Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CEND1_chr11_782115_795090	785676	TGGCCTTC others(123): Show TGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTAGCTA TATTTTTATTGTACAGACAGAGGTCTCACTGTGTTGGCCAGGCTGGTCTC AAACTCCTGAGCTCAAGCCATCTATCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0032 a0001c0001t0020g0032	1	414	0.0024	-130	c.23 others(11): Show c.2321_*2450del	CEND1	ENSG00000184524.6	transcript	ENST00000330106.5	protein_coding		1438		chr11	TogoVar
CENPVL3_chrX_51612020_51623912	51621560	CTTCTTCT others(123): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01517.hp2 others(17): Show HG00741.hp2 HG01081.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp2 HG02083.hp1 HG02280.hp1 HG02886.hp2 HG02976.hp2 HG03453.hp1 HG03688.hp1 NA18942.hp2 NA18947.hp2 NA18966.hp1 NA18975.hp2 NA18988.hp1 NA19009.hp1 NA19055.hp1 NA19079.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000	20	298	0.0671	-130	c.-28 others(11): Show c.-2817_-2688del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2649		chrX	TogoVar
CFAP251_chr12_121913592_122008919	121994022	GGGGGGGG others(123): Show GGGGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTG AGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0305 a0001c0004t0001g0305	1	354	0.0028	-130	c.300 others(19): Show c.3007-5685_3007-5556del	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHRM3_chr1_239381568_239920450	239732430	CTTAGATA others(123): Show CTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAATATCT CACTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAATAT CTCACTTAGATAAGTATACCTAATATCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp2 NA19030.hp1 HG01243.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0039 a0001c0001t0005 a0001c0001t0026 a0001c0001t0039	a0001c0001t0005g0073 a0001c0001t0026g0091 a0001c0001t0039g0112 a0001c0001t0005g0073 a0001c0001t0026g0091 a0001c0001t0039g0112	3	116	0.0259	-130	c.-14 others(21): Show c.-147+54272_-147+54401del	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLN8_chr8_1758789_1791570	1763507	CCCCCCGC others(123): Show CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC CGCCCCCCGCGCCGCGCCCCGCCCCCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	413	0.0024	-130	c.-50 others(9): Show c.-501_-372del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		281		chr8	TogoVar
COL18A1_chr21_45400165_45518720	45437740	TCACACAC others(123): Show TCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTCACTCAC ACACAGACACACAGGCACTCTCCTGCACACACTCACACTCAGACAAGCAC TCTCCTGCACACACTCACACTCACACTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0062 a0001c0037t0001g0157 a0001c0037t0001g0062 a0001c0037t0001g0157	2	292	0.0069	-130	c.107 others(19): Show c.107-30495_107-30366del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45438254	ACACACAC others(123): Show ACACACACTCACACTCAGACACACAGGCACTCTCCTGCACACACACACAC TCAGACACACAGGCACTCTCCTGCACACACACACACTCACACACTCAGAC ACACAGGCACTCTCCTGCACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(51): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0010 a0029	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0035 a0001c0041 a0001c0063 a0001c0087 a0001c0089 a0001c0090 a0001c0092 a0001c0093 a0005c0023 a0005c0091 a0006c0036 a0010c0014 a0029c0097	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0035t0001 a0001c0041t0001 a0001c0063t0001 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0092t0011 a0001c0093t0001 a0005c0023t0002 a0005c0091t0001 a0006c0036t0001 a0010c0014t0001 a0029c0097t0001	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(51): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0041t0001g0155 a0001c0063t0001g0144 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0092t0011g0190 a0001c0093t0001g0251 a0005c0023t0002g0138 a0005c0023t0002g0163 a0005c0091t0001g0056 a0006c0036t0001g0245 a0006c0036t0001g0292 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0029c0097t0001g0036	54	292	0.1849	-130	c.107 others(19): Show c.107-29977_107-29848del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501861	CCAGGGGC others(123): Show CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC AGCCGGTCACCTCCCTCTGCAGAAGGACCCT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0243 a0001c0002t0002g0091 a0001c0001t0001g0243 a0001c0002t0002g0091	2	292	0.0069	-130	c.268 others(19): Show c.2684-2141_2684-2012del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501959	GCAGCCGG others(123): Show GCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACC TCCCTCTGCCGAAGGACCCCCAGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03710.hp2 HG00609.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0083 a0001c0004 a0002c0083	a0001c0004t0001 a0002c0083t0001 a0001c0004t0001 a0002c0083t0001	a0001c0004t0001g0274 a0002c0083t0001g0237 a0001c0004t0001g0274 a0002c0083t0001g0237	2	292	0.0069	-130	c.268 others(19): Show c.2684-2020_2684-1891del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110355680	GGGTGGAG others(123): Show GGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGG GTGGAGGGCTGTACAGCTCACCTGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02056.hp1 HG02132.hp2 others(3): Show HG01496.hp1 HG02056.hp1 HG02132.hp2 HG03704.hp1 NA18612.hp1 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0025 others(3): Show a0001c0001 a0001c0003 a0001c0025 a0002c0092 a0003c0026 a0005c0021	a0001c0001t0003 a0001c0003t0001 a0001c0025t0002 others(3): Show a0001c0001t0003 a0001c0003t0001 a0001c0025t0002 a0002c0092t0001 a0003c0026t0001 a0005c0021t0041	a0001c0001t0003g0091 a0001c0003t0001g0165 a0001c0025t0002g0346 others(3): Show a0001c0001t0003g0091 a0001c0003t0001g0165 a0001c0025t0002g0346 a0002c0092t0001g0230 a0003c0026t0001g0112 a0005c0021t0041g0072	6	372	0.0161	-130	c.100 others(17): Show c.100-1789_100-1660del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CSMD1_chr8_2930361_4999914	2973855	ATGGTAGA others(123): Show ATGGTAGAGGATGGTGGTAGAGGATGATGGTAGAGGATGATGGTAGAGGA TGGTGGTAGAGGATGGTGGTAGAGGATGGTGGTAGAGGATGATGGTAGAG GATGATGGTAGAGGATGGTGGTAGAGGATGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0080 a0004c0057t0080	a0004c0057t0080g0075 a0004c0057t0080g0075	1	126	0.0079	-130	c.874 others(17): Show c.8740+466_8741-557del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	56/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3183261	AAACTGAA others(123): Show AAACTGAACGCCTAATCTATCTATCCCTGAAACATCGAGTAGGTCTCTAA CGCCTAATCTATCTATCCCTGAAATATCGAGTAGGTCTCTAATGTTTCTT AACGATACCATCGGCACCCACCGACGTCACG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	126	0.0079	-130	c.562 others(19): Show c.5621-2177_5621-2048del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3183391	GAACTGAA others(123): Show GAACTGAACGCCTAATCTATCTATCCCTGAAACATCGAGTAGGTCTCTAA CGCCTAATCTATCTATCCCTGAAATATCGAGTAGGTCTCTAACGTTTCTT AAAGATACCATCGGCATCCATCCACGTCACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01074.hp2 others(29): Show HG00423.hp2 HG00438.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02257.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03834.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA19043.hp1 NA19074.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0015 a0019 a0022 a0023 a0024 a0026 a0030 a0036 a0039	a0001c0001 a0001c0004 a0001c0026 others(29): Show a0001c0001 a0001c0004 a0001c0026 a0001c0033 a0001c0040 a0001c0061 a0001c0079 a0001c0081 a0001c0093 a0001c0111 a0002c0015 a0002c0022 a0002c0036 a0002c0037 a0002c0074 a0002c0076 a0002c0089 a0003c0056 a0004c0057 a0005c0064 a0005c0107 a0007c0083 a0008c0088 a0015c0063 a0019c0082 a0022c0062 a0023c0069 a0024c0052 a0026c0100 a0030c0106 a0036c0095 a0039c0010	a0001c0001t0039 a0001c0004t0063 a0001c0026t0006 others(29): Show a0001c0001t0039 a0001c0004t0063 a0001c0026t0006 a0001c0033t0003 a0001c0040t0019 a0001c0061t0001 a0001c0079t0072 a0001c0081t0037 a0001c0093t0009 a0001c0111t0045 a0002c0015t0021 a0002c0022t0036 a0002c0036t0029 a0002c0037t0009 a0002c0074t0041 a0002c0076t0035 a0002c0089t0001 a0003c0056t0062 a0004c0057t0080 a0005c0064t0051 a0005c0107t0068 a0007c0083t0004 a0008c0088t0076 a0015c0063t0010 a0019c0082t0052 a0022c0062t0056 a0023c0069t0043 a0024c0052t0049 a0026c0100t0017 a0030c0106t0012 a0036c0095t0002 a0039c0010t0070	a0001c0001t0039g0017 a0001c0004t0063g0095 a0001c0026t0006g0093 others(29): Show a0001c0001t0039g0017 a0001c0004t0063g0095 a0001c0026t0006g0093 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0061t0001g0021 a0001c0079t0072g0113 a0001c0081t0037g0030 a0001c0093t0009g0007 a0001c0111t0045g0063 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0074t0041g0031 a0002c0076t0035g0014 a0002c0089t0001g0037 a0003c0056t0062g0072 a0004c0057t0080g0075 a0005c0064t0051g0078 a0005c0107t0068g0073 a0007c0083t0004g0006 a0008c0088t0076g0057 a0015c0063t0010g0045 a0019c0082t0052g0097 a0022c0062t0056g0062 a0023c0069t0043g0100 a0024c0052t0049g0098 a0026c0100t0017g0121 a0030c0106t0012g0042 a0036c0095t0002g0124 a0039c0010t0070g0084	32	126	0.2540	-130	c.562 others(19): Show c.5621-2307_5621-2178del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486122	CATATATA others(123): Show CATATATATATATATACATACATATATATATATATACATACATATATATA TATACATACATATATATATATATATATACATACATATATATATATATATA TATACATACATATATATATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18971.hp2 HG00438.hp2 NA18971.hp2	a0001 a0036 a0001 a0036	a0001c0081 a0036c0095 a0001c0081 a0036c0095	a0001c0081t0037 a0036c0095t0002 a0001c0081t0037 a0036c0095t0002	a0001c0081t0037g0030 a0036c0095t0002g0124 a0001c0081t0037g0030 a0036c0095t0002g0124	2	126	0.0159	-130	c.303 others(19): Show c.303-66187_303-66058del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47097362	TGGGAGGT others(123): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01081.hp1 others(14): Show HG00438.hp2 HG00642.hp1 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG02004.hp2 HG02145.hp1 HG02602.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 NA18960.hp2 NA18964.hp1 NA18978.hp2 NA19083.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 a0001c0001t0001 a0001c0001t0003 a0003c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0073 a0001c0001t0001g0083 others(14): Show a0001c0001t0001g0047 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0126 a0003c0002t0001g0086 a0003c0002t0001g0087	17	224	0.0759	-130	c.281 others(19): Show c.281-40186_281-40057del	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CYLC2_chr9_102990333_103023488	103014653	GTATACAC others(123): Show GTATACACCATATGTATATTATGCAGTATACATATGTAATATACGTATGT ATATTATGCAATATACATATGTAATATACGTATGTATATTATGCAATATA CATATGTAATATACGTATGTATATTATGCAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02723.hp2 HG02886.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0041 a0007c0006t0041	a0007c0006t0041g0031 a0007c0006t0041g0031	2	448	0.0045	-130	c.81 others(19): Show c.817-2228_*817-2099del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYTH1_chr17_78669048_78787273	78760377	ATATATAT others(123): Show ATATATATACACACACATACATATATATATGTGTATATATATATATATAC ACATACATATATATATGTATATATATATACATACATATATATATGTATAT ATATGTATGTATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01109.hp2 others(18): Show HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01928.hp1 HG01952.hp1 HG02027.hp2 HG02109.hp2 HG02300.hp2 HG02486.hp1 HG03225.hp1 HG03654.hp1 HG04115.hp2 NA18522.hp2 NA18965.hp2 NA18988.hp2 NA19070.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0010	a0001c0001t0001g0177 a0001c0001t0002g0012 a0001c0001t0002g0013 others(18): Show a0001c0001t0001g0177 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0307 a0001c0001t0002g0315 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0007g0210 a0001c0002t0010g0357 a0001c0002t0010g0360	21	378	0.0556	-130	c.22+ others(17): Show c.22+21695_22+21824del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DDX51_chr12_132131594_132149319	132148964	CCACACCC others(123): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0044 a0002c0002t0003g0044	1	334	0.0030	-130	c.-47 others(11): Show c.-4798_-4669del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4646		chr12	TogoVar
DENND5A_chr11_9133825_9270350	9239454	AGCCTCCC others(123): Show AGCCTCCCAAGTAGCTGAGACTACAGGCATGCACCACTACACTCAGCTTT TTATTTTTTGTAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCTCGA AATCCTGGGCTCAAGCCATCCTCCTGCCTCC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0266 a0003c0005t0001g0225 a0001c0001t0001g0266 a0003c0005t0001g0225	2	284	0.0070	-130	c.109 others(19): Show c.109+25377_109+25506del	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	1/22			chr11	TogoVar
DGKB_chr7_14140049_14907751	14211446	TATTTACT others(123): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0147 a0001c0001t0041g0147	1	148	0.0068	-130	c.212 others(21): Show c.2123-33425_2123-33296del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211532	TTTTACTC others(123): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	1	148	0.0068	-130	c.212 others(21): Show c.2123-33511_2123-33382del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211896	TTTTACTC others(123): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0014 a0001c0002t0034g0014	1	148	0.0068	-130	c.212 others(21): Show c.2123-33875_2123-33746del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DNAH9_chr17_11593470_11974748	11694647	TCGCTTTC others(123): Show TCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC GCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0019 a0009c0025t0002g0019	1	178	0.0056	-130	c.487 others(17): Show c.4872+201_4872+330del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DOCK9_chr13_98788429_98983064	98931782	CAGATGGG others(123): Show CAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAACTC AAGCAATCCACCTGCCTCACACTCCCAAAGCACTAGGATTACAGGTGTGA GCCACCACACCCAGCCTTATTCTTTAAATAG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03710.hp1 HG02080.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0040 a0001c0001t0001g0041	2	348	0.0058	-130	c.244 others(17): Show c.244-1655_244-1526del	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DPP9_chr19_4670227_4728842	4671982	CATATATT others(123): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATTCATATATTCACATATGTGAATATATATTCATATATTCATATA TACTTATATATTCATATATTCATATATACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02809.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0243 a0001c0002t0002g0244	2	314	0.0064	-130	c.44 others(11): Show c.4452_*4581del	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3244		chr19	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537904	TATATATA others(123): Show TATATATATAATTTATATATATAATATATATATAATATATATATAATTTA TATATATAATATATATATATTTATATATAATATATATATATAATTTATAT ATATAATATATATATATAATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20129.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0285 a0001c0001t0006g0047 a0001c0001t0006g0285	2	336	0.0060	-130	c.739 others(15): Show c.739-930_739-801del	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
EIPR1_chr2_3183970_3382818	3315169	CCACCCCC others(123): Show CCACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCAC CATCCCCATACACACCCCCTACCACCATCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	250	0.0040	-130	c.259 others(19): Show c.259+22718_259+22847del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ETF1_chr5_138501095_138548236	138504880	GTTCCTAG others(123): Show GTTCCTAGGTCCCCTGAGACCCAGTCCCATCAGGGCTGGACTTGGCAGGC AGGAATCCCCTGGCATTCACTCAAGCTGGCAACAAAGGAGAAGCTGGCAT GAAACTTAAATTCCACCTTGGCTCTCAGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	334	0.0030	-130	c.32 others(11): Show c.3295_*3424del	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		1214		chr5	TogoVar
FAM210A_chr18_13658347_13731558	13675376	AACATTCC others(123): Show AACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTC CTGAGCCCTGGCTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGA GCCCCGACTTCATTTCCAGCTTCCTGATTAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18941.hp2 NA18946.hp1 others(4): Show HG02083.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp2 NA19003.hp2 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0239	7	326	0.0215	-130	c.474 others(17): Show c.474-3533_474-3404del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM9B_chrX_9019232_9039127	9022593	TTATATTA others(123): Show TTATATTATGTATAAGATATAATATATATTATATTATGTATAAGATATAA TATATATTATATTATGTATAAGATATAATATATATTATATTATGTATAAG ATATAATATATATTATGTATAAGATATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	258	0.0039	-130	c.26 others(11): Show c.2686_*2815del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1638		chrX	TogoVar
GALNT9_chr12_132191372_132334589	132235660	CCCCTCGG others(123): Show CCCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGG GACAGGGCAGGAGGGTCCCCCGGGCTGGAGTGAGTTCAACCCTCGGGACA GGGCAGGAGGGTCCCCCGGGCTGGAGTTCAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02735.hp2 HG03017.hp1 others(3): Show HG01243.hp1 HG02735.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0018 others(2): Show a0001c0002 a0001c0006 a0001c0018 a0001c0021 a0001c0041	a0001c0002t0001 a0001c0006t0001 a0001c0018t0001 others(2): Show a0001c0002t0001 a0001c0006t0001 a0001c0018t0001 a0001c0021t0004 a0001c0041t0015	a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 others(3): Show a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0018t0001g0047 a0001c0021t0004g0155 a0001c0041t0015g0178	6	183	0.0328	-130	c.107 others(21): Show c.1077+12120_1077+12249del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817587	TCCTCCAC others(123): Show TCCTCCACGCTCTAAGGTGAACTCACCCTCCACACCTCCACGCTCTAAGG TGAACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACT CCTCCACGCTCTAAGGTGAACCCGCCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0247 a0004c0005t0005g0247	1	308	0.0033	-130	c.134 others(15): Show c.134-905_134-776del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GSTCD_chr4_105703784_105852725	105755844	ACTATAAA others(123): Show ACTATAAACAGAAATCAACTTCAGGGCTTTCACAGCAGGTATGTATAGTT TATGTATAAACTACAGTCATCTCTCATGGTGTATCACCATGTGATATGGG TACATGGTTCCCACCACTGGCCATGGTTCCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	186	0.0054	-130	c.124 others(21): Show c.1240+26346_1240+26475del	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11			chr4	TogoVar
HACL1_chr3_15555699_15606569	15592574	GCACATGT others(123): Show GCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACAC ATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGT ATACACATGTACGCACATGTGTGCGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	428	0.0023	-130	c.228 others(16): Show c.228-1024_228-895del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HDAC4_chr2_239043168_239406020	239232710	CCCTCACC others(123): Show CCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGTGGCCC TTCCCTCTCCAAGCCAAGGGCGGCCCTTCCCCTCACCAAGCCAAGGGTGG CCCTTCCCTCACCAAGCCAAGGGTGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp1 HG02717.hp1 NA19043.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0019 a0001c0016t0003 a0001c0016t0019	a0001c0016t0003g0029 a0001c0016t0019g0130 a0001c0016t0003g0029 a0001c0016t0019g0130	2	242	0.0083	-130	c.94+ others(15): Show c.94+3753_94+3882del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18732872	CACACACG others(123): Show CACACACGTGTGCGTATGTGTACACACACACGTGTGCGTATGTGTATACA CACGTGTGTATGTATGTGTATACACACGTGTATGTGTGTGTATGTGTATA TACACATGTGTATGTGTGTGTATGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0138 a0001c0002t0006g0138	1	156	0.0064	-130	c.190 others(19): Show c.1909+5121_1909+5250del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786666	CTCCCTTC others(123): Show CTCCCTTCCTTCCTTTTTGCTCACATATCCCTTTCTGTGTCCTCGGTTTC TGTTGCATGCGCCTCTTGAGTCTAGCTTTCTTTCCTTCCTTTTCTTTTTT CTCTCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	156	0.0064	-130	c.221 others(19): Show c.2215-6677_2215-6548del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HMGXB4_chr22_35252493_35300807	35252822	AGAAACCC others(123): Show AGAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGATGGCA CGCGCCTGTAATCCCAGCTCGGGAGGCTGAGGCAGGCGGATCACCTGAGA TCAGAAGTTCAAGACCAGCTGGCCAACATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	342	0.0029	-130	c.-48 others(11): Show c.-4803_-4674del	HMGXB4	ENSG00000100281.14	transcript	ENST00000216106.6	protein_coding		4670		chr22	TogoVar
HOMEZ_chr14_23267422_23291132	23279806	CTCGTTAT others(123): Show CTCGTTATGTTGCCCAGGCTGGCGTGCTATGCATAGGTGCAATCATAATG CACTACAGCCTCGAATTCCTGGGATCAAGTGACCCTCCTGCCTCAACCTC CTGAGTAGTTAGAACTACAGGTGCACAACAT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0129 a0003c0003t0002g0129	1	394	0.0025	-130	c.41- others(15): Show c.41-2749_41-2620del	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HRH3_chr20_62209960_62225278	62213457	GGGGAAGG others(123): Show GGGGAAGGGAGAGCAGGGATGGGGGGTAAGGAGAGCGGGGATGGGGGGTA AGGAGAGCGGGGATGGGGGAAGGAGAGCGGGGATGGGGGAAGGGAGAGCA GGGATGGGGGGGAAGGAGAGCGGGGATGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	-130	c.24 others(11): Show c.2419_*2548del	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1502		chr20	TogoVar
IL1RAPL1_chrX_28582446_29961718	29803172	CATACATA others(123): Show CATACATATATGTATATATGTATACATATACACACATGTATATATGTATA CATATACACACATGTATATATGTATACATATACACACATGTATATATGTA TACATATACACACATGTATATATGTATACAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	135	0.0074	-130	c.779 others(21): Show c.779-114286_779-114157del	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29803180	TATGTATA others(123): Show TATGTATATATGTATACATATACACACATGTATATATGTATACATATACA CACATGTATATATGTATACATATACACACATGTATATATGTATACATATA CACACATGTATATATGTATACATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(75): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01099.hp1 HG01167.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01943.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0005t0005 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0058 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0049 a0001c0001t0004g0002 a0001c0001t0004g0069 a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0005g0007 a0001c0001t0005g0056 a0001c0001t0005g0074 a0001c0001t0005g0083 a0001c0001t0005g0091 a0001c0001t0005g0096 a0001c0001t0005g0105 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0006g0123 a0001c0001t0007g0066 a0001c0001t0007g0107 a0001c0001t0008g0059 a0001c0001t0009g0089 a0001c0001t0011g0024 a0001c0001t0012g0032 a0001c0001t0014g0097 a0001c0001t0015g0046 a0001c0005t0005g0094 a0003c0004t0002g0044	78	135	0.5778	-130	c.779 others(21): Show c.779-114265_779-114136del	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAKMIP1_chr4_6021199_6205549	6170705	TCACCACC others(123): Show TCACCACCACCATCCCCATCCCCATCACCACCCTTGCCACCACAATCACC ACCACATCCCCATCACCATCCCACCCTCACCACCACCACTACACTTCCAT CACTATCACCACCATCCCAGAACCACCACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00558.hp2 others(62): Show HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00621.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp2 NA18966.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19066.hp2 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0004g0223 a0001c0001t0005g0002 a0001c0003t0001g0005 a0001c0007t0001g0017	65	233	0.2790	-130	c.-14 others(21): Show c.-148+29418_-148+29547del	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JRK_chr8_142652460_142674967	142674298	GTTTCAGT others(123): Show GTTTCAGTCTAACCTCAGCAGAGCTCAGACTCCCCTCATCTTCCTAATGA ATAACGGCTGGGAATCGTTTCAGTCTAACCTCAGCAGAGCTCAGATCCCC CATCTTCCTAATGAATAACGGCTGGGAATCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01109.hp1 others(34): Show HG00438.hp2 HG00597.hp2 HG01109.hp1 HG01884.hp2 HG01928.hp2 HG02015.hp2 HG02135.hp1 HG02622.hp2 HG02683.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp1 HG03579.hp2 HG03834.hp2 NA18941.hp2 NA18944.hp1 NA18950.hp1 NA18961.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19084.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0032 a0003c0005 a0010c0012	a0001c0001t0001 a0001c0003t0005 a0001c0003t0058 others(14): Show a0001c0001t0001 a0001c0003t0005 a0001c0003t0058 a0001c0003t0059 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0002c0002t0017 a0002c0002t0024 a0002c0002t0033 a0002c0002t0071 a0002c0004t0016 a0002c0004t0074 a0002c0032t0016 a0003c0005t0007 a0003c0005t0030 a0010c0012t0002	a0001c0001t0001g0010 a0001c0003t0005g0042 a0001c0003t0005g0062 others(23): Show a0001c0001t0001g0010 a0001c0003t0005g0042 a0001c0003t0005g0062 a0001c0003t0005g0191 a0001c0003t0058g0202 a0001c0003t0059g0203 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0026 a0002c0002t0003g0004 a0002c0002t0003g0019 a0002c0002t0003g0213 a0002c0002t0013g0085 a0002c0002t0017g0031 a0002c0002t0017g0080 a0002c0002t0024g0047 a0002c0002t0033g0048 a0002c0002t0071g0210 a0002c0004t0016g0064 a0002c0004t0016g0198 a0002c0004t0074g0196 a0002c0032t0016g0197 a0003c0005t0007g0007 a0003c0005t0030g0061 a0010c0012t0002g0099	37	466	0.0794	-130	c.-49 others(11): Show c.-4959_-4830del	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding		4332		chr8	TogoVar
KATNIP_chr16_27545144_27785344	27661947	TATATATA others(123): Show TATATATATACACATACATATATATATATATATATATATACACATACATA TATATATATATATATATATACACATACATATATATATATATATATACACA TACATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02886.hp2 others(1): Show HG02055.hp2 HG02615.hp2 HG02886.hp2 HG03516.hp2	a0004 a0007 a0004 a0007	a0004c0007 a0007c0016 a0007c0031 a0004c0007 a0007c0016 a0007c0031	a0004c0007t0001 a0007c0016t0001 a0007c0031t0001 a0004c0007t0001 a0007c0016t0001 a0007c0031t0001	a0004c0007t0001g0075 a0004c0007t0001g0105 a0007c0016t0001g0077 others(1): Show a0004c0007t0001g0075 a0004c0007t0001g0105 a0007c0016t0001g0077 a0007c0031t0001g0107	4	152	0.0263	-130	c.540 others(19): Show c.540+13222_540+13351del	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KIAA1958_chr9_112481827_112674397	112514820	CGCCCGGC others(123): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02056.hp1 HG02129.hp1 others(17): Show HG00673.hp2 HG02056.hp1 HG02129.hp1 HG02622.hp1 HG03195.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18975.hp2 NA18978.hp1 NA18988.hp1 NA18991.hp1 NA19000.hp2 NA19055.hp1 NA19056.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0059 a0001c0001t0069 a0001c0002t0004 a0001c0002t0027	a0001c0001t0001g0065 a0001c0001t0001g0098 a0001c0001t0001g0102 others(17): Show a0001c0001t0001g0065 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0002g0063 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0125 a0001c0001t0059g0004 a0001c0001t0069g0123 a0001c0002t0004g0100 a0001c0002t0027g0026 a0001c0002t0027g0027	20	308	0.0649	-130	c.-25 others(19): Show c.-25+27742_-25+27871del	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KLHL31_chr6_53642916_53670756	53665946	AAGAAAAG others(123): Show AAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00597.hp2 others(29): Show HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG01167.hp2 HG01257.hp2 HG01516.hp2 HG01934.hp1 HG02083.hp2 HG02293.hp2 HG02683.hp1 HG03239.hp1 HG03669.hp1 NA18747.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18987.hp2 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0004 a0001c0001 a0001c0013 a0002c0004	a0001c0001t0076 a0001c0001t0078 a0001c0013t0072 others(4): Show a0001c0001t0076 a0001c0001t0078 a0001c0013t0072 a0002c0004t0007 a0002c0004t0017 a0002c0004t0026 a0002c0004t0060	a0001c0001t0076g0269 a0001c0001t0078g0283 a0001c0013t0072g0268 others(23): Show a0001c0001t0076g0269 a0001c0001t0078g0283 a0001c0013t0072g0268 a0002c0004t0007g0059 a0002c0004t0007g0060 a0002c0004t0007g0061 a0002c0004t0007g0064 a0002c0004t0007g0270 a0002c0004t0007g0271 a0002c0004t0007g0272 a0002c0004t0007g0274 a0002c0004t0007g0276 a0002c0004t0007g0278 a0002c0004t0007g0279 a0002c0004t0007g0280 a0002c0004t0007g0281 a0002c0004t0007g0282 a0002c0004t0007g0284 a0002c0004t0007g0286 a0002c0004t0017g0020 a0002c0004t0017g0062 a0002c0004t0017g0285 a0002c0004t0026g0267 a0002c0004t0026g0275 a0002c0004t0026g0277 a0002c0004t0060g0273	32	420	0.0762	-130	c.-50 others(9): Show c.-509_-380del	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		191		chr6	TogoVar
LCN15_chr9_136754634_136769518	136769183	CCCCCCCC others(123): Show CCCCCCCCGCCACCCTGCCACCCCCCCATGCACTGCCCCCCCCGCCACCC CCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCC CCCCGCCACCCCGCCACCCCTCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-130	c.-48 others(11): Show c.-4825_-4696del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4666		chr9	TogoVar
LMF1_chr16_848634_975984	922620	GCGTGTTG others(123): Show GCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGTGT GATGTGGTATTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCC TGGGTTTTCGGGTGTGATGTGGTGTTGGCGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	294	0.0034	-130	c.514 others(19): Show c.514+11494_515-11542del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(123): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02145.hp1 HG02257.hp1 others(2): Show HG00597.hp2 HG02145.hp1 HG02257.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0002g0159 a0001c0001t0002g0160 others(2): Show a0001c0001t0001g0046 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0165	5	238	0.0210	-130	c.179 others(19): Show c.1791+1307_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar

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