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	distance	status	chr	external
AHNAK2_chr14_104932253_104983374	104945398	GAGGTCCC others(983): Show GAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCGCCTTCGGCG CAGACACATCCACCGAGGCCTGGATGGACTTGCCTGGGGCAGACGCCCTG TACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCA ACTTGGCTCCTGGGGCCTCGACGTCCACCTCCATGCTGGGCTGAGACACC TCCACGTCGGGGGCCGTCACATCCATCTTCGGGCCTTTCAGGTCCAGCTT GGGGCCCTTGATGTCTATCTGGGGGCCCTTGCGATCTACTTTGGGCATCT TGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCC TCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCCTGGAC CTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTTCAGGT CCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCTCCACCTTTGGCGCAGAC ACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGA CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT CCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTG GCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCTCCAC GTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGC CCTTGACATCTATCTGGGGTCCCTTGCGATCTACTTTGGGCATCTTGAAA CTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGG AACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCTGGACCTCCA GTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC	G G	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.906 others(10): Show c.9063_10052del	p.Lys others(15): Show p.Lys3022_Leu3351del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10189/18335	9063/17388	3021/5795			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	104949849	TCTTGAGG others(983): Show TCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC GGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTG TCCAGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGA CACCTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGC ATCTTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGC TCCCTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCT GGACCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC AGGTCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTC AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAA ATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAG CTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCT TCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTT GAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT CGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACC TCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG02647.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG02647.hp1 HG02809.hp1	a0021 a0080 a0021 a0080	a0021c0023 a0021c0062 a0080c0061 a0021c0023 a0021c0062 a0080c0061	a0021c0023t0001 a0021c0062t0001 a0080c0061t0001 a0021c0023t0001 a0021c0062t0001 a0080c0061t0001	a0021c0023t0001g0021 a0021c0062t0001g0107 a0080c0061t0001g0106 a0021c0023t0001g0021 a0021c0062t0001g0107 a0080c0061t0001g0106	4	351	0.0114	-990	c.461 others(9): Show c.4612_5601del	p.Ala others(15): Show p.Ala1538_Lys1867del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5738/18335	4612/17388	1538/5795			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	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	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	104951367	TGTCGGCC others(983): Show TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCG GCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCC TGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACC TGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCC AGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCAC GCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGC TTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGG GCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCC TTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCA CCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGG TCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0021 a0021c0023t0001g0021	2	345	0.0058	-990	c.309 others(9): Show c.3094_4083del	p.Leu others(15): Show p.Leu1032_Asp1361del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4220/18335	3094/17388	1032/5795			chr14	TogoVar
C1QBP_chr17_5427777_5444155	5435768	GCCTGTAA others(983): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACACGATGAAACTCCATCTCTACTAA AAAATACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGTACG CGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAA CCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAG CCTGGAGACACAGCAAGACTCTGTCAGAAAAAAAAAAAAAAAAAAAAGAG TACATGAAGTGCCGCCCTCCACTTGTGCTAACTAGCTGCTCTGCCAGGAA GCCACCTTTCCATGGCAACAGAGGCAGTCTGAGGTTGACAAAATCTGTCT AATTCCAACTGTGCTGACTAAGCTGAGCTCCTGGGCACAGAAATTGAATG ACGTTCATCAGAGCATTATTTTTAATGGCCCCCAAATAGCTATGAAAACC TTGCGCAAATGGTGTTTAGGTGAGATTACAGAAGACACAATTGACCTGTG TAGGGCAAAAACACACTATGCAACAGGCAAGAGAATCAGGACCCTACTTC ACACCATATTCAAAATGAATCACAGACCTAAACTAAGAGCTAAAACTAGA AAACTTTGAAAAAATTAAGGCATACATCTTCACAACCTTGGGTTAGGCAG TGGTTTCTTAGACGTGACACTAAAAAAGCACAAGTTGCACTTGGTGAATT AGAAGCAAAGTAAAAAATAAATAAAAAAGCACAAGCGACCAAAAAAATAG GTAAACTGAACTTCCTCAAAATTAAAAACTTTTGTGTCAGAGGACATTAC CAAGAAAGTGAAAAGGAAACCCACAAGATGGGAAACAGTACTTACAAATC ATTAATTTGATAAGATAGTTGTACCCAGAAAAACTTAACTTTTACAACCC AACAATTAAAAAGGTAAATAGGGTGGGCAGGGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02486.hp2 others(6): Show HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02895.hp2 HG02970.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0006g0056	9	406	0.0222	-990	c.383 others(16): Show c.383+1365_384-803del		C1QBP	ENSG00000108561.8	transcript	ENST00000225698.8	protein_coding	2/5						chr17	TogoVar
CPAMD8_chr19_16887951_17031810	17030820	CACTAGCA others(983): Show CACTAGCATGGCCCGGTCATCCAGTTTGACTGCATGGTACACAAAACACA GAGCATGGTCTTATTATTCCATACACATCTGCTTCCTGTCTGTCTTCTTT GGGATGTGAGCCCCCCGTTTGCTGCTGGCCGCAGCCCCTGGCTCAAAGTG GGCACACCTCACACAGATTACTGCCTCATCAGCACACGGGAGAAGGCTCG CTGCTTAGAAGAGTCAGTTGATACTATTCCATGAATTATACAAGCCTGAG TTAACAAAGCCATGACTAAAAACTAAATTATACCGATTTGCAATGAAACA CATTATACAGGTTGAGTAGCCAAAATGCATTATCGGCCGGGTGCAGTGGC TCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGAATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCATCTC TACAAAATACAAAAATTAGCTGGGTGTCATGGCAGGCACCTGTAATCCCA GCTGCTTGGGAGGCTGAGGCATGAGAATCACTTGAACCCGGAAGGTGAAG GTTGCAGTGAGCCAAGAATGGGCCACTGCACTCCAGCTTGGGCAACAGAG CCAGACCCTGTCTCAAAAAGAAAAAAATGCCTAATCTAAAATGCACTTTC CAAAACGGTCAGTGCAAGAAATGTTCCAGATTTTTAATTTTTCAGATTTG GGGATATTTGCATTATACTTACTGGTAGAGTATCGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTCTGGCTCTGTTGC CTGGGCTGGAGTGCAATGGTGCGATCTTGACTCACTGCAACCTTCACCTC CTGGGTTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCACATGCCACCACATCAAGCTAATTTTTGTATTTTTATAGAGACAGG GTTTCACCGTGTTGCCCAGCTGGTGTCAAACTTCTGAGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp2 NA20129.hp1 HG01884.hp1 HG02257.hp2 NA20129.hp1	a0001 a0020 a0062 a0001 a0020 a0062	a0001c0013 a0020c0075 a0062c0186 a0001c0013 a0020c0075 a0062c0186	a0001c0013t0001 a0020c0075t0001 a0062c0186t0001 a0001c0013t0001 a0020c0075t0001 a0062c0186t0001	a0001c0013t0001g0138 a0020c0075t0001g0137 a0062c0186t0001g0049 a0001c0013t0001g0138 a0020c0075t0001g0137 a0062c0186t0001g0049	3	276	0.0109	-990	c.-51 others(11): Show c.-5168_-4179del		CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding					4011		chr19	TogoVar
LOC128092252_chr15_50643802_50691717	50654207	AGGCCAAG others(983): Show AGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGTCTGG CCAACATAGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGG CGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGA GAATTGCTTGAACCCGGGAGGCAGAGGGTGCAGTGAGCTGAGATTGCAGC ACTGCACTCCAGCCTGGGCAACAGAACAAGACACCATCTCAAAAAAATAA AAAAATACTAGACATATAAAAAAGATGAAGGAAAAAAAGCAGTCACCAGA AACAGACCCTAAATGATGCAAATGTTGGAATCAGTAGACAAAGACTCTAA TGCAGGTATTATAAATATGCTGAAGGGCATACAGGAATAGACAGTCATAA TGAGAGTGCACATGGTGCATCTCAGCAGTAAAATGGAAACTATAACAAAG AATCAAATAGCAATCCTAGCACTGAAAAATGTAATGTATGAAATGAAAAT TCACTGGATGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGATTACAGGCGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGG CTAATAAGGTGAAACCCCATCTCTACTAAAAAAAACCACAAAAAACTACC CGGGTGTGGCAGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCATGAACCCAGGATGCAGAGCTTGCAGTGAGCTGAGACTG CGCCACTGCACTCCAGCGTGGGCGACAGAGTGACACTCCGTCTCAAAAAA AAAAAAAAAAAGAAAAGAAAATTCACTGGATGGACAAAACAGCAAAATGG AGAATGTAGAAATAAGAGTGAACCTGAAGACATCAATAGAAATTATTCAA TACATCAGATAAAGAAAAAAAAGTTAATTAAAAAAAAAAAACTTCCTGGC CAAATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA20752.hp1 HG01516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	386	0.0052	-990	c.306 others(17): Show c.306+2584_306+3573del		LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	3/3						chr15	TogoVar
MCF2L_chr13_112964214_113104742	113067784	AGCTGGAG others(983): Show AGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTG CACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCG CAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTAC TCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTGCCAGCTACTTGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCAACGCTGGAGTGCCAGCTACTCGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGG AGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTG GGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGA GCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTCGGAG GCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAG TCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGG TGGTGCACAGCTGGAGTGCCAGCTACTTGGAGGCAGAGGTCGCAGTGAGC CGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGC AGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0033 a0001c0005t0033	a0001c0005t0033g0106 a0001c0005t0033g0106	1	114	0.0088	-990	c.881 others(17): Show c.881+1623_882-1277del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCBP3_chr21_45638725_45947450	45924160	TGAACACT others(983): Show TGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACGGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGTGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGTGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18963.hp2 NA18984.hp2 NA18957.hp1 NA18963.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064	3	231	0.0130	-990	c.718 others(17): Show c.718-5750_718-4761del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO2_chr18_10665247_11154569	10813259	GTGAGCCA others(983): Show GTGAGCCACCGCGCCCGGGCCATTTTAAACATTTTTAAGAACACAGTTCA GTGGTATTAATTACACTCATATTGTTGCGAAACCAATCGCCAGAACTTTT TCATCTTGCAAAACTAAAATTCTGTACACATTAAATAAAAACTCCCTATT CCCTTCTCCTCCCAGGCCCTGGAAACCACCATTGTACTTTCTAAATCTGT GAATTTGACTACCTGGTACCTTATTTAGTGGAACCATCCAATATTTGTCT TTTGTGACTGTCTTATTTTACGTAGCATGATGGCCTCAAGGTTCATTCAT GTTGTAGCATGTGTCAGAATTTCCTTCCACTTTAAGGCTGAATACATAAA TATATACATATGTATGTCCCATTTGTTAATTCATCTGTTGATGGCACTTC CACCTTCTGACTATTGTTCATAACGCTGTTATGAACATGGGTGAACAAAT ATCTCTTCAAGACCCTGTTTTCAATTCTTTTCTATATATAGCCATAAGTG AAATTGTTGGATCGTATGACCATTCTATTTTTAATAGAGAAACTGCTCCG GTTGTTTGAGGAACTGGTATACTGTTTTCCATCAGTGCTGCCCGATTTTA CATTCCCACCAGCAGTGCACAGTCTTCCAGTTTCCCTATAGCCTTGCCAA GTCTTGTTATTTTATGCTTTTCAGAGTAGTCATCCTAATAGGTGTGAGAT GGGACACCATATATTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTGGC CCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCTCGGCAAGCTCCACCTC CCTGGTTCATGCCATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGA CAGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGA TCTGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0001 a0002c0074t0001	a0002c0074t0001g0031 a0002c0074t0001g0031	1	158	0.0063	-990	c.918 others(17): Show c.918-6975_918-5986del		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	7/55						chr18	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000503	AATCAGCC others(983): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCA GCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTG CAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAG CCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGC AGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGC CTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCA GGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCC TCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAG GTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATCAGCCT CAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGG TCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0026 a0001c0007t0026	a0001c0007t0026g0162 a0001c0007t0026g0162	1	192	0.0052	-990	c.120 others(19): Show c.1200+2163_1200+3152del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPAIN_chr17_5415182_5437877	5435768	GCCTGTAA others(983): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACACGATGAAACTCCATCTCTACTAA AAAATACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGTACG CGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAA CCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAG CCTGGAGACACAGCAAGACTCTGTCAGAAAAAAAAAAAAAAAAAAAAGAG TACATGAAGTGCCGCCCTCCACTTGTGCTAACTAGCTGCTCTGCCAGGAA GCCACCTTTCCATGGCAACAGAGGCAGTCTGAGGTTGACAAAATCTGTCT AATTCCAACTGTGCTGACTAAGCTGAGCTCCTGGGCACAGAAATTGAATG ACGTTCATCAGAGCATTATTTTTAATGGCCCCCAAATAGCTATGAAAACC TTGCGCAAATGGTGTTTAGGTGAGATTACAGAAGACACAATTGACCTGTG TAGGGCAAAAACACACTATGCAACAGGCAAGAGAATCAGGACCCTACTTC ACACCATATTCAAAATGAATCACAGACCTAAACTAAGAGCTAAAACTAGA AAACTTTGAAAAAATTAAGGCATACATCTTCACAACCTTGGGTTAGGCAG TGGTTTCTTAGACGTGACACTAAAAAAGCACAAGTTGCACTTGGTGAATT AGAAGCAAAGTAAAAAATAAATAAAAAAGCACAAGCGACCAAAAAAATAG GTAAACTGAACTTCCTCAAAATTAAAAACTTTTGTGTCAGAGGACATTAC CAAGAAAGTGAAAAGGAAACCCACAAGATGGGAAACAGTACTTACAAATC ATTAATTTGATAAGATAGTTGTACCCAGAAAAACTTAACTTTTACAACCC AACAATTAAAAAGGTAAATAGGGTGGGCAGGGTGGCTCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02486.hp1 others(6): Show HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02970.hp1 HG03540.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0005g0054 a0002c0002t0001g0092	9	398	0.0226	-990	c.31 others(11): Show c.3198_*4187del		RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding					2892		chr17	TogoVar
TRIP13_chr5_887884_923120	897348	TTCAGTGT others(983): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTG GCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGG ATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGT GTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC TTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGC AGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGAT TTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	333	0.0030	-990	c.388 others(16): Show c.388+683_388+1672del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPM7_chr15_50552158_50691797	50654207	AGGCCAAG others(983): Show AGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGTCTGG CCAACATAGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGG CGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGA GAATTGCTTGAACCCGGGAGGCAGAGGGTGCAGTGAGCTGAGATTGCAGC ACTGCACTCCAGCCTGGGCAACAGAACAAGACACCATCTCAAAAAAATAA AAAAATACTAGACATATAAAAAAGATGAAGGAAAAAAAGCAGTCACCAGA AACAGACCCTAAATGATGCAAATGTTGGAATCAGTAGACAAAGACTCTAA TGCAGGTATTATAAATATGCTGAAGGGCATACAGGAATAGACAGTCATAA TGAGAGTGCACATGGTGCATCTCAGCAGTAAAATGGAAACTATAACAAAG AATCAAATAGCAATCCTAGCACTGAAAAATGTAATGTATGAAATGAAAAT TCACTGGATGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGATTACAGGCGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGG CTAATAAGGTGAAACCCCATCTCTACTAAAAAAAACCACAAAAAACTACC CGGGTGTGGCAGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCATGAACCCAGGATGCAGAGCTTGCAGTGAGCTGAGACTG CGCCACTGCACTCCAGCGTGGGCGACAGAGTGACACTCCGTCTCAAAAAA AAAAAAAAAAAGAAAAGAAAATTCACTGGATGGACAAAACAGCAAAATGG AGAATGTAGAAATAAGAGTGAACCTGAAGACATCAATAGAAATTATTCAA TACATCAGATAAAGAAAAAAAAGTTAATTAAAAAAAAAAAACTTCCTGGC CAAATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA20752.hp2 HG01516.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0050 a0001c0002t0022g0051 a0001c0002t0022g0050 a0001c0002t0022g0051	2	350	0.0057	-990	c.122 others(17): Show c.122+2584_122+3573del		TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	3/38						chr15	TogoVar
COQ8A_chr1_226935294_226992544	226955535	TCTCCCTG others(982): Show TCTCCCTGGTTCACACTCTCCCTGGCTCCCACTCCCTGGGTTCACACTCT CCCTGGCTGTCACTCCCTGGTTCACACTCTCCCTGGCTCCCATTCTCCCT GGCTCCCACTCTCCCTGGTTCCCATTCTCCCTGGTTCCCGCTCTCCCTGG CTCCCACTCTCCCTGGCTCCCACTCCCTGGTTCACACTCTCCCTGGCTCC CACTCTCCCTGGTTCACACTCTCCCTGGCTCCCACTCCCTGGTTCACACT CTCCCTGGCTCCCACTCTCCCTGGTTCACACTCTCCCTGGCTCCCACTCC CTGGTTCACACTCTCCCTGGCTCTCACTCTCCCTGGTTCACACTCTCCCT GGCTGCCACTCTCCCTGGCTGCCACTCCCTGGTTCACACTCTCCCTGGTT CCCATTCTCCCTGGTTCCCGCTCTCCCTGATTCACACTCTCCCTGGCTGC CACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACACT CTCCCTGGCTCTCACTCTCCCTGGCTCCCACTCTCCCTGGTTCCCACTCT CCCTGGTTCACACTCTCCCTGGCTCTCACTCTCCCTGGTTCACACTCTCC CTGGTTCCCATTCTCCCTGGTTCACACTCTCCCTGGTTCCCGCTCTCCCT GATTCACACTCTCCCTGGCTGCCACTCTCCCTGGCTGCCACTCCCTGGTT CACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACACTCTCCCTGGCTTC CACTCTCCCTGGTTCACACTCTCCCTGGCTCTCACTCTCCCTGGTTCACA CTCTCCCTGGCTCCCACTCTCCCTGGTTCCCACTCTCCGTGGTTCACACT CTCCCTGGTTCCCATTCTCCCTGGTTCCCGCTCTCCCTGATTCACACTCT CCCTGGCTGCCACTCTCCCTGGCTGCCACTCCCTGGTTCACACTCTCCCT GGCTCCCACTCTCCCTGGTTCACACTCTCCCTGGCTCCCA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp2 HG02280.hp1 others(15): Show HG01106.hp1 HG02109.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0012 others(1): Show a0002c0004 a0002c0007 a0002c0012 a0002c0013	a0002c0004t0003 a0002c0007t0003 a0002c0012t0003 others(1): Show a0002c0004t0003 a0002c0007t0003 a0002c0012t0003 a0002c0013t0003	a0002c0004t0003g0021 a0002c0004t0003g0022 a0002c0004t0003g0093 others(12): Show a0002c0004t0003g0021 a0002c0004t0003g0022 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0004t0003g0095 a0002c0004t0003g0096 a0002c0004t0003g0186 a0002c0004t0003g0187 a0002c0004t0003g0188 a0002c0007t0003g0044 a0002c0007t0003g0311 a0002c0007t0003g0312 a0002c0007t0003g0313 a0002c0012t0003g0141 a0002c0013t0003g0097	18	410	0.0439	-989	c.-9- others(15): Show c.-9-5808_-9-4820del		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
GOLGA3_chr12_132763914_132833869	132817067	ACTCTAAC others(982): Show ACTCTAACGTGAACCCGCCCTCCACACCTCTACGCTCTAACGTGAACTCA CCCTCCACACCTCCACACTCTAATGTGAACCCGCCCTCCACTCCTCCACG CTCTAAGGTGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCGC CCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCTCCACACCTCCACAC TCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCC CTCCACACCTCCACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACACT CTAAGGTGAACCCGCCCTCCACACCTCCACACTCTAACGTGAACCCGCCC TCCACTCCTCCACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACGCTC TAAGGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCACT CCACACCTCCACGCTCTAAGGTGAACCCACCCTCCACACCTCCACACTCT AACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACTCACCCTC CACACCTCCACGCTCTAAGGTGAACCCCCCCCCCACACCTCCACACTCTA AGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCCCTCC ACACCTCCACGCTCTAAGGTGAACCCACCCTCCACACCTCCACGCTCTAA GGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCACTCCA CACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAG GTGAACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCCCCAC ACCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGG TGAACCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACTC CTCCACGCTCTAAGGTGAACCCACCCTCCACACCTGTACG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0301 a0002c0002t0051g0301	1	306	0.0033	-989	c.134 others(16): Show c.134-1244_134-256del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
POM121_chr7_72920095_72953299	72951207	GCAATCCT others(982): Show GCAATCCTGTAGGGAAAAGAAAGAGAGATCAGACTGTTACTGTGTCTGTG TAGAAAGGGAAGACATAAGAAATTCCATTTTGACCTGTACCTTGAACAAT TGGTTGGCTGAGATGCTGTTAATTTGTGACTTTGCCCCAAATTTGAGCTC ACAAAAACATGTGTTGTATGGAATCAAGGTTTAAAGGATCTAGGGCTGTG CAGGACATGCCTTGTTAATAAAACGTTTACAAGCAGTATGCTTGGTAAAA GTCTTCGCCGTTCTCTAGTCTCAATAAACCAGAGGCACAATGTACTGTGA AAAGCTGCAGGGACCTCTGCCCTGGAAAGCCAGGTATTGTCCAAGGTTCT CCCCATGTGATAGTCTGAAATATAGCCTCATGGGATGAGAGGCTGTGCCC CAGCCCGACACCCGTAAAGGGTCTGTGCTGAGGTGGATTAGTAAAAGAGG AAAGCCTTGCAGTTGAGATAGAGGAAGGGCACTGTCTCCTGCCTGCCCCT GGGAACTGAATGTCTCGGTATAAAACCCGATTGTACATTTGTTCAATTCT GAGATAGGAGAAAAACCACCCTATGGCGGGAGGCGAGACATGTTGGCAGC AATGCTGCCTTGTTATGCTTTACTCCACAGATGTTTGGGCGGAGGGAAAC ATAAATCTGGCCTACGTGCACATCCAGGCATAGTACCTCCCTTTGAACTT AATTATGACACAGATTCCTTTGCTCACAGGTTTTTTTGCTGACCTTCTCC TTATTATCACCCTGCTCTCCTACCGCATTCCTTGTGCTGAGATAATGAAA ATAATAATCAATAAAAACTGAGGGAACTCGGAGACCAGTGCTGGTGCAGG TCCTTGGTATGCTAAGTGCCAGTCTCCTGGGCCCACTGTTGTTTCTCTAT ACTTTGTCTCTGTGTCTTATTTCTTTTCTCAGTCTCTTGTCCCACCTGAT GAGATATCCCACAGATGTGGAGGGGCAGGCCACCCCTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02630.hp1 HG01106.hp1 HG02630.hp1	a0013 a0039 a0013 a0039	a0013c0048 a0039c0100 a0013c0048 a0039c0100	a0013c0048t0053 a0039c0100t0033 a0013c0048t0053 a0039c0100t0033	a0013c0048t0053g0076 a0039c0100t0033g0043 a0013c0048t0053g0076 a0039c0100t0033g0043	2	422	0.0047	-989	c.49 others(11): Show c.4974_*5962del		POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding					2909		chr7	TogoVar
SLIT2_chr4_20246905_20625561	20405915	AAACATTA others(982): Show AAACATTACCTTGGCTGTTCTTGGTCTTCTTACAATTAGTAAGAAGTTGG GCACTGTGACTGGATCTGGACAATAGTATATGATGTGTGTCACTTTTGAG CTAATTCAGCCCTTGTATGATACTACAGTCTCTTTCCCTGCCTTAAGGAA ATTATTATCTTCTCAATAATGGTCCCAGGTCAATAGATTTACACAGGTAA ACAACTGAATCTTCCTCTTTATCTCAGACCTACAAAAAAATTAATTACAT GTAGATTGAATGTTGAAAGATGAAAGACCAAACAATAATATTTCTTGCAG ATATCATAGAATAGTTTCCAAATCCTTGGTTAGGCATTATTGTTTTTTAT ATAAGACATGTGAAACATCAATTATAAATGAAAAGATTGAGAAACTCAAC TTTATTAAAGTTTAAAAACTTATCAACGATACTATTTCCTGAATAGGAGT GGGAGAAGGGATTTGTAATATATGTAACCACTGAAGGATTTACATACAGA TTCTCTATCTTTAAAACCTCTTACAAATCAATAAGATAAAAGCAAATAAC CCAATAAAAACGAAAGAGAGGAACCAAATTATTGAATAGGCACTCAAAAT GAGAATATACAAATGGCTCATAAATACATTAAAAAGTGCTCAACATTATT ATCCATCAGGAAAATAATTAAAACCATAGTGACATACCATCACTTATCTA TTACTATGACTATTAAAACTTTCTTAAAAAATAAACTGACAGCACCAGTG TTAGAAAAGACAATACAACTACAAGGACTCTCAAACATTGCCACTGGGGG CATAAATCAGTACAATTAGTATGGAAAACTGTTTTGTAGTATATACTAAA ATTAAACTTATTCATTCCCTATGGTCTAGCAATGCCACTTCTAGGTATAC AGTGAACAAAAGCATCAATATTTGTATATCAAACAATGTACTGGATGTTC ATTACGGTGGTATTGTTTAAAGCCCAGATGGAAACAATGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(39): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00738.hp2 HG01074.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp2 HG03710.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18952.hp2 NA18964.hp1 NA18969.hp2 NA18982.hp1 NA18990.hp2 NA19005.hp2 NA19010.hp2 NA19060.hp2 NA19063.hp1 NA19078.hp2 NA19082.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0020 a0001c0022 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0032 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0014 a0001c0002t0034 a0001c0002t0044 a0001c0002t0045 a0001c0002t0048 a0001c0003t0028 a0001c0008t0001 a0001c0008t0032 a0001c0012t0077 a0001c0020t0012 a0001c0022t0012 a0002c0009t0001 a0002c0009t0004	a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0128 others(39): Show a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0128 a0001c0001t0002g0074 a0001c0001t0002g0117 a0001c0001t0004g0206 a0001c0001t0005g0097 a0001c0001t0006g0082 a0001c0001t0013g0172 a0001c0001t0015g0002 a0001c0001t0015g0096 a0001c0001t0020g0095 a0001c0001t0032g0015 a0001c0001t0047g0068 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0002t0002g0055 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0112 a0001c0002t0002g0132 a0001c0002t0004g0205 a0001c0002t0004g0208 a0001c0002t0008g0186 a0001c0002t0008g0191 a0001c0002t0008g0192 a0001c0002t0014g0161 a0001c0002t0034g0190 a0001c0002t0044g0003 a0001c0002t0045g0006 a0001c0002t0048g0110 a0001c0003t0028g0013 a0001c0008t0001g0138 a0001c0008t0032g0021 a0001c0012t0077g0202 a0001c0020t0012g0203 a0001c0022t0012g0198 a0002c0009t0001g0111 a0002c0009t0004g0200	42	228	0.1842	-989	c.396 others(19): Show c.396-61833_396-60845del		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
TEX29_chr13_111315642_111349248	111340358	GTGTTTAG others(982): Show GTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCATCTGTGCTTGTTGATGAAAA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATAATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAG CACCTGTGCTTGTTGATGAAAATCATAACCCCTGTTTAGTGAGCACCTGT GCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGT TTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02698.hp2 HG03654.hp2 others(3): Show HG01255.hp2 HG02698.hp2 HG03654.hp2 NA19009.hp1 NA19068.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0010 a0001c0002t0002 a0001c0001t0007 a0001c0001t0010 a0001c0002t0002	a0001c0001t0007g0024 a0001c0001t0007g0103 a0001c0001t0010g0284 others(2): Show a0001c0001t0007g0024 a0001c0001t0007g0103 a0001c0001t0010g0284 a0001c0002t0002g0223 a0001c0002t0002g0235	6	405	0.0148	-989	c.239 others(16): Show c.239+501_240-1335del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
C7orf50_chr7_992006_1143247	1001620	GGGAGTCC others(981): Show GGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTG AGTGGAGTCCTGCGGGTGGGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTT AGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCGGG TGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTAGGGAGTCCTGTGGG TGTGGAGCCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGG TGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGCGGG TGGGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGG TGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTG GGTGGGGAGTCCTGTGGGTTAGTGGAGTCCTGCGGGTGGGGAGTCCTGTG GGTGGGGAGTCCTCTGGGTGAGTGGAGTCCTGTGGGTGGGAAGTCCTGTG GGTGAGTGGAGCCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGTCC TGCAGGTGGGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCC TGCGGGTGAGTGGAGTCCTGCGGGTGAGTGGAGTCCTGTGGGTGAGTGGA GCCCTGTGGGTGAGTGGAATCCTGTGGGTGGGGAGTCCTGTGGGTAGGGA ATCCTGTGGGTGTGGAGCCCTGTGGGTGGGGAGTCCTGTGGGTGAATGGA GTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCCGGTGGGGA GTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTG GAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGG GAGTCCTGTGGGTGAGTGGAGCCCTGTGGGTGAGTGGAGTCCTGCGGGTG AGTGGAGCCCTGCGGGTGAGTGGAGCCCTGTGGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	324	0.0031	-988	c.324 others(17): Show c.324-2057_324-1070del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4						chr7	TogoVar
ERICH1_chr8_659200_736224	675212	TGAGGACA others(981): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	172	0.0058	-988	c.305 others(17): Show c.305-2153_305-1166del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
LAIR1_chr19_54346384_54369931	54349223	TGGATGGA others(981): Show TGGATGGATGGAGGGAGGACACAGATCCTGAGGGTGGATGGAGGGAGGAC ACAGATCCTGAGGATGGATGAAGGGAGGACACAGATCCTGAGGGTGGATG GAGGGAGGACACAGATCCTGAGGATGCGTGGAGGGAGGACACAGATCCTG AGGATGGATGGAGGGAGGACGTAGATCCTGAGGGTGGATGGAGGGAGGAC GCAGATCCTGAGGGTGGATGGATGGAGGACGCAGATCCTGAGGATGGATG GAGGGAGGATGCAGATCCTGAGGGTGGACGGATGGAGGGAGGACACAGAT CCTGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGA GGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTG GATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGAT CCTGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGCATGGAGGGA GGACACAGATCCTGAGGGTGGATGGAGGGAGGACACAGATCCTGAGGATG GATGGAGGGAGGACACAGATCCTGAGGATGCATGGAGGGAGCACACAGAC CCTGAGGGTGGATGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGA GGACACAGATCCTGAGGATGCATGGAGGGAGGACACCACGCCCGGCTAAT TTTTGTCTTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTC TCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGTCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCTGGCCGGCTTTCTTAGTCATGTTTA ATTTAACGAAAATTTTATAATGATCTGAAATGTAAATGGTTTTTAAAGAA TTCAAATTAGGATTCATCAAAAATAGGACTGTCTTTATTGTTGAAAAACA TTGTATTTCTTTAATAATGAACAACTTATTAAGTTATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0069 a0003c0004t0004g0069	1	460	0.0022	-988	c.50 others(11): Show c.5057_*6044del		LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding					2160		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168560494	GCCCTGAG others(981): Show GCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0033 a0001c0013t0002g0033	1	173	0.0058	-988	c.637 others(19): Show c.637+11300_637+12287del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(981): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	158	0.0063	-988	c.637 others(19): Show c.637+11421_637+12408del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560832	ATTCTTGG others(981): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	120	0.0083	-988	c.637 others(19): Show c.637+11680_637+12667del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106698	GCGTGCTG others(981): Show GCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCTTGATAATAATGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGA GTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAA TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTC GGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0071 a0018c0035t0001g0071	1	176	0.0057	-988	c.325 others(17): Show c.325+8313_325+9300del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM95_chr17_7350156_7362219	7361231	AAAAAAAA others(981): Show AAAAAAAATTAGCTGGGTGTGATGGCGCATGCCTGTGGTCCCAGCTACTC AGGAGGCTGAGGTGAGAAGATCGCTTGAACCCAGGAGGTCAAAGCTGAAG TGAGCTGACATCACACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACC CTGTCTTAAAAAAAAAAAAAAGAAAGAAACACAAACTCCTCCAACCTCTC ATGCCACATGCTCAGGAAGAGCTTACTAGAGGAATTTATATCACAAGGGT TCAGAGAAGGGGCTGGGGTTGTCAAGGACATACCCTGGAGTCTGCCATGT GCCAAACACTGTGGAAACAAAGATAAAAAACCACTAGGTGGGTAGGCACG GTGGCTCATGCCTGTAATCCCAGACTTTGGGAGGCCAGGGTGGTTGGATC ACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCACA TCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTA ATCCTAGCTACTCTGGAGGCTGAGGCAGTAGAATCGATTGAACCCAGGAG TAGGAGGTTGCAGTGAGCCAAGATTATGCCACTGCACTCCAGCCTGGGTG ATGGAGCGAGACTCGGTCTCGAAAACAAACAAACAAACAAACAAAAAACC TGTTAGCTGGTGGTTTAATAGGGCAGGGCATGGTTTGGAGGGAAGATGGA TTGGTAAAGAAACACCACCACCTTGATGTGACACAGCTGAGGGATGTCTA GAGAAGGGACACCCCCAGGGGCTCAGAGAAGGATTCTCAGAAGAGGTTGT GCCTGAGCCAAAGGAGAAAGACATCCCAGGTATAAGGACAAGCCTGGGCA ATGACAGATGAAAAAGCAGGAGGTGTTTGGGCAGCTACAGGTGATTCAGT ATGGCCGTGGGGGGTGCGTTGGGTGGGCAGTGCTGAGAGATAAAGCCGCA GGGACATGTGGGGGCCAGATTCCAGGAAGTATTACACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	430	0.0023	-988	c.46 others(11): Show c.4600_*5587del		TMEM95	ENSG00000182896.13	transcript	ENST00000576060.6	protein_coding					4013		chr17	TogoVar
TPO_chr2_1408463_1548673	1531894	TGTGTGCA others(981): Show TGTGTGCAACCTCCTCAAATCACCCCCACTGTGTGCAACCTCCTCAAATC CCCCCACTGCGAGCAACCTCCTCAAATCTCCCCACTGTGTGCAACCTCCC AAAATCTCCCCTATTGTGTGCAACGTCCTCAAATCCCCTCACTGTGTGCA ACCTCCCCAAATACCCCCCACTGTGTGCACCTTCCTCAAGTCCCCCACTG TGTGCAACCCCCACAAATCCCCCCACTGTGCGCAACCTCCTCTAATCCCC TCACTGTGTGCAACCTACACAAATGCCCCCCACAGTGCGCAACCTCCTCA AATCCCCCACCACTGTGAGCAACCTCCTCAAATCCCCCCACTGCCTGCAA CCTCCTCAAATCCCCCCACTGTGTGCAACCTCCTCAAGTCCCCCACTGTG TGCAACCCCCACAAAACTCCCACTGTGCGCAACCTCCTCTAATCCCCTGT GTGCAACCTCCACAAATACCCCCCACAGTGCGCAACCTCCTCAAATCCCC CACCACTGTGAGCAACCTCCCCAAATCCCCCCACTGTGAGTAACCTCCTG CAATTGCCCCGCACTGTGCAACCTCCTCAAATCCCCCCCACAGTGCAAAA CCTCCTCAAAACCCCCGCCACTCTGAGCAACCTCCTCAAATACCCCACTG TCAGCAACCTCCTCAAATCCCCCCAACTGTGTGCGACCTCCCCAAATCCC CCCCACAGTGTGCAATCTCCACAAATCCCCCCCCACTCTGTACAACCTCC CCAAACCCCCCCAACTGTGTACAACTTCCTCACAACCACCCACTCTGTGC AACCTCCCCAAATCCCCCACTGTGAGCAACCTTCCCAAATCCCCCCACTG TGTGCAATCTCCCCATATCCCCCCACTGTGAGCAACCTCCCCAAATCCCC CACACTATGTGCAACCTCCTCAAATCCCCCCACTCTGCACAATCTCCCCA AATCCCCCCCACTCTGCGCAACCTCCTCAAATACCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	126	0.0079	-988	c.261 others(19): Show c.2619-8697_2619-7710del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNKL_chr16_1358205_1419704	1372998	ACACAGGG others(981): Show ACACAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGGAGCAC ACCACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCATGG AACACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAG ACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCAC ACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG AGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAG ACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0059 a0001c0001t0017 a0001c0001t0059	a0001c0001t0017g0182 a0001c0001t0059g0296 a0001c0001t0017g0182 a0001c0001t0059g0296	2	318	0.0063	-988	c.126 others(19): Show c.1265-2375_1265-1388del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14						chr16	TogoVar
ABR_chr17_998519_1184981	1117318	TCCTCCCC others(980): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCT CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCG GAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCC CTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAG CGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTT CCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTG AGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC TCCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTCCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTAT CCCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCC AGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01496.hp1 others(4): Show HG01106.hp1 HG01361.hp2 HG01496.hp1 HG02683.hp2 HG02965.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0003g0061 others(4): Show a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0003g0061 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0011g0166	7	335	0.0209	-987	c.246 others(17): Show c.246+6878_246+7864del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ADARB2_chr10_1172313_1742525	1235621	CCTCCCGG others(980): Show CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTG GTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGA GCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTT AACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACAC ACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAG TGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAA AGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTG GGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGAC CCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCC TGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCT CTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTC GGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACT CCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCT CTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAG CTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGA ACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 NA18945.hp1 HG02717.hp2 HG03041.hp1 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0032 a0001c0003t0039 a0002c0002t0007 a0001c0003t0032 a0001c0003t0039 a0002c0002t0007	a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0007g0002 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0007g0002	3	103	0.0291	-987	c.136 others(19): Show c.1362-2763_1362-1777del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235644	GCCTCCCG others(980): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGT GATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCA CCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGC TGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCC AGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCC TGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAG GCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAAC GGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCC AGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTG TGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTG AACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACC CAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCT GTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTC TGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCG GTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02970.hp1 HG02027.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0064 a0002c0002t0046 a0002c0002t0064	a0002c0002t0046g0056 a0002c0002t0064g0100 a0002c0002t0046g0056 a0002c0002t0064g0100	2	94	0.0213	-987	c.136 others(19): Show c.1362-2786_1362-1800del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235668	CCCTCCCG others(980): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTC CTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAA AGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCT TTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTA CACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCA CAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATT AAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAG GTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCAT GACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTT GCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCA CCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTC TTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAG CCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTG AAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAA CGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0062 a0001c0001t0035 a0002c0002t0062	a0001c0001t0035g0079 a0002c0002t0062g0093 a0001c0001t0035g0079 a0002c0002t0062g0093	2	82	0.0244	-987	c.136 others(19): Show c.1362-2810_1362-1824del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
CCDC127_chr5_191868_223153	212081	ATGTGAGC others(980): Show ATGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACA GCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACG CTGATGCTCGACATCACACACTGCAGCCACGATGAGACAGCACCACACAC CCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGA CATCGAATACTGCAGCCACGATGAGACAGCACCACACACCCATCACGATG GGGCAGACGGGACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACT GCAGCCATGACGAGACAGCACCACACACCCATCATGATGGGGCAGACTGG ACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACG ATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATG TGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGACAG CACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGC TGATGCTTGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACC CATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGAC ATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGG GGCAGACGGGACAGCAATGTGAGCATGCTGAGATGCTCGACATTGCACAC TGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGG GACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCAC GACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGT GTGAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGATGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp1 HG00609.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0069 a0001c0001t0050 a0001c0001t0069	a0001c0001t0050g0128 a0001c0001t0069g0142 a0001c0001t0050g0128 a0001c0001t0069g0142	2	281	0.0071	-987	c.121 others(17): Show c.121+3661_121+4647del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CCDC127_chr5_191868_223153	212302	TGAGACAG others(980): Show TGAGACAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGATGCTCGACATCGCACACTGCAGCCATGACGAGACAGCAC CACACACCCATCATGATGGGGCAGACTGGACAGCAATGTGAGCACGCTGA GATGCTCGACATTGCACACTGCAGCCACGATGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGA CATTGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATG GGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTTGACATCGCACACT GCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGG ACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGAT GAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTG AGCATGCTGAGATGCTCGACATTGCACACTGCAGCCACGATGAGACAGCA CCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTG AGATGCTCGACATTGCACACTGCAGCCACGACGAGACAGCACCACACACC CATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTTGAC ATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGG GGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTG CAGCCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGACGGGA CAGCAGTGTGAGCACACTGATGCTCGACATCGAATACTGCAGCCACGACG AGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGA GCACACTGATGCTCGACATCGCACACTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(33): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp2 HG01346.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03669.hp2 NA18906.hp2 NA18965.hp1 NA18970.hp2 NA18983.hp2 NA18985.hp2 NA19012.hp2 NA19030.hp1 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0015 a0001c0002t0042 others(27): Show a0001c0002t0014 a0001c0002t0015 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0202 a0001c0002t0203 a0001c0002t0204 a0001c0002t0205 a0001c0002t0207 a0001c0002t0209 a0001c0002t0211 a0001c0002t0212 a0001c0002t0214 a0001c0002t0215 a0001c0002t0216 a0001c0002t0217 a0001c0002t0218 a0001c0002t0221 a0001c0002t0222 a0001c0002t0223 a0001c0002t0224 a0001c0002t0225 a0001c0002t0226 a0001c0002t0227 a0001c0002t0228 a0001c0002t0229 a0001c0002t0230	a0001c0002t0014g0043 a0001c0002t0015g0047 a0001c0002t0015g0272 others(29): Show a0001c0002t0014g0043 a0001c0002t0015g0047 a0001c0002t0015g0272 a0001c0002t0042g0044 a0001c0002t0043g0241 a0001c0002t0044g0046 a0001c0002t0045g0262 a0001c0002t0045g0265 a0001c0002t0046g0045 a0001c0002t0202g0242 a0001c0002t0203g0243 a0001c0002t0204g0244 a0001c0002t0205g0245 a0001c0002t0207g0260 a0001c0002t0209g0247 a0001c0002t0211g0248 a0001c0002t0212g0249 a0001c0002t0214g0251 a0001c0002t0215g0252 a0001c0002t0216g0254 a0001c0002t0217g0267 a0001c0002t0218g0266 a0001c0002t0221g0238 a0001c0002t0222g0258 a0001c0002t0223g0261 a0001c0002t0224g0263 a0001c0002t0225g0264 a0001c0002t0226g0239 a0001c0002t0227g0268 a0001c0002t0228g0273 a0001c0002t0229g0270 a0001c0002t0230g0271	36	297	0.1212	-987	c.121 others(17): Show c.121+3440_121+4426del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(979): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCT TTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCG AGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTC CCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGG ATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGA CGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTG TAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTG GCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGC CATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGA TTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCC CCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCC TTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0061 a0002c0002t0042g0061	1	100	0.0100	-986	c.136 others(19): Show c.1362-2778_1362-1793del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656250	CGGGAGGT others(979): Show CGGGAGGTGAGAGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCA GCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCACCCCTACTGTGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCA	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	350	0.0029	-986	c.268 others(18): Show c.268+9749_268+10734del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
P2RX5_chr17_3668227_3701155	3685648	GCGTCCCC others(979): Show GCGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACAC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAG GAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACA GGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	307	0.0033	-986	c.981 others(17): Show c.981+1378_981+2363del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
TERB1_chr16_66749640_66806584	66759762	TACTCCAG others(979): Show TACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGGAAAGAAAGAAAAGAAAAGAAAAAGAGCATCTAGAGCGGGC GCAGTGGCTCACGCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCTG ATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCC ATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGCCA GGCGGAGGTTGCAGTGAGCTGAGATCACGACTGCACTCCAACCTGGGTGA CAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAA AAGAAAAAGAGCATCTAGGTTGGGTGCAATGGCTCATGCCTGTAACCCCA GCACTTTGGGAGGCTGAGGCGGGCTGATCACAAGGTCAGGAGTTCGAGAC CAGCCTGGCCAATATGGCGAAACCCCATCTCTACTAAAAATACAAAAATT AGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATCACTTGAACCCGCCAGGCGGAGGCTGCAGTGAGCTGAGA TCACGACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCATCTCAAAAA AAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAGCATCTAGGTTGG GTGCAATGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGG CTGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAAC CCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGTGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCG CCAGGCGGAGGTTGCAGTGAGCTGAGATCACGACTGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	350	0.0029	-986	c.178 others(18): Show c.1781-1458_1781-473del		TERB1	ENSG00000249961.10	transcript	ENST00000433154.6	protein_coding	16/18						chr16	TogoVar
TERB1_chr16_66749640_66806584	66759817	AAAGGAAA others(979): Show AAAGGAAAGAAAGAAAAGAAAAGAAAAAGAGCATCTAGAGCGGGCGCAGT GGCTCACGCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCTGATCAC AAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTC TACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGCCAGGCGG AGGTTGCAGTGAGCTGAGATCACGACTGCACTCCAACCTGGGTGACAGAG CGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAA AAAGAGCATCTAGGTTGGGTGCAATGGCTCATGCCTGTAACCCCAGCACT TTGGGAGGCTGAGGCGGGCTGATCACAAGGTCAGGAGTTCGAGACCAGCC TGGCCAATATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCA GGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATCACTTGAACCCGCCAGGCGGAGGCTGCAGTGAGCTGAGATCACG ACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAA AAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAGCATCTAGGTTGGGTGCA ATGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCTGAT CACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGCCAGG CGGAGGTTGCAGTGAGCTGAGATCACGACTGCACTCCAACCTGGGTGACA GAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGA	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02602.hp2 others(5): Show HG01109.hp2 HG02145.hp2 HG02602.hp2 HG02630.hp2 HG03225.hp2 HG03654.hp2 HG03927.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0046 a0001c0003t0001g0129 a0001c0003t0001g0130 others(5): Show a0001c0003t0001g0046 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0006t0001g0188	8	348	0.0230	-986	c.178 others(18): Show c.1781-1513_1781-528del		TERB1	ENSG00000249961.10	transcript	ENST00000433154.6	protein_coding	16/18						chr16	TogoVar
TMEM95_chr17_7350156_7362219	7361233	AAAAAATT others(979): Show AAAAAATTAGCTGGGTGTGATGGCGCATGCCTGTGGTCCCAGCTACTCAG GAGGCTGAGGTGAGAAGATCGCTTGAACCCAGGAGGTCAAAGCTGAAGTG AGCTGACATCACACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACCCT GTCTTAAAAAAAAAAAAAAGAAAGAAACACAAACTCCTCCAACCTCTCAT GCCACATGCTCAGGAAGAGCTTACTAGAGGAATTTATATCACAAGGGTTC AGAGAAGGGGCTGGGGTTGTCAAGGACATACCCTGGAGTCTGCCATGTGC CAAACACTGTGGAAACAAAGATAAAAAACCACTAGGTGGGTAGGCACGGT GGCTCATGCCTGTAATCCCAGACTTTGGGAGGCCAGGGTGGTTGGATCAC CTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCACATC TCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTAAT CCTAGCTACTCTGGAGGCTGAGGCAGTAGAATCGATTGAACCCAGGAGTA GGAGGTTGCAGTGAGCCAAGATTATGCCACTGCACTCCAGCCTGGGTGAT GGAGCGAGACTCGGTCTCGAAAACAAACAAACAAACAAACAAAAAACCTG TTAGCTGGTGGTTTAATAGGGCAGGGCATGGTTTGGAGGGAAGATGGATT GGTAAAGAAACACCACCACCTTGATGTGACACAGCTGAGGGATGTCTAGA GAAGGGACACCCCCAGGGGCTCAGAGAAGGATTCTCAGAAGAGGTTGTGC CTGAGCCAAAGGAGAAAGACATCCCAGGTATAAGGACAAGCCTGGGCAAT GACAGATGAAAAAGCAGGAGGTGTTTGGGCAGCTACAGGTGATTCAGTAT GGCCGTGGGGGGTGCGTTGGGTGGGCAGTGCTGAGAGATAAAGCCGCAGG GACATGTGGGGGCCAGATTCCAGGAAGTATTACACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	-986	c.46 others(11): Show c.4602_*5587del		TMEM95	ENSG00000182896.13	transcript	ENST00000576060.6	protein_coding					4015		chr17	TogoVar
ADARB2_chr10_1172313_1742525	1238371	TCCCTGCA others(978): Show TCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0031 a0001c0001t0029g0031	1	89	0.0112	-985	c.136 others(19): Show c.1361+2775_1361+3759del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
CCT4_chr2_61863085_61893656	61892586	GGGGAGGC others(978): Show GGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTGGAGGTTGCG GTGAGCCGAGATCGTGCCATTTCACTCCAGCCTGGGCAACAAGAGGGAAA CTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAGAAGAGAGGGCTGTATG TATCTTATCTCTCTTAGGTTTTACTCCAATTCAAAGACAGTGTTTGTTGT TATTTTGTATTTTTCTCTGCATTAGTTTATTATCGAGACCACCATTAAGC CCCGTTTTCCTAAGCCTTACTGTTTGCATCGTTCTTTTTTTTTCCCCCCT GAAACGGAGTCTCGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCGCAATCT CAGCTCACTGCAACCTCTGCTCCACGGGTTCAAGTGATTCTCCTGCCTCA ACCTCCCGAGTAGCTGGGACTATAGGCATGCGCCACCGTGGTCGGCTAAT TTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTT CGAACTCCCGACCACAGGTGATCTGCCCACCTTGGCCTTTCAAAGTACTG GGATTACAGGTGTGAGCCACCATGCCTGGCCTCATTCTATGTTTTTAAGT TTAGCTTGCAATAGTAACATGAAGCAGAGGCCTTGTTTCATTAAGTATAT TTTGATTTTCCTAATTTTCCTAGAAAGGTTTCTAGTTAACATTTTTGTTA CTTTCTAACCTTCCCAGTTAAAATATTTGTCTGAAAATGGGAAGAGGTTG ATTGTTGGCAATAGTAAAAAATAAAAATTTAAAAGTTTAAGAAAAACAAA TAAAAATGAAAATGGGAAGAGGAAAAGCCAAAGGAGGGTGCTGGCAAACT TAGAAGTTTTGTGATGTGTGAGTAAACAGCCAGGTTTTCTATCGAAAAAC AGGAATGAACTAAACTTTCATTATTGTAGTACTAACAAGAGTTACAGGCC GGGCGCCTTGGCTCACGCCTGTAATCCCAGCACTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG02886.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0232 a0001c0002t0002g0233	2	412	0.0049	-985	c.-50 others(11): Show c.-5064_-4080del		CCT4	ENSG00000115484.15	transcript	ENST00000394440.8	protein_coding					3931		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686683	GCCCCCAG others(978): Show GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG AGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCC CGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGA ACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACA GGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCC CCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	346	0.0029	-985	c.981 others(16): Show c.981+344_981+1328del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
TBC1D13_chr9_128782253_128815430	128794507	CCTCTGTC others(978): Show CCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAA CATCCGCTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAG CTGGGATTACAGGCATGTGCCACAACGCCTGGCTGATTTTTGTATTTTTA GGAGAGACGGGGTTTCACCAGTTGGCCAGGCTGGTCACGAACTCCTGACC TCAAGTGATCCACCCGCTTCAGCCTCGCAAAGTGCTAGCATTACAGGCAT GAGACACCATGCCTGGCCAGGTTCTGTTTTACATGGGTAGTGATCCTTTG GTGCTTCTAGAAGCGTGTTTGCAATGTGCTAAGTATAAGAAGTCTGAAAA ATGTGCGTGTACTGCAATACATATATTTTAAAAACTTGATCACATTCTAG ACACCATCTCCCAACTTGTTTTCCCTCTCACTCTGTCTTGGACATCTTTC CAGTTCAGCTGTATAATATTCTGTTGTACAGTGTGAAACTTATGGAACCA AATCTCTTTTGCTACTACAAACCACCCTGTGTTTGTGCATGTTAGATAAT TTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGACTGGA GTACAGTGGCTTGATCTTAGCTCACTGAAGCCTTGAACTCCCAGGCTCAA GTGATCCTCCTGCCCCACCTCCTGAGTAGCCAGGACTGTAGGCACATGCC ACCACACCCAGCTAATTTTTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGT TGCCCAGGCTGGAGTGCACTGGCGCAATCTTGGCTCACTGCAACCTCCGG GTTCCAGTGATTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGG CACATGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGG TTTCACCGTGTTAGCTAGGATGGTCACCATCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGGGAAGGAGTCTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp1 HG03490.hp1 others(3): Show HG00140.hp1 HG02602.hp1 HG03490.hp1 HG03492.hp2 HG03927.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0121 a0001c0001t0136 others(1): Show a0001c0001t0035 a0001c0001t0121 a0001c0001t0136 a0001c0001t0154	a0001c0001t0035g0018 a0001c0001t0121g0115 a0001c0001t0136g0158 others(1): Show a0001c0001t0035g0018 a0001c0001t0121g0115 a0001c0001t0136g0158 a0001c0001t0154g0159	6	396	0.0152	-985	c.383 others(17): Show c.383+1957_384-1540del		TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
TERB1_chr16_66749640_66806584	66759818	AAGGAAAG others(978): Show AAGGAAAGAAAGAAAAGAAAAGAAAAAGAGCATCTAGAGCGGGCGCAGTG GCTCACGCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCTGATCACA AGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCT ACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGCCAGGCGGA GGTTGCAGTGAGCTGAGATCACGACTGCACTCCAACCTGGGTGACAGAGC GAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAA AAGAGCATCTAGGTTGGGTGCAATGGCTCATGCCTGTAACCCCAGCACTT TGGGAGGCTGAGGCGGGCTGATCACAAGGTCAGGAGTTCGAGACCAGCCT GGCCAATATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAG GCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATCACTTGAACCCGCCAGGCGGAGGCTGCAGTGAGCTGAGATCACGA CTGCACTCCAACCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAA AAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAGCATCTAGGTTGGGTGCAA TGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCTGATC ACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATC TCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGCCAGGC GGAGGTTGCAGTGAGCTGAGATCACGACTGCACTCCAACCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGA	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA20905.hp1 HG04228.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0133 a0001c0003t0001g0134	2	350	0.0057	-985	c.178 others(18): Show c.1781-1513_1781-529del		TERB1	ENSG00000249961.10	transcript	ENST00000433154.6	protein_coding	16/18						chr16	TogoVar
ATP10A_chr15_25673712_25868327	25686249	GCCTCCAG others(977): Show GCCTCCAGAAAAACAATTAAGAACATGGAGAACCAGCCTGAGCAACAAAG TGAGACCCTGCCTCTACAAAATTAAAAAAAAAAAAAAATTAGATGTGCGT GGTGACACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCTGGAAGA TCACTTGAGCCCAGGAAGTTGAGGCTGCAGTAAGCTATGATGGTGCCACT GCACTCCAGCCTGGGAGACAATAGTGACACCCTGTCTCAAAAAATAAAAA TAAAATGAACATGAACAACCACTGACAGTTTAGAGCTAGCTAACTGGAGA GTTTTTATACAGAACTGGAAAAAGAATACACCTTTTATTTTATTTTATTT TCAGAAGAGTATAGGATAATCTTGACACTGGAGTTCTGGTGTTTAGCCAG GTAGATTTATGGGACTACCTTGGAAGATCACTTACCCTAAGAGTTTATTT TGTCTCTTTGTTTGTACATTCAGCCAAAAGCAGCAGCAGCCTAGCAACTC CTCAGTAAAATATCTAGAAATCTCTTACAAATGGGGCAGAACTCTGAGAC GGCCATGTGGTCCATCCTGCAGGGCTATGGAGGAGCCCATCTGCCAAAGA AGCAGTGAAGAAGGAACGAAGAGTCCAACGTGAAGATCCACATGAAATGA CCATGCAGAACCCTCAGAGAGACAGAAATGTCTGCAGCCAATCTGCCCTG GGTGTGGCTTTACAGCAGGGTCACTTTAGCTACAGAATGAGCTCATCCGA GAGGGGTGTGTCTGCTCTGCAAGCCTGGGAGGTGGGAGAGGGTGGGAAGG CCCGAAGGGCACCCCCTTCCTGCTGGGTCTGAGCCTCCCTGACCTAGGGG CTTGCCGCCTGTCACCTGTCCTGGTGTGGGTGTGTCCCAACAGAGGCCAT TCAGTATGGGAATCAGAGTGAGGCTAAGTTCCCTTATTCTGATCCCAGAC CACAAAGCACACTTGTGCTTATCATTGGATTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(173): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(40): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0023 a0024 a0025 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0043 a0044 a0045 a0048 a0049 a0052 a0053	a0001c0001 a0001c0019 a0002c0002 others(62): Show a0001c0001 a0001c0019 a0002c0002 a0002c0022 a0002c0067 a0002c0068 a0002c0071 a0002c0074 a0002c0076 a0003c0003 a0003c0013 a0003c0064 a0003c0078 a0004c0004 a0004c0058 a0005c0005 a0005c0054 a0006c0007 a0006c0053 a0006c0060 a0006c0066 a0007c0015 a0007c0016 a0007c0070 a0007c0083 a0008c0006 a0009c0011 a0009c0045 a0009c0055 a0010c0017 a0010c0025 a0011c0008 a0013c0010 a0014c0020 a0015c0046 a0016c0024 a0017c0023 a0018c0063 a0018c0077 a0020c0018 a0021c0069 a0023c0056 a0024c0065 a0025c0073 a0026c0072 a0029c0032 a0030c0043 a0031c0057 a0032c0035 a0033c0037 a0034c0036 a0035c0039 a0036c0048 a0037c0034 a0038c0062 a0039c0081 a0040c0038 a0041c0059 a0043c0052 a0044c0051 a0045c0049 a0048c0080 a0049c0050 a0052c0033 a0053c0044	a0001c0001t0001 a0001c0019t0001 a0001c0019t0003 others(72): Show a0001c0001t0001 a0001c0019t0001 a0001c0019t0003 a0002c0002t0001 a0002c0002t0002 a0002c0022t0001 a0002c0067t0001 a0002c0068t0001 a0002c0071t0001 a0002c0074t0001 a0002c0076t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0013t0002 a0003c0064t0001 a0003c0078t0001 a0004c0004t0001 a0004c0004t0002 a0004c0058t0001 a0005c0005t0001 a0005c0005t0002 a0005c0054t0001 a0006c0007t0001 a0006c0007t0002 a0006c0053t0001 a0006c0060t0001 a0006c0066t0001 a0007c0015t0001 a0007c0016t0001 a0007c0016t0003 a0007c0070t0001 a0007c0083t0001 a0008c0006t0001 a0008c0006t0004 a0009c0011t0001 a0009c0045t0001 a0009c0055t0001 a0010c0017t0001 a0010c0017t0002 a0010c0025t0001 a0011c0008t0001 a0013c0010t0001 a0014c0020t0001 a0015c0046t0001 a0016c0024t0001 a0017c0023t0001 a0018c0063t0001 a0018c0077t0001 a0020c0018t0001 a0021c0069t0001 a0023c0056t0001 a0024c0065t0001 a0025c0073t0002 a0026c0072t0001 a0029c0032t0001 a0030c0043t0001 a0031c0057t0001 a0032c0035t0005 a0033c0037t0001 a0034c0036t0001 a0035c0039t0001 a0036c0048t0001 a0037c0034t0001 a0038c0062t0001 a0039c0081t0001 a0040c0038t0001 a0041c0059t0001 a0043c0052t0001 a0044c0051t0001 a0045c0049t0001 a0048c0080t0002 a0049c0050t0001 a0052c0033t0001 a0053c0044t0001	a0001c0001t0001g0200 a0001c0001t0001g0245 a0001c0019t0001g0031 others(173): Show a0001c0001t0001g0200 a0001c0001t0001g0245 a0001c0019t0001g0031 a0001c0019t0003g0003 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0046 a0002c0002t0001g0059 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0133 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0169 a0002c0002t0001g0177 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0209 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0244 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0271 a0002c0002t0002g0282 a0002c0002t0002g0285 a0002c0002t0002g0288 a0002c0002t0002g0292 a0002c0002t0002g0298 a0002c0022t0001g0066 a0002c0022t0001g0067 a0002c0067t0001g0053 a0002c0068t0001g0091 a0002c0071t0001g0132 a0002c0074t0001g0113 a0002c0076t0001g0027 a0003c0003t0001g0034 a0003c0003t0001g0078 a0003c0003t0001g0103 a0003c0003t0001g0166 a0003c0003t0002g0289 a0003c0003t0003g0001 a0003c0013t0002g0300 a0003c0064t0001g0241 a0003c0078t0001g0206 a0004c0004t0001g0068 a0004c0004t0001g0071 a0004c0004t0001g0083 a0004c0004t0001g0111 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0213 a0004c0004t0001g0221 a0004c0004t0001g0226 a0004c0004t0001g0269 a0004c0004t0002g0291 a0004c0004t0002g0293 a0004c0004t0002g0295 a0004c0058t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0081 a0005c0005t0001g0115 a0005c0005t0001g0142 a0005c0005t0001g0143 a0005c0005t0001g0156 a0005c0005t0001g0234 a0005c0005t0001g0237 a0005c0005t0001g0239 a0005c0005t0001g0240 a0005c0005t0001g0258 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0002g0286 a0005c0054t0001g0189 a0006c0007t0001g0037 a0006c0007t0001g0097 a0006c0007t0001g0130 a0006c0007t0001g0243 a0006c0007t0001g0249 a0006c0007t0001g0263 a0006c0007t0002g0294 a0006c0053t0001g0021 a0006c0060t0001g0164 a0006c0066t0001g0035 a0007c0015t0001g0026 a0007c0015t0001g0247 a0007c0016t0001g0215 a0007c0016t0001g0250 a0007c0016t0003g0002 a0007c0070t0001g0218 a0007c0083t0001g0279 a0008c0006t0001g0023 a0008c0006t0001g0045 a0008c0006t0001g0174 a0008c0006t0001g0180 a0008c0006t0001g0204 a0008c0006t0001g0242 a0008c0006t0004g0004 a0009c0011t0001g0101 a0009c0045t0001g0049 a0009c0055t0001g0106 a0010c0017t0001g0104 a0010c0017t0001g0273 a0010c0017t0002g0297 a0010c0025t0001g0005 a0011c0008t0001g0107 a0011c0008t0001g0119 a0011c0008t0001g0193 a0011c0008t0001g0197 a0013c0010t0001g0170 a0013c0010t0001g0178 a0013c0010t0001g0253 a0014c0020t0001g0131 a0014c0020t0001g0188 a0015c0046t0001g0055 a0016c0024t0001g0020 a0016c0024t0001g0207 a0017c0023t0001g0043 a0017c0023t0001g0232 a0018c0063t0001g0211 a0018c0077t0001g0181 a0020c0018t0001g0028 a0020c0018t0001g0065 a0021c0069t0001g0008 a0023c0056t0001g0016 a0024c0065t0001g0062 a0025c0073t0002g0281 a0026c0072t0001g0231 a0029c0032t0001g0036 a0030c0043t0001g0041 a0031c0057t0001g0013 a0032c0035t0005g0216 a0033c0037t0001g0212 a0034c0036t0001g0182 a0035c0039t0001g0176 a0036c0048t0001g0202 a0037c0034t0001g0044 a0038c0062t0001g0261 a0039c0081t0001g0278 a0040c0038t0001g0251 a0041c0059t0001g0275 a0043c0052t0001g0194 a0044c0051t0001g0024 a0045c0049t0001g0175 a0048c0080t0002g0296 a0049c0050t0001g0054 a0052c0033t0001g0195 a0053c0044t0001g0205	176	298	0.5906	-984	c.329 others(18): Show c.3291+470_3291+1453del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	16/20						chr15	TogoVar

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