5793	252/1930		chr5	TogoVar
ANKRD33_chr12_51883103_51896727	51890755	TGGCCCAG others(5): Show TGGCCCAGGCCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00323.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0006 a0008c0023t0003g0006	1	444	0.0023	-12	c.824 others(19): Show c.824_835delCCCAGGCCCAGG	p.Ala others(13): Show p.Ala275_Gln278del	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	908/1865	824/1359	275/452	INFO_REALIGN_3_PRIME	chr12	TogoVar
ANKRD36_chr2_97108153_97269521	97124506	ATTC ATTC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG02040.hp2 NA18612.hp2 HG00423.hp2 HG02040.hp2 NA18612.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0007 a0014c0015t0001g0099 a0014c0015t0001g0100 a0014c0015t0001g0007 a0014c0015t0001g0099 a0014c0015t0001g0100	3	210	0.0143	-3	c.648 others(10): Show c.648_650delTCT	p.Leu others(6): Show p.Leu217del	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	5/76	1235/6534	648/5748	216/1915	INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70984703	AGCCCGGG others(5): Show AGCCCGGGCCACC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18951.hp2 NA18970.hp1 NA18951.hp2 NA18970.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0002 a0014c0021t0002g0002	2	448	0.0045	-12	c.100 others(21): Show c.1001_1012delGGGCCACCGCCC	p.Arg others(13): Show p.Arg334_Ala337del	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1017/1808	1001/1593	334/530	INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70984816	TGCCCAA TGCCCAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02257.hp2 HG02559.hp1 others(5): Show HG01884.hp1 HG02257.hp2 HG02559.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0012 a0006c0009t0002g0034 a0006c0009t0002g0012 a0006c0009t0002g0034	8	448	0.0179	-6	c.111 others(15): Show c.1115_1120delAGCCCA	p.Lys others(13): Show p.Lys372_Pro373del	ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6	1131/1808	1115/1593	372/530	INFO_REALIGN_3_PRIME	chr2	TogoVar
ANP32E_chr1_150213417_150241112	150226707	CTCCTCT CTCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(148): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02896.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0008 a0004c0006 a0002c0001 a0002c0008 a0004c0006	a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 others(10): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 a0002c0001t0008 a0002c0001t0011 a0002c0001t0017 a0002c0001t0018 a0002c0001t0019 a0002c0001t0021 a0002c0001t0023 a0002c0001t0024 a0002c0008t0001 a0004c0006t0002	a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0015 others(137): Show a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0070 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0089 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0300 a0002c0001t0002g0053 a0002c0001t0002g0077 a0002c0001t0002g0094 a0002c0001t0002g0110 a0002c0001t0002g0123 a0002c0001t0002g0168 a0002c0001t0007g0059 a0002c0001t0007g0084 a0002c0001t0007g0088 a0002c0001t0007g0100 a0002c0001t0007g0101 a0002c0001t0008g0175 a0002c0001t0011g0079 a0002c0001t0011g0090 a0002c0001t0017g0157 a0002c0001t0018g0060 a0002c0001t0019g0071 a0002c0001t0021g0301 a0002c0001t0023g0177 a0002c0001t0024g0161 a0002c0008t0001g0315 a0004c0006t0002g0049	151	368	0.4103	-6	c.576 others(13): Show c.576_581delAGAGGA	p.Glu others(13): Show p.Glu193_Glu194del	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	5/7	907/3407	576/807	192/268		chr1	TogoVar
AP3B1_chr5_77997326_78299698	78015515	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show HG01884.hp1 HG01884.hp2 HG02451.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0003 a0003	a0003c0007 a0003c0008 a0003c0009 a0003c0007 a0003c0008 a0003c0009	a0003c0007t0002 a0003c0008t0002 a0003c0009t0002 a0003c0007t0002 a0003c0008t0002 a0003c0009t0002	a0003c0007t0002g0052 a0003c0007t0002g0079 a0003c0007t0002g0080 others(9): Show a0003c0007t0002g0052 a0003c0007t0002g0079 a0003c0007t0002g0080 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0162 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039 a0003c0009t0002g0066 a0003c0009t0002g0078	12	224	0.0536	-3	c.302 others(12): Show c.3023_3025delCTG	p.Ala others(7): Show p.Ala1008del	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	26/27	3144/3980	3023/3285	1008/1094		chr5	TogoVar
AP3B2_chr15_82654281_82714875	82664387	CTCCTCA CTCCTCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 NA18944.hp2 NA18954.hp1 others(3): Show HG00438.hp2 NA18944.hp2 NA18954.hp1 NA18961.hp1 NA18987.hp2 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0087 a0002c0003t0001g0088 others(3): Show a0002c0003t0001g0022 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091	6	366	0.0164	-6	c.223 others(15): Show c.2235_2240delTGAGGA	p.Asp others(13): Show p.Asp745_Glu746del	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	19/27	2409/3754	2235/3306	745/1101		chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26567284	CCCG CCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp2 HG02922.hp2 HG03041.hp1 others(1): Show HG02622.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2	a0004 a0004	a0004c0005 a0004c0013 a0004c0005 a0004c0013	a0004c0005t0002 a0004c0013t0002 a0004c0005t0002 a0004c0013t0002	a0004c0005t0002g0295 a0004c0005t0002g0304 a0004c0005t0002g0305 others(1): Show a0004c0005t0002g0295 a0004c0005t0002g0304 a0004c0005t0002g0305 a0004c0013t0002g0296	4	353	0.0113	-3	c.181 others(12): Show c.1815_1817delGCC	p.Pro others(6): Show p.Pro606del	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	15/15	2132/2633	1815/2001	605/666	INFO_REALIGN_3_PRIME	chr10	TogoVar
APC2_chr19_1445121_1478244	1468799	CGAGCCCC others(17): Show CGAGCCCCGGGCAGCAGCGGTCGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18944.hp1 NA18944.hp1	a0025 a0025	a0025c0049 a0025c0049	a0025c0049t0010 a0025c0049t0010	a0025c0049t0010g0003 a0025c0049t0010g0003	1	348	0.0029	-24	c.550 others(33): Show c.5504_5527delCCGGGCAGCAGCGGTCGCGGAGCC	p.Pro others(15): Show p.Pro1835_Ser1842del	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	15/15	5740/10179	5504/6912	1835/2303	INFO_REALIGN_3_PRIME	chr19	TogoVar
APC_chr5_112732885_112851239	112839053	TGAA TGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02486.hp2 HG02572.hp2 HG01243.hp1 HG02486.hp2 HG02572.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0103 a0004c0009t0002g0106 a0004c0009t0002g0107 a0004c0009t0002g0103 a0004c0009t0002g0106 a0004c0009t0002g0107	3	292	0.0103	-3	c.346 others(12): Show c.3468_3470delAGA	p.Glu others(7): Show p.Glu1157del	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	3527/10704	3468/8532	1156/2843	INFO_REALIGN_3_PRIME	chr5	TogoVar
APLF_chr2_68462585_68585162	68538002	AAAG AAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01109.hp2 HG01192.hp2 others(2): Show HG00639.hp2 HG01109.hp2 HG01192.hp2 HG02738.hp2 HG04228.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0014 a0005c0005t0001 a0005c0005t0014	a0005c0005t0001g0143 a0005c0005t0001g0148 a0005c0005t0001g0152 others(2): Show a0005c0005t0001g0143 a0005c0005t0001g0148 a0005c0005t0001g0152 a0005c0005t0001g0153 a0005c0005t0014g0141	5	174	0.0287	-3	c.938 others(10): Show c.938_940delGAA	p.Arg others(6): Show p.Arg313del	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	7/10	1085/3823	938/1536	313/511	INFO_REALIGN_3_PRIME	chr2	TogoVar

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