Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTBP1_chr19_792452_817312	796365	CACTGTAC others(147): Show CACTGTACAAGGTCCAGGCCTCAGTTTCCCCAGCTGTAGGTGAGAGGCCG CGGACTGTACAAGGTCCAGGCCTCAGTTTCCCCAGCTGTAGGCGGGCGGC CAAGGACTGCAAGGTCCAGGCCTCAGTTTCCCCACCTGTAGGCGGGCGGC CGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA19043.hp2 HG01891.hp1 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0024 a0001c0008t0008 a0001c0008t0024	a0001c0008t0008g0059 a0001c0008t0024g0060 a0001c0008t0008g0059 a0001c0008t0024g0060	2	388	0.0052	-154	c.-11 others(10): Show c.-1132_-979del	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		1086		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	492362	TTCCCGGG others(147): Show TTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAG GGCCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0061 a0001c0001t0017g0061	1	295	0.0034	-154	c.126 others(19): Show c.1265+3383_1265+3536del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD51C_chr17_58687602_58740611	58726454	ATATGTAT others(147): Show ATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGT GTATACGTATAGATGTATATACATATGTATATATGTGTATAAGTATAGAT GTATATACATATGTATATATGTGTATACATATAGATGTATATATGTATAT ACGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(48): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG03139.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA19007.hp2 NA19056.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0003c0005t0003 a0001c0001t0003 a0001c0001t0005 a0003c0005t0003	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0260 others(47): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0303 a0001c0001t0005g0018 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0268 a0001c0001t0005g0271 a0001c0001t0005g0275 a0001c0001t0005g0279 a0001c0001t0005g0282 a0001c0001t0005g0287 a0001c0001t0005g0291 a0001c0001t0005g0299 a0003c0005t0003g0257	51	330	0.1546	-154	c.965 others(17): Show c.965+2390_965+2543del	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBPMS_chr8_30379541_30577256	30404000	GCTTAGCA others(147): Show GCTTAGCAGATAATTTCTGGGGGTGTCATTCTTGAGTTTATCGGACACCG TGAAGTGTGTTGCTTTTTGTGTGTTAGGTGCTTGCTATATTTTTCTGGCT ATTAATGTCTGACGATGAGGCCAGTATTTTAGGTGTTGTGAGTGCAAGTA CAGAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02572.hp2 HG04204.hp2 others(2): Show HG00741.hp2 HG02572.hp2 HG04204.hp2 NA18992.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0188 a0001c0001t0005g0295 a0001c0001t0005g0296 others(2): Show a0001c0001t0001g0188 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0007g0189 a0001c0001t0008g0297	5	304	0.0165	-154	c.66+ others(17): Show c.66+18843_66+18996del	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8			chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373406	TGGGGATG others(147): Show TGGGGATGGCGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGC GGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGGG ACGGGGCGGGGGCTTGGGGGATGGTGTGGGTTCCAGGGGACGGGGCGGGG ATTTG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0037 a0001c0001t0005g0080 a0001c0001t0005g0033 a0001c0001t0005g0037 a0001c0001t0005g0080	4	426	0.0094	-154	c.61- others(15): Show c.61-2081_61-1928del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RSPO4_chr20_953452_1007311	985079	CTATCCAT others(147): Show CTATCCATCCACTCACCCACCCATCTATCCATCCATCCATCCACCCACCC ACTCATCTATCCATCCATCCATCCATCCATCCACCCACCCACCTACCCAT CTGCCCACCCATCTATCCATCCCCATCCATCCATCCATCCATCCACCCAC CCATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0147 a0001c0001t0017g0148 a0001c0001t0017g0147 a0001c0001t0017g0148	2	376	0.0053	-154	c.79+ others(17): Show c.79+16853_80-16942del	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	1/4			chr20	TogoVar
SART1_chr11_65956734_65985137	65971332	TGCTGAGG others(147): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0052 a0003c0008t0002g0052	1	384	0.0026	-154	c.157 others(19): Show c.1572+3574_1572+3727del	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288547	TCCCCCGT others(147): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp2 NA19067.hp2 NA18964.hp2 NA18998.hp2 NA19067.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0133 a0003c0004t0003g0135 a0003c0004t0003g0153 a0003c0004t0003g0133 a0003c0004t0003g0135 a0003c0004t0003g0153	3	290	0.0103	-154	c.166 others(17): Show c.1662+514_1662+667del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4193191	TTAATATA others(147): Show TTAATATATTTATATATTAATATATATATTGTATATTAATTGTATAAATA TACAATATATTGTAATTAATTGTATTAATTACATATAAAATACATATAAA ATTACATATAAAAATATTAATATATTTATACAATATATAAATATATTAAT TTATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01243.hp2 HG02976.hp1 HG03041.hp1 NA20129.hp1	a0001 a0021 a0034 a0001 a0021 a0034	a0001c0037 a0001c0071 a0021c0045 others(1): Show a0001c0037 a0001c0071 a0021c0045 a0034c0081	a0001c0037t0002 a0001c0071t0057 a0021c0045t0015 others(1): Show a0001c0037t0002 a0001c0071t0057 a0021c0045t0015 a0034c0081t0008	a0001c0037t0002g0077 a0001c0071t0057g0031 a0021c0045t0015g0046 others(1): Show a0001c0037t0002g0077 a0001c0071t0057g0031 a0021c0045t0015g0046 a0034c0081t0008g0075	4	116	0.0345	-154	c.509 others(21): Show c.5099-12671_5099-12518del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SIGIRR_chr11_400716_419999	400965	GCCCCGCT others(147): Show GCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCGGACC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGCCCCGC TCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	242	0.0041	-154	c.47 others(11): Show c.4777_*4930del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4750		chr11	TogoVar
SIGIRR_chr11_400716_419999	401008	CCGGACCC others(147): Show CCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCC GCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGC TCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02300.hp2 HG01175.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0167 a0001c0001t0001g0203	2	242	0.0083	-154	c.47 others(11): Show c.4734_*4887del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4707		chr11	TogoVar
SIGIRR_chr11_400716_419999	401412	CGGCCCCG others(147): Show CGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCG TTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC CCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0226 a0001c0006t0001g0226	1	242	0.0041	-154	c.43 others(11): Show c.4330_*4483del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4303		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071461	GAGCCCCC others(147): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0096 a0001c0001t0018g0096	1	118	0.0085	-154	c.224 others(19): Show c.2241+2018_2241+2171del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071503	GAGCCCCC others(147): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0104 a0001c0006t0021g0104	1	118	0.0085	-154	c.224 others(19): Show c.2241+1976_2241+2129del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071629	CCCCCAGC others(147): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0060 a0002c0024t0002g0060	1	118	0.0085	-154	c.224 others(19): Show c.2241+1850_2241+2003del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071751	GAGCCCCC others(147): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	118	0.0085	-154	c.224 others(19): Show c.2241+1728_2241+1881del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC17A4_chr6_25749742_25786199	25784680	AACCATAC others(147): Show AACCATACCTTACAGATATTGTTCAGGATGTCATAAAAAGCCATATGGCT TTTAGAGTCATACGGCTCTGAAACAGTTCAGGTTACATAAAAGTTAAAGC CTCAAGAGAGTGTAGATGAAGAAAGGCTTTGTAAGAATTTTAAAATATGT GTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	366	0.0027	-154	c.54 others(11): Show c.5493_*5646del	SLC17A4	ENSG00000146039.11	transcript	ENST00000377905.9	protein_coding		3482		chr6	TogoVar
SLC35G4_chr18_11604596_11615612	11613808	CGCCCATC others(147): Show CGCCCATCATCTGGGAGGTGAGGAGCACCTCTGCCCGGCCACCCATCGTC TGGTAGGTGAGGAGCGCCTCTGCCCGGCCGCCACCCCATCTAGGAAGTGA GGAGCGTCTCTGCCTGGCTGCCCATCGTCTGGGAGGTGAGGAGCGCCTCT GCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG03098.hp2 others(12): Show HG01891.hp2 HG02976.hp1 HG03098.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp2 NA18955.hp2 NA18997.hp2 NA18999.hp1 NA19058.hp1 NA19068.hp1 NA19090.hp2	a0005 a0005	a0005c0006 a0005c0015 a0005c0006 a0005c0015	a0005c0006t0000 a0005c0015t0000 a0005c0006t0000 a0005c0015t0000	a0005c0006t0000g0000 a0005c0015t0000g0000 a0005c0006t0000g0000 a0005c0015t0000g0000	15	444	0.0338	-154	c.31 others(11): Show c.3197_*3350del	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		3197		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919548	ACAGGAAC others(147): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGA GAGAC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	352	0.0028	-154	c.392 others(15): Show c.392-302_392-149del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919701	ACAGGAAC others(147): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00673.hp1 others(17): Show HG00140.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01496.hp2 HG02273.hp2 HG02965.hp1 HG03710.hp2 HG04199.hp2 NA18952.hp2 NA18980.hp2 NA19007.hp2 NA19070.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0175 a0001c0001t0014g0292 a0001c0001t0018g0099 a0001c0001t0030g0037 a0003c0005t0001g0137	20	352	0.0568	-154	c.392 others(15): Show c.392-455_392-302del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919739	ACAGGAAC others(147): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGA GAGAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02040.hp1 NA18954.hp2 others(2): Show HG01106.hp2 HG02040.hp1 NA18954.hp2 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0011 a0001c0001t0003g0300 a0001c0001t0003g0330 others(1): Show a0001c0001t0003g0011 a0001c0001t0003g0300 a0001c0001t0003g0330 a0001c0001t0007g0135	5	352	0.0142	-154	c.392 others(15): Show c.392-493_392-340del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919923	GGGAGAGA others(147): Show GGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGAGGGAG AGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCA GTGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18947.hp1 NA18951.hp2 HG00423.hp2 NA18947.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0121 a0001c0001t0004g0004 a0001c0001t0004g0121	3	352	0.0085	-154	c.392 others(15): Show c.392-677_392-524del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920464	ACAGGAAC others(147): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGAC	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0147 a0001c0001t0006g0147	1	352	0.0028	-154	c.392 others(17): Show c.392-1218_392-1065del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920870	GTCAGTGA others(147): Show GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02040.hp1 NA18954.hp2 others(2): Show HG01106.hp2 HG02040.hp1 NA18954.hp2 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0011 a0001c0001t0003g0300 a0001c0001t0003g0330 others(1): Show a0001c0001t0003g0011 a0001c0001t0003g0300 a0001c0001t0003g0330 a0001c0001t0007g0135	5	352	0.0142	-154	c.392 others(17): Show c.392-1624_392-1471del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921443	GTCAGTGA others(147): Show GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	352	0.0028	-154	c.392 others(17): Show c.392-2197_392-2044del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	481762	AGCCTCCT others(147): Show AGCCTCCTCTCCCCTCCTGGCCCAGCCCCAAGGAACACACGGTGCCCTCC GCCACCCCCCAAGCCCCAGACCAACGCAGCCTCCTCTCCCCTCTCAGCCC AGCCCCGAGGAACACGCAGTGCCCCCCCCCGCCCCCCAGCCCCGCACGTA TGGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02135.hp2 HG02148.hp1 others(3): Show HG01496.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02602.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0027 a0002c0002 others(1): Show a0001c0007 a0001c0027 a0002c0002 a0002c0018	a0001c0007t0005 a0001c0027t0007 a0002c0002t0002 others(2): Show a0001c0007t0005 a0001c0027t0007 a0002c0002t0002 a0002c0002t0003 a0002c0018t0002	a0001c0007t0005g0187 a0001c0027t0007g0136 a0002c0002t0002g0075 others(3): Show a0001c0007t0005g0187 a0001c0027t0007g0136 a0002c0002t0002g0075 a0002c0002t0002g0110 a0002c0002t0003g0196 a0002c0018t0002g0048	6	218	0.0275	-154	c.144 others(17): Show c.1446+152_1447-128del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	8/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168561922	GCATTCTT others(147): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCT CTCAC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	180	0.0056	-154	c.637 others(19): Show c.637+12720_637+12873del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNTG2_chr2_945849_1372613	965204	TGGTCCCC others(147): Show TGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG00642.hp2 HG01074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0078 a0002c0003t0001g0061 a0001c0001t0001g0078 a0002c0003t0001g0061	2	190	0.0105	-154	c.72+ others(17): Show c.72+14137_72+14290del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46169293	ACATCCTC others(147): Show ACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGT GGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGG AGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCT GTGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp2 HG02451.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0047 a0002c0002t0003g0042 a0002c0002t0003g0047	2	251	0.0080	-154	c.194 others(15): Show c.194-789_194-636del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPPL3_chr12_120757510_120909358	120852339	TATATACA others(147): Show TATATACATATTTTACATATATGAAATATATGTATATATAATATACATAT TTTACATATATGAAATATATGCATATATAATATACATATTTTACATATGA AATATATGTATATATAATATACATATTTTACATATATGAAATATATGCAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01257.hp2 HG02129.hp2 others(11): Show HG00423.hp2 HG01257.hp2 HG02129.hp2 HG02135.hp1 HG02572.hp2 HG02976.hp1 HG02976.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03927.hp1 NA18947.hp2 NA19004.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0040	a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 others(11): Show a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0003g0275 a0001c0001t0003g0315 a0001c0001t0011g0039 a0001c0001t0018g0059 a0001c0001t0040g0277	14	320	0.0438	-154	c.24- others(17): Show c.24-41607_24-41454del	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
STK32B_chr4_5046480_5505989	5064353	CATAAATA others(147): Show CATAAATATATACTTATATACATATATAATATATAAATATATACTTATAT ACATATAATATATAAATATATACTTATATACATATAATATATAAATATAT ACTTATATACATATAATATATAAATATATACTTATGTTATATACATATAT AATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(16): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01256.hp1 HG01256.hp2 HG01516.hp1 HG01934.hp1 HG02083.hp1 HG02300.hp1 HG02486.hp1 HG03225.hp2 HG03516.hp1 HG03669.hp1 NA18952.hp1 NA19009.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0015 a0001c0005t0008 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0005t0008 a0002c0002t0001 a0002c0004t0003	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0042 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0015g0054 a0001c0005t0008g0015 a0002c0002t0001g0038 a0002c0002t0001g0066 a0002c0002t0001g0083 a0002c0004t0003g0028	19	170	0.1118	-154	c.52+ others(17): Show c.52+12495_52+12648del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TAF13_chr1_109059140_109081003	109071967	TATATATA others(147): Show TATATATATACACACATATATATATATATATATATATATATATATATACA CACACATATATATATATATATATATATACACACACATATATATATATATA TATATATATACACACACATATATATATATATATATATATATATATATATA CACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp2 HG01346.hp1 others(8): Show HG00642.hp1 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG02572.hp1 HG02886.hp1 HG03516.hp1 HG06807.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 others(7): Show a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0160 a0001c0001t0002g0226 a0001c0001t0004g0036 a0001c0001t0004g0107 a0001c0001t0004g0177 a0001c0001t0004g0200 a0001c0001t0011g0106	11	414	0.0266	-154	c.106 others(17): Show c.106+2866_106+3019del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46859039	TGTGCCCC others(147): Show TGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTG CTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCA GTGCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02895.hp1 others(1): Show HG02451.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0041 a0001c0001t0005g0104 a0001c0001t0005g0105 others(1): Show a0001c0001t0005g0041 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0023g0103	4	112	0.0357	-154	c.638 others(19): Show c.638-19583_638-19430del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859692	GGTCCGCG others(147): Show GGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATA GAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCAT AGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTTCCA TAAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	112	0.0089	-154	c.638 others(19): Show c.638-18895_638-18742del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860405	CATAGAGG others(147): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATCCTT TTTTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 HG03486.hp2 others(1): Show HG02615.hp1 HG03195.hp2 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0040 a0001c0001t0004g0024 a0001c0001t0006g0108 others(1): Show a0001c0001t0002g0040 a0001c0001t0004g0024 a0001c0001t0006g0108 a0001c0001t0010g0025	4	112	0.0357	-154	c.638 others(19): Show c.638-18212_638-18059del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM2_chr5_166974029_168269157	167974177	GAGGAAGG others(147): Show GAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAG GAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGG AAGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0024 a0001c0022t0021g0024	1	54	0.0185	-154	c.948 others(19): Show c.948-18745_948-18592del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THADA_chr2_43225851_43601038	43515185	TAATATAT others(147): Show TAATATATTATATATAATATATAATATATAATATATTATATATAATATAT AATATATAATATATTATATATAATATATAATATATAATATATAATATATT ATATATAATATATAATATGTAATATATAATATTTTATATATAATATATAA TATAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0014 a0018c0022t0001g0014	1	206	0.0049	-154	c.337 others(19): Show c.3375-6559_3375-6406del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129088798	GGGTGTCC others(147): Show GGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGA CCGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTG ACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCA TGACC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	94	0.0106	-154	c.144 others(19): Show c.1444-4250_1444-4097del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113788230	GGGGGTGG others(147): Show GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTG GGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAG GCGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0218 a0001c0001t0062g0218	1	260	0.0039	-154	c.253 others(17): Show c.253-6913_253-6760del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOLLIP_chr11_1269371_1314632	1287741	CGCAGCCT others(147): Show CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCTGCCGCACCCTCTCTGCTGCAGCCTCCCTGCTGCACCCTCC CTGCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	348	0.0029	-154	c.519 others(15): Show c.519+729_519+882del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOP1MT_chr8_143304324_143339880	143323572	CCACACAC others(147): Show CCACACACACAGGCACGCCACACACACACGCACGCCACACACACAGGCAC GCCACACACGCACGCCACACGCACGCCACACACATGCTCACCACACACGC ACGCCACACACATGCACGCCACACACACAGGCACACCACACACATGCACG CCACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(100): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02300.hp1 HG02602.hp2 HG02738.hp1 HG03239.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19078.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0008 a0010 others(3): Show a0001 a0008 a0010 a0014 a0015 a0019	a0001c0001 a0001c0008 a0001c0026 others(6): Show a0001c0001 a0001c0008 a0001c0026 a0001c0027 a0008c0011 a0010c0014 a0014c0030 a0015c0022 a0019c0020	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0026t0001 a0001c0027t0001 a0008c0011t0001 a0010c0014t0001 a0014c0030t0001 a0015c0022t0001 a0019c0020t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(95): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0316 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0359 a0001c0001t0002g0154 a0001c0008t0001g0054 a0001c0008t0001g0069 a0001c0008t0001g0070 a0001c0008t0001g0364 a0001c0026t0001g0162 a0001c0027t0001g0226 a0008c0011t0001g0351 a0010c0014t0001g0313 a0014c0030t0001g0247 a0015c0022t0001g0152 a0019c0020t0001g0358	103	430	0.2395	-154	c.960 others(15): Show c.960+273_960+426del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TSPEAR_chr21_44492893_44716572	44537144	TAGTTTAA others(147): Show TAGTTTAAAAAATACTGGAAAAGCTTTCTAAAATTAATCGAGAACAAGCT AGAACCAACGTTTTTAGAAAATAAGATAGTGGCACCTTCCTTAGGAGCTG TTAGTTTCCTCCTACATATTTAAAAGCTCAATGCAATCCCAATCAAAATT ATAGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp1 HG03471.hp2 others(1): Show HG02895.hp2 HG03195.hp1 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0115 a0001c0001t0003g0134 a0001c0001t0005g0102 others(1): Show a0001c0001t0001g0115 a0001c0001t0003g0134 a0001c0001t0005g0102 a0001c0001t0005g0125	4	294	0.0136	-154	c.304 others(17): Show c.304-3375_304-3222del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	2/11			chr21	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(147): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG06807.hp2 HG01361.hp1 HG01981.hp2 HG06807.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0003 a0003c0003t0002 a0004c0004t0003	a0003c0003t0002g0161 a0003c0003t0002g0167 a0004c0004t0003g0081 a0003c0003t0002g0161 a0003c0003t0002g0167 a0004c0004t0003g0081	3	324	0.0093	-154	c.-11 others(10): Show c.-1128_-975del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(147): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02027.hp1 HG02080.hp1 others(3): Show HG01346.hp2 HG02027.hp1 HG02080.hp1 HG03688.hp2 NA18747.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0082 a0004c0004t0003g0060 a0004c0004t0003g0062 others(3): Show a0001c0001t0001g0082 a0004c0004t0003g0060 a0004c0004t0003g0062 a0004c0004t0003g0064 a0004c0004t0003g0065 a0004c0004t0003g0073	6	324	0.0185	-154	c.-11 others(11): Show c.-1180_-1027del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		909		chr2	TogoVar
WDR70_chr5_37374318_37758435	37415463	ATCCCCCC others(147): Show ATCCCCCCACCTCCCTCCCGGAAGGGGCGGCTGGGGGTGGGGGGGGCCTG ACCCCCCCACCTCACCTCCCTCCCGGGTGGGGCGGCTGGCCGGGCAGGGG GCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGC TGACC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	-154	c.492 others(19): Show c.492+18894_492+19047del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	5/17			chr5	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(147): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	408	0.0025	-154	c.-54 others(9): Show c.-549_-396del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		342		chr7	TogoVar
ZNF611_chr19_52697813_52740044	52732418	TTATTCTG others(147): Show TTATTCTGAATAACTCACAGTATTGAGTTATTCAGAATAACTCACAGTAT TGAGTTATTCAGAATAACTCACAGTATTGAGTTATTCAGAATAACTCACA GTATTGAGTTATTCAGAATAACTCACAGTATTGAGTTATTCAGAATAACT CACAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 NA18950.hp2 others(1): Show HG02258.hp1 HG02970.hp2 NA18950.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0016 a0002c0002t0050 a0002c0003t0026 a0002c0002t0016 a0002c0002t0050 a0002c0003t0026	a0002c0002t0016g0389 a0002c0002t0050g0184 a0002c0003t0026g0182 others(1): Show a0002c0002t0016g0389 a0002c0002t0050g0184 a0002c0003t0026g0182 a0002c0003t0026g0183	4	408	0.0098	-154	c.-22 others(19): Show c.-222+2429_-221-2414del	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ZPBP_chr7_49932441_50098246	49981943	GATTATAT others(147): Show GATTATATAATTATATGAATTATATAGATTATATAATTATATGAATTATA TAGATTATATAATTATATGAATTATATAGATTATATAATTATATGAATTA TATAGATTATATAATTATATGAATTATATAATTATATAATTATATGAATT ATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0246 a0001c0001t0001g0222 a0001c0001t0001g0246	2	278	0.0072	-154	c.961 others(17): Show c.961+1245_961+1398del	ZPBP	ENSG00000042813.8	transcript	ENST00000046087.7	protein_coding	7/7			chr7	TogoVar
ACAP2_chr3_195269745_195448020	195272794	AAAAAGTA others(146): Show AAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGA GGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAG CCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTG TCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA19006.hp1 NA19078.hp2 NA18942.hp2 NA19006.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027	3	324	0.0093	-153	c.63 others(11): Show c.6381_*6533del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1950		chr3	TogoVar
ADGRD1_chr12_130948907_131146469	131128885	GGGTGTGA others(146): Show GGGTGTGAGTGACAGGCCGGCCCTGCTGTCTGGGTGTGAGTGACAGCCCC GCCCTGCTGTCTGGGTGTGAGTGACAGGCCGGCCCTCCTGTCTGGGTGTG AGTGGCAGCCCCGCCCTGCTGTCTGGTGTGAGTGACAGGCCCGCCCTGCT GTCT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02083.hp2 others(15): Show HG01261.hp1 HG02055.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02647.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03688.hp1 HG03710.hp2 HG04199.hp2 NA18957.hp1 NA18983.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 others(8): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 a0001c0001t0028 a0001c0003t0004 a0001c0003t0012 a0001c0003t0013 a0001c0003t0033 a0001c0003t0034 a0001c0003t0044 a0001c0007t0006	a0001c0001t0002g0187 a0001c0001t0011g0033 a0001c0001t0011g0062 others(15): Show a0001c0001t0002g0187 a0001c0001t0011g0033 a0001c0001t0011g0062 a0001c0001t0011g0066 a0001c0001t0011g0074 a0001c0001t0011g0220 a0001c0001t0023g0143 a0001c0001t0028g0205 a0001c0003t0004g0012 a0001c0003t0004g0198 a0001c0003t0012g0063 a0001c0003t0012g0088 a0001c0003t0013g0224 a0001c0003t0013g0225 a0001c0003t0033g0181 a0001c0003t0034g0014 a0001c0003t0044g0079 a0001c0007t0006g0021	18	242	0.0744	-153	c.217 others(19): Show c.2176-2754_2176-2602del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar

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