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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1254932	CCCTCTCC others(115): Show CCCTCTCCTGCCCGGGTGCTGTGTGTGTGTCCTCTCATCCTGTCCGGGTG CTGTGTGTGTGTCCTCTCATCCTGCTTGGGCGCTGTGTGTGTGTCTTCTC CTGCCCAGCCGCTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	-122	c.74- others(15): Show c.74-3912_74-3791del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123851180	CGGGACCT others(115): Show CGGGACCTAGGATGTGTCAGCTCCATGTGGCTCTTCCAGATGGGACCTAG GATGTGTTAGCTCCGTGTGGCTCTTCCAGACGGGACCTAGGATGTGTTAG TTCCATGTGGGTCTTCCAGACTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18906.hp2 HG02451.hp2 NA18906.hp2	a0005 a0041 a0005 a0041	a0005c0065 a0041c0086 a0005c0065 a0041c0086	a0005c0065t0001 a0041c0086t0001 a0005c0065t0001 a0041c0086t0001	a0005c0065t0001g0042 a0041c0086t0001g0162 a0005c0065t0001g0042 a0041c0086t0001g0162	2	170	0.0118	-122	c.629 others(17): Show c.6291+121_6291+242del	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	35/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH9_chr17_11593470_11974748	11694655	TCGCTTTC others(115): Show TCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG01884.hp1 others(9): Show HG00280.hp2 HG01261.hp2 HG01884.hp1 HG01928.hp1 HG02451.hp2 HG02559.hp2 HG02683.hp1 HG06807.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19084.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0008 a0012 a0028 a0038 a0044 a0072	a0001c0002 a0001c0107 a0004c0121 others(9): Show a0001c0002 a0001c0107 a0004c0121 a0005c0004 a0006c0046 a0007c0016 a0008c0096 a0012c0057 a0028c0139 a0038c0126 a0044c0029 a0072c0090	a0001c0002t0001 a0001c0107t0001 a0004c0121t0001 others(9): Show a0001c0002t0001 a0001c0107t0001 a0004c0121t0001 a0005c0004t0001 a0006c0046t0001 a0007c0016t0001 a0008c0096t0001 a0012c0057t0001 a0028c0139t0001 a0038c0126t0001 a0044c0029t0001 a0072c0090t0001	a0001c0002t0001g0129 a0001c0107t0001g0071 a0004c0121t0001g0114 others(9): Show a0001c0002t0001g0129 a0001c0107t0001g0071 a0004c0121t0001g0114 a0005c0004t0001g0091 a0006c0046t0001g0037 a0007c0016t0001g0173 a0008c0096t0001g0135 a0012c0057t0001g0062 a0028c0139t0001g0106 a0038c0126t0001g0067 a0044c0029t0001g0029 a0072c0090t0001g0070	12	178	0.0674	-122	c.487 others(17): Show c.4872+209_4872+330del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DOCK8_chr9_209865_470255	320981	CCAGAGAT others(115): Show CCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGAT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18968.hp1 NA18970.hp2 others(3): Show NA18961.hp2 NA18968.hp1 NA18970.hp2 NA18997.hp1 NA19010.hp2 NA19091.hp2	a0002 a0002	a0002c0006 a0002c0112 a0002c0006 a0002c0112	a0002c0006t0001 a0002c0112t0001 a0002c0006t0001 a0002c0112t0001	a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 others(3): Show a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0112t0001g0224	6	256	0.0234	-122	c.827 others(17): Show c.827+3914_827+4035del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	321347	TCAGAGAT others(115): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG02486.hp1 others(13): Show HG01099.hp1 HG01433.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03669.hp1 NA18522.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0008 a0011 a0015 a0022 a0037 a0039 a0042 a0053 a0061	a0001c0033 a0001c0046 a0002c0077 others(13): Show a0001c0033 a0001c0046 a0002c0077 a0002c0099 a0002c0111 a0004c0039 a0008c0083 a0011c0149 a0015c0034 a0022c0085 a0022c0086 a0037c0038 a0039c0089 a0042c0037 a0053c0082 a0061c0131	a0001c0033t0004 a0001c0046t0006 a0002c0077t0003 others(13): Show a0001c0033t0004 a0001c0046t0006 a0002c0077t0003 a0002c0099t0004 a0002c0111t0010 a0004c0039t0004 a0008c0083t0001 a0011c0149t0017 a0015c0034t0004 a0022c0085t0006 a0022c0086t0006 a0037c0038t0001 a0039c0089t0001 a0042c0037t0003 a0053c0082t0001 a0061c0131t0002	a0001c0033t0004g0125 a0001c0046t0006g0063 a0002c0077t0003g0018 others(13): Show a0001c0033t0004g0125 a0001c0046t0006g0063 a0002c0077t0003g0018 a0002c0099t0004g0031 a0002c0111t0010g0248 a0004c0039t0004g0056 a0008c0083t0001g0034 a0011c0149t0017g0070 a0015c0034t0004g0128 a0022c0085t0006g0029 a0022c0086t0006g0030 a0037c0038t0001g0026 a0039c0089t0001g0120 a0042c0037t0003g0236 a0053c0082t0001g0228 a0061c0131t0002g0069	16	256	0.0625	-122	c.828 others(17): Show c.828-4263_828-4142del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380390	GCTTGGAG others(115): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02080.hp1 HG02257.hp1 others(6): Show HG00741.hp1 HG02080.hp1 HG02257.hp1 HG03486.hp2 HG03834.hp2 NA18612.hp1 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0015 a0036 a0057	a0001c0002 a0001c0064 a0002c0114 others(5): Show a0001c0002 a0001c0064 a0002c0114 a0003c0001 a0004c0044 a0015c0065 a0036c0140 a0057c0130	a0001c0002t0001 a0001c0064t0001 a0002c0114t0001 others(6): Show a0001c0002t0001 a0001c0064t0001 a0002c0114t0001 a0003c0001t0001 a0003c0001t0016 a0004c0044t0001 a0015c0065t0001 a0036c0140t0003 a0057c0130t0001	a0001c0002t0001g0221 a0001c0064t0001g0032 a0002c0114t0001g0015 others(6): Show a0001c0002t0001g0221 a0001c0064t0001g0032 a0002c0114t0001g0015 a0003c0001t0001g0158 a0003c0001t0016g0157 a0004c0044t0001g0072 a0015c0065t0001g0165 a0036c0140t0003g0177 a0057c0130t0001g0169	9	256	0.0352	-122	c.260 others(17): Show c.2605+577_2605+698del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(115): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp1 HG03579.hp2 others(2): Show HG01081.hp2 HG02109.hp1 HG03579.hp2 HG03942.hp1 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0082 a0001c0001t0001g0139 a0002c0002t0001g0240 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0139 a0002c0002t0001g0240 a0002c0002t0001g0241 a0003c0003t0001g0023	5	340	0.0147	-122	c.641 others(15): Show c.641-568_641-447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566542	ACTCTGTC others(115): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	340	0.0029	-122	c.641 others(17): Show c.641-1510_641-1389del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPY19L2_chr12_63553913_63673493	63556361	TATACATA others(115): Show TATACATATATACACGTGTATACATATGTATATACATATATACACGTGTA TACATATGTATATACATATATACACGTGTATATATGTATACATGTATATA CATACATATATACACGTGTATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0156 a0003c0004t0003g0156	1	362	0.0028	-122	c.40 others(11): Show c.4029_*4150del	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2551		chr12	TogoVar
ELL2_chr5_95880098_95966851	95927402	CACACACG others(115): Show CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	314	0.0032	-122	c.196 others(17): Show c.196-7979_196-7858del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERO1B_chr1_236210101_236286958	236245422	ATACGTAT others(115): Show ATACGTATATATATACACACGTATATATATACGTATATATATACACACGT ATATATATACGTATATATATACACGTATATATATATGTGTGTATGTATGT GTGTGTATATATATGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01358.hp2 HG01928.hp1 others(5): Show HG00639.hp1 HG01358.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG02145.hp1 HG02630.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0002g0014 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0002g0014 a0001c0001t0002g0054 a0001c0001t0002g0139 a0001c0001t0009g0013 a0001c0001t0022g0027 a0001c0001t0022g0055	8	396	0.0202	-122	c.432 others(17): Show c.432-2049_432-1928del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
EXOC2_chr6_480154_698139	601850	CCACACAC others(115): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 NA19043.hp1 HG02486.hp2 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0013 a0001c0011t0008 a0001c0008t0013 a0001c0011t0008	a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154	3	272	0.0110	-122	c.743 others(17): Show c.743-2747_743-2626del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601890	CCACACAC others(115): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0171 a0001c0007t0003g0171	1	272	0.0037	-122	c.743 others(17): Show c.743-2787_743-2666del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602090	CCACACAC others(115): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	272	0.0037	-122	c.743 others(17): Show c.743-2987_743-2866del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
F7_chr13_113100791_113125685	113111321	GCTCACGG others(115): Show GCTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCAC ACAGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTC ACACTCACAGGGCACACTTCACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02135.hp1 HG02630.hp1 others(3): Show HG00280.hp2 HG02135.hp1 HG02630.hp1 HG02723.hp2 HG03209.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0016 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0025 a0001c0003t0010 a0002c0002t0003	a0001c0001t0001g0188 a0001c0001t0016g0242 a0001c0001t0025g0165 others(2): Show a0001c0001t0001g0188 a0001c0001t0016g0242 a0001c0001t0025g0165 a0001c0003t0010g0050 a0002c0002t0003g0066	6	400	0.0150	-122	c.225 others(15): Show c.225+665_225+786del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM161A_chr2_61819848_61859060	61848818	ATATATAT others(115): Show ATATATATATCTATATATATTTATATATATATTTATATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG02572.hp1 HG03130.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0281 a0005c0007t0009g0282 a0005c0007t0009g0281 a0005c0007t0009g0282	2	400	0.0050	-122	c.183 others(17): Show c.183+4919_183+5040del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FMN1_chr15_32760544_33199714	32949940	CATATATA others(115): Show CATATATATATATATATATATATATACACACATATATATACACACACATA TATATACACATACACATATATATATACACATATATATATATATACACATA TATATATATATACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp2 HG02896.hp2 HG03540.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0162 a0005c0004t0003g0188 a0005c0004t0003g0162 a0005c0004t0003g0188	2	196	0.0102	-122	c.313 others(21): Show c.3138+14045_3138+14166del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388200	GGAAGGAA others(115): Show GGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAG GAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAAGAAG GAAGGAAAGGGAGGGAGGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0008 a0001c0006t0003g0008	1	92	0.0109	-122	c.574 others(19): Show c.574+59324_574+59445del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPAA1_chr8_144077634_144091216	144089583	TATATGTA others(115): Show TATATGTATATACATATATATATATATATATACATATATATATATATACA TATATATATATATACATATATATATATATATATATACATATATATATGTA TATACATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02280.hp1 HG02622.hp2 others(4): Show HG00099.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02976.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0002c0003t0002g0003 a0001c0002t0002g0002 a0001c0002t0002g0003 a0002c0003t0002g0003	7	338	0.0207	-122	c.34 others(11): Show c.3459_*3580del	GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding		3368		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143219692	GCCTGACT others(115): Show GCCTGACTCACTCATGGGACAAACCCTAACCACGCCTCCCTCCTGACTCA ACTCATGGGACAGACCCTAACCACGCCTCCCTCCTGACTCAACTCATCGG ACAAACCTTAACCACGCCTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0002 a0001c0003t0012g0002	1	106	0.0094	-122	c.41 others(11): Show c.4175_*4296del	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		2523		chr8	TogoVar
GPR25_chr1_200867981_200879178	200877851	CAGGCGTG others(115): Show CAGGCGTGAGCCACCATGCCTGGCCCCTATAAGCTTCTTTTAAAGGGCAG TTAACAAATAGCAACGAAGCTACCAAAGCACTGGAGCTCATAACAAGCTG CCTGTCCTTGGCCACCTCGCTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	434	0.0023	-122	c.37 others(11): Show c.3729_*3850del	GPR25	ENSG00000170128.5	transcript	ENST00000304244.5	protein_coding		3674		chr1	TogoVar
HACE1_chr6_104723094_104864919	104727497	ACATATGT others(115): Show ACATATGTATATGAATACACACACACGTATGTATATGAATACACACACAC GTATGTATATGAATACACACACACGTATGTATATGAATACACACACACGT ATGTATATGAATACACACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(77): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02165.hp1 HG02615.hp2 HG02738.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18957.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 others(77): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0001g0325 a0001c0001t0003g0140 a0001c0003t0001g0229 a0001c0004t0001g0143 a0001c0004t0001g0147 a0002c0005t0001g0166	80	346	0.2312	-122	c.20 others(11): Show c.2043_*2164del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		596		chr6	TogoVar
HCN1_chr5_45249948_45701380	45375395	TACATATT others(115): Show TACATATTATATATAAGATCATATTTTATGATACATATTATATATAAGAT CATATTTTATGATACATATGATATATAAGATCATATTTTATGATACATAT TATATATAAGATCATATTTTATG	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	226	0.0044	-122	c.123 others(21): Show c.1230+20975_1230+21096del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
IL3RA_chrX_1331785_1387689	1337810	CACAGCCA others(115): Show CACAGCCATGAAAAGGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTG GAGACAGCCCTCATACCCATCTATAGATGAATGGAGAAATATAATGTGGT CCAGCCACACAGTGGAATATTAT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	115	0.0087	-122	c.-39 others(16): Show c.-39+946_-39+1067del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INTS1_chr7_1465277_1509389	1496275	AGCACGGG others(115): Show AGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACC CACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCC CACTCCACACCCACGTGGGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp2 HG00621.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0205 a0001c0001t0001g0206	2	316	0.0063	-122	c.160 others(16): Show c.1603-133_1603-12del	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	11/47			chr7	TogoVar
ITFG1_chr16_47149391_47466063	47443361	CTAGAAAT others(115): Show CTAGAAATACCATTTGACCCAGACGTCCCATTACTGGGTATATACCCAAA GGATTATAAATCATGCTGCTATAAAGATACATGCACACGTATGTTTATTG CGACACTATTCACAATAGCAAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0103 a0001c0005t0001g0103	1	110	0.0091	-122	c.560 others(17): Show c.560+7913_560+8034del	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	5/17			chr16	TogoVar
ITIH2_chr10_7698316_7754520	7737660	CTATATTA others(115): Show CTATATTATATTCTATATTTTCTATATTATATTCTATATAATATTCTATA TTATATTCTATATAATATTCTATATTATATTCTATATAATATTCTATATT ATATTCTATATAATATTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	380	0.0026	-122	c.195 others(17): Show c.1958-954_1958-833del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178759902	ATATCTAT others(115): Show ATATCTATATATATATATATCCAAGAGGATATATCTATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03490.hp2 HG03492.hp2 others(4): Show HG02723.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp1 HG06807.hp1 NA18971.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0109 others(4): Show a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0109 a0001c0001t0004g0123 a0001c0001t0004g0162 a0001c0002t0001g0102 a0001c0002t0001g0198	7	232	0.0302	-122	c.-67 others(19): Show c.-67-47437_-67-47316del	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759906	CTATATAT others(115): Show CTATATATATATATATCCAAGAGGATATATCTATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATCTATA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG04184.hp2 NA19068.hp1 HG01070.hp1 HG04184.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0133 a0001c0001t0002g0151 a0001c0001t0004g0019 a0001c0001t0002g0133 a0001c0001t0002g0151 a0001c0001t0004g0019	3	232	0.0129	-122	c.-67 others(19): Show c.-67-47421_-67-47300del	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114379534	TTATATAT others(115): Show TTATATATTATAGAATATATTATATAACATATTATATATTATAGAATATA TTATATAACATATTATATATTTTAGAATATATTATATAACATATTATATA TTTGTAGAATATATTATATAACA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02145.hp2 HG02258.hp2 others(5): Show HG01978.hp2 HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0026 a0001c0001t0001g0091 a0001c0001t0001g0092 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0006t0001g0097 a0001c0006t0001g0098	8	250	0.0320	-122	c.121 others(21): Show c.1218+15542_1218+15663del	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIAA0232_chr4_6777727_6889164	6880195	CCCTCACC others(115): Show CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGG TCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACACAGGTCTGTAGTGTCG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03669.hp1 others(2): Show HG02965.hp2 HG02976.hp1 HG03669.hp1 HG03704.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0009 a0003c0004t0003 a0001c0001t0003 a0001c0001t0009 a0003c0004t0003	a0001c0001t0003g0062 a0001c0001t0003g0306 a0001c0001t0009g0110 others(2): Show a0001c0001t0003g0062 a0001c0001t0003g0306 a0001c0001t0009g0110 a0003c0004t0003g0005 a0003c0004t0003g0006	5	362	0.0138	-122	c.400 others(17): Show c.4009-546_4009-425del	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIF25_chr6_167992671_168050091	167997290	TCGGGGGA others(115): Show TCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0142 a0001c0001t0012g0142	1	375	0.0027	-122	c.-21 others(11): Show c.-2178_-2057del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		380		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245682399	GCTGACTG others(115): Show GCTGACTGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTA CTCATGTAAGACCTGACTGTATATGATCACAACCTAACTGAGCAGAACTC ACCCTCCACTACTCATGTAAGAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp2 HG02647.hp2 others(5): Show HG01496.hp2 HG02630.hp2 HG02647.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0012 a0001c0016 others(4): Show a0001c0001 a0001c0012 a0001c0016 a0001c0035 a0001c0052 a0001c0053 a0017c0033	a0001c0001t0029 a0001c0012t0082 a0001c0016t0044 others(5): Show a0001c0001t0029 a0001c0012t0082 a0001c0016t0044 a0001c0016t0045 a0001c0035t0084 a0001c0052t0047 a0001c0053t0046 a0017c0033t0031	a0001c0001t0029g0094 a0001c0012t0082g0130 a0001c0016t0044g0128 others(5): Show a0001c0001t0029g0094 a0001c0012t0082g0130 a0001c0016t0044g0128 a0001c0016t0045g0098 a0001c0035t0084g0088 a0001c0052t0047g0156 a0001c0053t0046g0091 a0017c0033t0031g0002	8	160	0.0500	-122	c.225 others(19): Show c.2259-1602_2259-1481del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMA2_chr6_128878138_129521566	129286724	TAATATAT others(115): Show TAATATATTATATAATATATAATAATATATAATATATTATATAATATATA ATAATATATAATATATTATATAATATATAATAATATATAATATATTATAT AATATATAATAATATATAATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0032 a0003c0018t0001g0032	1	88	0.0114	-122	c.253 others(19): Show c.2538-1122_2538-1001del	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64			chr6	TogoVar
LOC128462377_chr16_89312046_89423292	89398341	GACCTCAG others(115): Show GACCTCAGCACTCTAGGAGGCTGACATGAGGGACGCTGTGAAACAGATGA AGATTACCTGTGATCTCAGCACTCTGGGAGGCTGACAAGAGGGACACTGT GAAACAGCTGAAGATTACCTGTA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18964.hp2 NA19009.hp2 others(1): Show NA18950.hp2 NA18964.hp2 NA19009.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081	4	366	0.0109	-122	c.9+1 others(15): Show c.9+19821_9+19942del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LPCAT1_chr5_1456427_1528960	1458968	GAGCATGT others(115): Show GAGCATGTGTACATGTGTAAGCCTCAGCATGAGTGCATGTGAGCCTCAGC GTGAGTGCATGTGAGCGTGTGTACATGTGTAAGCCTCAGCATGAGTGCAT GTGAGCATGTGTGTACATGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0247 a0001c0001t0021g0247	1	386	0.0026	-122	c.45 others(11): Show c.4561_*4682del	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding		2458		chr5	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(115): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01099.hp1 others(13): Show HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01975.hp1 HG02451.hp2 HG02723.hp1 HG02896.hp1 NA18522.hp1 NA18940.hp1 NA18959.hp1 NA18965.hp1 NA18995.hp1 NA19006.hp1 NA19057.hp1 NA19058.hp1 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0004c0007t0007	a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 others(13): Show a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0002g0224 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0008g0147 a0001c0001t0010g0006 a0004c0007t0007g0217	16	238	0.0672	-122	c.179 others(19): Show c.1791+1315_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRCH2_chrX_115105616_115239096	115125452	TATATATA others(115): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02071.hp1 HG02165.hp1 HG01358.hp1 HG02071.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0191	3	238	0.0126	-122	c.179 others(19): Show c.1791+1269_1791+1390del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRRC24_chr8_144517388_144532033	144531654	ACAGGGCA others(115): Show ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	-122	c.-48 others(11): Show c.-4876_-4755del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4622		chr8	TogoVar
LRRC4C_chr11_40109209_41464652	41075014	CTTTTTTT others(115): Show CTTTTTTTTTTTTTTTTTTTTTTATTTTTAATGTTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG01261.hp2 others(19): Show HG01074.hp2 HG01261.hp1 HG01261.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 NA18989.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0045	22	48	0.4583	-122	c.-49 others(23): Show c.-495-141413_-495-141292del	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
MAGI2_chr7_78012055_79458667	79135946	AGAAAGAA others(115): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAG AAGGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	40	0.0250	-122	c.302 others(21): Show c.302-128862_302-128741del	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAPK15_chr8_143711349_143727458	143711571	TGGGCCAG others(115): Show TGGGCCAGCCTCCCTCCTTTCACCGCCCTCCCCACAGCCCCGAAGCCGGG CCAGCTTCCGTCCTCCCCACCACAGCTGGGCCAGCCTCCCTCGTTTCACC GCCTGCCCCACCGCCCCAAAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	397	0.0025	-122	c.-48 others(11): Show c.-4806_-4685del	MAPK15	ENSG00000181085.15	transcript	ENST00000338033.9	protein_coding		4777		chr8	TogoVar
MCF2L_chr13_112964214_113104742	112986121	TCGCCCCT others(115): Show TCGCCCCTTCACTGGCTGAATGCCATCTGTGTGTCTGCCTGGCATGACCT GCGGTCGGGGTCTGATCCTGCCTGTGAAGACACAGTCTCTGTGAGGATGG GGCCGCGGCCGGATGCCATGTGG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0016 a0001c0003t0025g0016	1	116	0.0086	-122	c.79+ others(17): Show c.79+16667_79+16788del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113012194	AGGCGGTG others(115): Show AGGCGGTGTGGACGGTGGACAGGCTGGGTGGATGGTGGACACTGCGATGA GGACGGTGGACACTGCGATGAGGACAGTGGACAGGTGGTGTAGACAGTGG ACACTGCAGTGTGGATGGTGGAC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	116	0.0086	-122	c.80- others(15): Show c.80-2568_80-2447del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29			chr13	TogoVar
MLPH_chr2_237482251_237560322	237522138	GCCTTCAA others(115): Show GCCTTCAAACACCTGCTACAACTATAGTGCTGGAGCGGAGCAGGGCTGAG ACTGGGGTTGGGCCTTCAAACACCTGCTACAACTATAGTGCTGGAGTGGA GCTGGGCTGAGACTGGGGTTGGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	286	0.0035	-122	c.675 others(17): Show c.675+2185_675+2306del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543570	AGTGAGTG others(115): Show AGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGAC AGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCA CGGTAGTGACTGGGGCGACAGTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0090 a0002c0008t0001g0090	1	286	0.0035	-122	c.153 others(18): Show c.1539+939_1539+1060del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSRA_chr8_10049292_10433891	10050382	ACTAAAAA others(115): Show ACTAAAAAACCTGCTGGAATTTTCATTGAGACAGTGTTGAATCTATAGGT CATTTTGGAGAGCACTGGCATTTAACAATACTGAGGCTTCGGATCCACCT ACATGGTATAGCTCCACATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	286	0.0035	-122	c.-41 others(11): Show c.-4134_-4013del	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding		3909		chr8	TogoVar
MUC5B_chr11_1218066_1267172	1255715	CCTCTCTG others(115): Show CCTCTCTGAGTGTCCTGTGCGGTGAGTGGGGGCGGCCCCGGGCCCCCCAG ACCCCTCGGCCTCTCTGAGTGTCCTGTGCGGTGAGTGGGGGCGGCCCCGG GCCCCCCAGACCCCTCGGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0081 a0081	a0081c0176 a0081c0176	a0081c0176t0001 a0081c0176t0001	a0081c0176t0001g0177 a0081c0176t0001g0177	1	350	0.0029	-122	c.160 others(19): Show c.16066+160_16066+281del	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	37/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYZAP_chr15_57586904_57690364	57687445	TGTGTGTA others(115): Show TGTGTGTACAATATACACATATATATAATATGTGTGTACAATATACACAT ATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACAT ATATATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA20752.hp1 HG02922.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0239 a0001c0001t0013g0267 a0001c0001t0001g0239 a0001c0001t0013g0267	2	352	0.0057	-122	c.29 others(11): Show c.2948_*3069del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2082		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688556	CTATATAT others(115): Show CTATATATACTCTATATGTGTACAATGTGCACATATATACTCTATATGTG TACAATGTGCACATATATACTCTATATGTGTACAATGTGCACATATATAC TCTATATGTGTACAATGTGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	352	0.0028	-122	c.40 others(11): Show c.4059_*4180del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3193		chr15	TogoVar

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