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
KRTAP19-5_chr21_30496657_30507141	30498216	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	-20	c.36 others(31): Show c.3636_*3655delCACACACACACACACACACA	KRTAP19-5	ENSG00000186977.3	transcript	ENST00000334151.3	protein_coding		3440		chr21	TogoVar
KRTAP19-8_chr21_31033159_31043476	31042756	CATATATA others(13): Show CATATATACACATATACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA21309.hp1 HG02055.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	378	0.0053	-20	c.-43 others(31): Show c.-4333_-4314delATGTGTATATGTGTATATAT	KRTAP19-8	ENSG00000206102.2	transcript	ENST00000382822.2	protein_coding		4281		chr21	TogoVar
KRTAP23-1_chr21_30343399_30353606	30348862	CTCTCTCT others(13): Show CTCTCTCTCTCTCTGTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02451.hp1 others(4): Show HG00639.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp2 HG02717.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	422	0.0166	-20	c.-27 others(29): Show c.-276_-257delAAGAGACAGAGAGAGAGAGA	KRTAP23-1	ENSG00000186980.7	transcript	ENST00000334160.6	protein_coding		257		chr21	TogoVar
KRTAP3-3_chr17_40988430_40999164	40988466	ACACACAT others(13): Show ACACACATGCACACACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01069.hp1 others(38): Show HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01515.hp1 HG01993.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18957.hp2 NA18963.hp2 NA18979.hp2 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19067.hp1 NA19074.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0002t0001 a0001c0004t0006 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0006 a0003c0007t0001 a0005c0009t0001 a0006c0011t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0006g0000 others(3): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0006g0000 a0003c0007t0001g0000 a0005c0009t0001g0000 a0006c0011t0001g0000	41	471	0.0871	-20	c.53 others(31): Show c.5315_*5334delCGTGTGTGTGTGCATGTGTG	KRTAP3-3	ENSG00000212899.3	transcript	ENST00000391586.3	protein_coding		4963		chr17	TogoVar
KRTAP4-5_chr17_41143924_41154825	41145114	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01081.hp2 others(19): Show HG00280.hp2 HG01069.hp1 HG01081.hp2 HG01258.hp1 HG01891.hp2 HG02257.hp1 HG02630.hp1 HG02818.hp2 HG03017.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA19043.hp2 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0006c0006 a0007c0007	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 others(2): Show a0001c0001t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0006c0006t0001g0000 a0007c0007t0001g0000	22	402	0.0547	-20	c.40 others(31): Show c.4088_*4107delAAGGAAGGAAGGAAGGAAGG	KRTAP4-5	ENSG00000198271.5	transcript	ENST00000343246.6	protein_coding		3809		chr17	TogoVar
KRTAP4-5_chr17_41143924_41154825	41147842	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03041.hp2 HG01243.hp1 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	2	402	0.0050	-20	c.13 others(31): Show c.1360_*1379delTTTCCTTCCTTCCTTCCTTC	KRTAP4-5	ENSG00000198271.5	transcript	ENST00000343246.6	protein_coding		1081		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41145114	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01081.hp1 others(22): Show HG00280.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01891.hp1 HG02257.hp1 HG02630.hp2 HG02818.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA19043.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0011 a0003c0013 others(1): Show a0001c0001 a0001c0011 a0003c0013 a0004c0005	a0001c0001t0001 a0001c0011t0001 a0003c0013t0006 others(1): Show a0001c0001t0001 a0001c0011t0001 a0003c0013t0006 a0004c0005t0001	a0001c0001t0001g0000 a0001c0011t0001g0000 a0003c0013t0006g0000 others(1): Show a0001c0001t0001g0000 a0001c0011t0001g0000 a0003c0013t0006g0000 a0004c0005t0001g0000	25	438	0.0571	-20	c.-46 others(31): Show c.-4647_-4628delAAGGAAGGAAGGAAGGAAGG	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		4571		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41090044	AAAGAAAG others(13): Show AAAGAAAGAAAGCAAGCAAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02698.hp1 HG02717.hp2 others(7): Show HG01258.hp2 HG02698.hp1 HG02717.hp2 HG03130.hp1 HG03209.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG04199.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0003 a0014c0015 a0001c0001 a0003c0003 a0014c0015	a0001c0001t0001 a0003c0003t0001 a0014c0015t0001 a0001c0001t0001 a0003c0003t0001 a0014c0015t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0014c0015t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000 a0014c0015t0001g0000	10	442	0.0226	-20	c.53 others(31): Show c.5371_*5390delAAGAAAGAAAGCAAGCAAGC	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		4901		chr17	TogoVar
KRTAP5-8_chr11_71533025_71544209	71536831	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG02896.hp2 others(2): Show HG02615.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	442	0.0113	-20	c.-12 others(31): Show c.-1224_-1205delAAAAAAAAAAAAAAAAAAAA	KRTAP5-8	ENSG00000241233.4	transcript	ENST00000398534.4	protein_coding		1193		chr11	TogoVar
KRTAP5-9_chr11_71543420_71554608	71552730	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA20300.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	2	422	0.0047	-20	c.35 others(31): Show c.3564_*3583delTTTTTTTTTTTTTTTTTTTT	KRTAP5-9	ENSG00000254997.4	transcript	ENST00000528743.4	protein_coding		3123		chr11	TogoVar
KRTAP7-1_chr21_30824039_30834759	30826678	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	426	0.0047	-20	c.27 others(31): Show c.2737_*2756delGTCTATCTATCTATCTATCT	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding		2360		chr21	TogoVar
KRTAP9-3_chr17_41227449_41238454	41235836	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG01358.hp2 others(6): Show HG01109.hp1 HG01255.hp2 HG01358.hp2 HG02886.hp1 HG03688.hp1 HG03704.hp2 NA18952.hp1 NA18952.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0000 a0002c0002t0001g0000 a0001c0001t0007g0000 a0002c0002t0001g0000	9	439	0.0205	-20	c.28 others(31): Show c.2856_*2875delAAGGAAGGAAGGAAGGAAGG	KRTAP9-3	ENSG00000204873.5	transcript	ENST00000411528.4	protein_coding		2383		chr17	TogoVar
KRTAP9-4_chr17_41244687_41255653	41247453	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02630.hp1 others(4): Show HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0000 a0002c0002t0007g0000 a0002c0002t0003g0000 a0002c0002t0007g0000	7	441	0.0159	-20	c.-22 others(31): Show c.-2267_-2248delGAAGGAAGGAAGGAAAGAAG	KRTAP9-4	ENSG00000241595.2	transcript	ENST00000334109.3	protein_coding		2233		chr17	TogoVar
KRTAP9-6_chr17_41260378_41270860	41269157	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	248	0.0040	-20	c.32 others(31): Show c.3298_*3317delAAAGAAAGAAAGAAAAAGAA	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		3298		chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41235836	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01358.hp2 others(4): Show HG01109.hp2 HG01255.hp2 HG01358.hp2 HG02886.hp1 HG03688.hp1 HG03704.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0000 a0002c0002t0002g0000 a0001c0001t0001g0000 a0002c0002t0002g0000	7	435	0.0161	-20	c.-22 others(31): Show c.-2215_-2196delAAGGAAGGAAGGAAGGAAGG	KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding		2162		chr17	TogoVar
KRTCAP3_chr2_27437381_27449297	27439995	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA21309.hp2 HG02559.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	286	0.0070	-20	c.-24 others(31): Show c.-2417_-2398delTTTTTTTTTTTTTTTTTTTT	KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding		2385		chr2	TogoVar
KSR2_chr12_117448012_117973990	117583405	GTGGATGG others(13): Show GTGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02809.hp1 others(3): Show HG01243.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0026 a0001c0001t0085 a0001c0001t0097 others(3): Show a0001c0001t0026 a0001c0001t0085 a0001c0001t0097 a0001c0003t0089 a0001c0003t0141 a0001c0014t0072	a0001c0001t0026g0002 a0001c0001t0085g0061 a0001c0001t0097g0132 others(3): Show a0001c0001t0026g0002 a0001c0001t0085g0061 a0001c0001t0097g0132 a0001c0003t0089g0177 a0001c0003t0141g0181 a0001c0014t0072g0064	6	196	0.0306	-20	c.117 others(39): Show c.1172-1066_1172-1047delTCCATCCATCCATCCATCCA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117606342	TTCCTTCC others(13): Show TTCCTTCCTCCCTCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02630.hp1 others(10): Show HG02055.hp2 HG02486.hp1 HG02630.hp1 HG02809.hp2 HG03041.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA18962.hp2 NA18975.hp1 NA19064.hp2 NA19066.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0020 a0001c0001t0042 others(10): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0042 a0001c0001t0064 a0001c0001t0099 a0001c0001t0111 a0001c0001t0127 a0001c0003t0021 a0001c0003t0060 a0001c0003t0140 a0001c0007t0023 a0001c0011t0098 a0001c0012t0073	a0001c0001t0001g0157 a0001c0001t0020g0149 a0001c0001t0042g0020 others(10): Show a0001c0001t0001g0157 a0001c0001t0020g0149 a0001c0001t0042g0020 a0001c0001t0064g0058 a0001c0001t0099g0131 a0001c0001t0111g0148 a0001c0001t0127g0120 a0001c0003t0021g0115 a0001c0003t0060g0045 a0001c0003t0140g0180 a0001c0007t0023g0126 a0001c0011t0098g0167 a0001c0012t0073g0071	13	196	0.0663	-20	c.117 others(41): Show c.1172-24003_1172-23984delGGGGAGGGAGGGAGGAAGGA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117606461	CCTCCTTC others(13): Show CCTCCTTCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp2 HG02717.hp2 others(4): Show HG01074.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0087 a0001c0001t0103 a0001c0001t0104 others(4): Show a0001c0001t0087 a0001c0001t0103 a0001c0001t0104 a0001c0003t0065 a0001c0003t0091 a0001c0003t0138 a0001c0006t0029	a0001c0001t0087g0060 a0001c0001t0103g0129 a0001c0001t0104g0176 others(4): Show a0001c0001t0087g0060 a0001c0001t0103g0129 a0001c0001t0104g0176 a0001c0003t0065g0054 a0001c0003t0091g0138 a0001c0003t0138g0134 a0001c0006t0029g0030	7	196	0.0357	-20	c.117 others(41): Show c.1172-24122_1172-24103delAGGAGGGAGGGAGGAAGGAG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117606481	TCTCCTTC others(13): Show TCTCCTTCCTTCCTCCATCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp2 HG01106.hp1 others(23): Show HG00438.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01993.hp2 HG02109.hp2 HG02280.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18943.hp2 NA19007.hp2 NA19043.hp1 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0001t0102 a0001c0001t0112 a0001c0001t0120 a0001c0001t0125 a0001c0001t0137 a0001c0001t0144 a0001c0003t0005 a0001c0003t0007 a0001c0003t0110 a0001c0003t0118 a0001c0003t0128	a0001c0001t0002g0114 a0001c0001t0003g0016 a0001c0001t0006g0122 others(23): Show a0001c0001t0002g0114 a0001c0001t0003g0016 a0001c0001t0006g0122 a0001c0001t0008g0103 a0001c0001t0009g0184 a0001c0001t0011g0022 a0001c0001t0018g0147 a0001c0001t0019g0117 a0001c0001t0019g0144 a0001c0001t0023g0107 a0001c0001t0027g0001 a0001c0001t0043g0011 a0001c0001t0046g0028 a0001c0001t0048g0039 a0001c0001t0102g0116 a0001c0001t0112g0108 a0001c0001t0120g0118 a0001c0001t0125g0174 a0001c0001t0137g0082 a0001c0001t0144g0189 a0001c0003t0005g0141 a0001c0003t0005g0145 a0001c0003t0007g0163 a0001c0003t0110g0130 a0001c0003t0118g0172 a0001c0003t0128g0125	26	196	0.1327	-20	c.117 others(41): Show c.1172-24142_1172-24123delGGGATGGAGGAAGGAAGGAG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117692449	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02257.hp1 HG02723.hp2 others(5): Show HG00609.hp2 HG02257.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0034 a0001c0001t0087 others(5): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0087 a0001c0001t0134 a0001c0002t0017 a0001c0003t0015 a0001c0003t0089 a0001c0003t0094	a0001c0001t0001g0152 a0001c0001t0034g0026 a0001c0001t0087g0060 others(5): Show a0001c0001t0001g0152 a0001c0001t0034g0026 a0001c0001t0087g0060 a0001c0001t0134g0121 a0001c0002t0017g0140 a0001c0003t0015g0059 a0001c0003t0089g0177 a0001c0003t0094g0169	8	196	0.0408	-20	c.987 others(39): Show c.987-24811_987-24792delATATATATATATATATATAT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117742512	ATGGATGG others(13): Show ATGGATGGATGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0074 a0001c0015t0018 a0001c0002t0074 a0001c0015t0018	a0001c0002t0074g0063 a0001c0015t0018g0142 a0001c0002t0074g0063 a0001c0015t0018g0142	2	196	0.0102	-20	c.986 others(39): Show c.986+18479_986+18498delCCCATCCATCCATCCATCCA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117815990	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02895.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0019 a0001c0001t0099 a0001c0001t0102 others(2): Show a0001c0001t0019 a0001c0001t0099 a0001c0001t0102 a0001c0001t0127 a0001c0008t0037	a0001c0001t0019g0117 a0001c0001t0099g0131 a0001c0001t0102g0116 others(2): Show a0001c0001t0019g0117 a0001c0001t0099g0131 a0001c0001t0102g0116 a0001c0001t0127g0120 a0001c0008t0037g0004	5	196	0.0255	-20	c.472 others(39): Show c.472+39418_472+39437delACACACACACACACACACAC	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55646460	TTTTCCTT others(13): Show TTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0111 a0009c0013t0001g0111	1	314	0.0032	-20	c.217 others(37): Show c.2173-445_2173-426delTCCTTTCCTTTCCTTTCCTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KYAT1_chr9_128827942_128886950	128865308	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19012.hp1 NA18994.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0240 a0001c0001t0002g0241	2	326	0.0061	-20	c.-7+ others(37): Show c.-7+16569_-7+16588delATATATATATATATATATAT	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KY_chr3_134594923_134656022	134612751	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18965.hp2 NA18968.hp1 others(5): Show NA18960.hp1 NA18965.hp2 NA18968.hp1 NA18981.hp1 NA18982.hp1 NA19012.hp2 NA19054.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0015 a0001c0002t0004 a0001c0002t0015	a0001c0002t0004g0004 a0001c0002t0004g0041 a0001c0002t0004g0044 others(2): Show a0001c0002t0004g0004 a0001c0002t0004g0041 a0001c0002t0004g0044 a0001c0002t0004g0087 a0001c0002t0015g0088	8	294	0.0272	-20	c.711 others(37): Show c.711-2388_711-2369delCACACACACACACACACACA	KY	ENSG00000174611.12	transcript	ENST00000423778.7	protein_coding	8/10			chr3	TogoVar
L1CAM_chrX_153856516_153891173	153860467	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02647.hp1 HG02818.hp1 others(1): Show HG00558.hp1 HG02647.hp1 HG02818.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0001c0001t0001 a0001c0001t0002 a0001c0014t0001	a0001c0001t0001g0102 a0001c0001t0002g0052 a0001c0001t0002g0053 others(1): Show a0001c0001t0001g0102 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0014t0001g0106	4	283	0.0141	-20	c.21 others(31): Show c.2176_*2195delGAAAGAAAGAAAGAAAGAAA	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		1048		chrX	TogoVar
L1TD1_chr1_62189849_62217328	62197397	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG01243.hp2 HG02572.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0017 a0006c0012t0017	a0006c0012t0017g0034 a0006c0012t0017g0035 a0006c0012t0017g0034 a0006c0012t0017g0035	2	414	0.0048	-20	c.-11 others(37): Show c.-111+886_-111+905delTATATATATATATATATATA	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205373	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02622.hp2 others(3): Show HG01891.hp1 HG02451.hp2 HG02622.hp2 HG02976.hp2 HG03209.hp1 NA20129.hp2	a0009 a0018 a0009 a0018	a0009c0009 a0018c0019 a0009c0009 a0018c0019	a0009c0009t0010 a0018c0019t0001 a0009c0009t0010 a0018c0019t0001	a0009c0009t0010g0100 a0009c0009t0010g0103 a0009c0009t0010g0104 others(3): Show a0009c0009t0010g0100 a0009c0009t0010g0103 a0009c0009t0010g0104 a0009c0009t0010g0105 a0009c0009t0010g0106 a0018c0019t0001g0036	6	414	0.0145	-20	c.-11 others(39): Show c.-110-1130_-110-1111delTTCTCTCTCTCTCTCTCTCT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L2HGDH_chr14_50237434_50317229	50267145	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02451.hp2 others(12): Show HG01261.hp1 HG01891.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0007 a0001c0001t0015 a0001c0001t0074 others(4): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0003c0005t0007 a0003c0005t0015	a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0093 others(12): Show a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0015g0096 a0001c0001t0015g0106 a0001c0001t0015g0107 a0001c0001t0074g0190 a0001c0001t0075g0191 a0001c0001t0076g0105 a0003c0005t0007g0214 a0003c0005t0007g0215 a0003c0005t0007g0216 a0003c0005t0015g0213	15	360	0.0417	-20	c.106 others(37): Show c.1064+588_1064+607delTAAATAAATAAATAAATAAA	L2HGDH	ENSG00000087299.12	transcript	ENST00000267436.9	protein_coding	8/9			chr14	TogoVar
L3MBTL3_chr6_130013581_130146438	130108220	GTTTTTTT others(13): Show GTTTTTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	298	0.0034	-20	c.188 others(39): Show c.1886+3656_1886+3675delGTTTTTTTTTTTTTTTTTTT	L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
L3MBTL4_chr18_5949717_6419911	5968697	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	94	0.0106	-20	c.161 others(37): Show c.1614+676_1614+695delTATTTTATTTTATTTTATTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	17/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5972887	CAGAAGAG others(13): Show CAGAAGAGAATAGAATAGAAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	94	0.0106	-20	c.144 others(39): Show c.1445-3345_1445-3326delATTCTATTCTATTCTCTTCT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5972892	GAGAATAG others(13): Show GAGAATAGAATAGAATAGAAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02080.hp2 NA19009.hp2 HG00639.hp1 HG02080.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0044 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0044	3	94	0.0319	-20	c.144 others(39): Show c.1445-3350_1445-3331delATTCTATTCTATTCTATTCT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6071696	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG02258.hp1 others(15): Show HG01081.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02809.hp1 HG02897.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG04184.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0002 a0001c0004t0006 a0002c0002t0001 a0004c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0047 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0004g0055 a0001c0001t0005g0046 a0001c0001t0006g0093 a0001c0001t0007g0016 a0001c0003t0002g0056 a0001c0003t0002g0058 a0001c0004t0006g0087 a0002c0002t0001g0013 a0002c0002t0001g0053 a0002c0002t0001g0064 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0090 a0004c0010t0002g0089	18	94	0.1915	-20	c.144 others(39): Show c.1444+9165_1444+9184delCTTCTTTCTTTCTTTCTTTC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6163288	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp1 NA19043.hp2 HG03209.hp1 HG03453.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0005 a0001c0003t0002 a0002c0002t0001 a0001c0001t0005 a0001c0003t0002 a0002c0002t0001	a0001c0001t0005g0046 a0001c0003t0002g0056 a0002c0002t0001g0013 a0001c0001t0005g0046 a0001c0003t0002g0056 a0002c0002t0001g0013	3	94	0.0319	-20	c.109 others(39): Show c.1096+8520_1096+8539delCCACACACACACACACACAC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	13/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6185960	CTTTATTT others(13): Show CTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp1 HG02922.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0052 a0001c0003t0005g0002 a0001c0001t0002g0052 a0001c0003t0005g0002	2	94	0.0213	-20	c.982 others(39): Show c.982-14038_982-14019delATAAAATAAAATAAAATAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6314036	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01243.hp2 others(15): Show HG00558.hp2 HG00673.hp2 HG01243.hp2 HG01981.hp2 HG02080.hp2 HG02257.hp2 HG02622.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03834.hp1 NA18975.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0072 a0001c0001t0003g0031 a0001c0001t0005g0094 a0001c0004t0006g0074 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0068 a0002c0002t0001g0078	18	94	0.1915	-20	c.-90 others(37): Show c.-90-2000_-90-1981delTATCTATCTATCTATCTATC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18			chr18	TogoVar
LAD1_chr1_201375833_201404324	201382516	TGAAATGA others(13): Show TGAAATGACTCCTCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp1 others(46): Show HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG01109.hp1 HG01358.hp1 HG01884.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG03209.hp1 HG03540.hp2 HG04204.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18949.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0002c0002 a0003c0026 others(2): Show a0001c0001 a0002c0002 a0003c0026 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0003c0026t0005 a0007c0007t0001 a0007c0007t0005 a0008c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0005g0144 others(23): Show a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0005g0144 a0002c0002t0001g0004 a0002c0002t0001g0015 a0002c0002t0001g0054 a0002c0002t0001g0066 a0002c0002t0001g0075 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0129 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0211 a0002c0002t0003g0099 a0002c0002t0004g0005 a0002c0002t0004g0055 a0002c0002t0005g0081 a0002c0002t0005g0104 a0002c0002t0005g0106 a0002c0002t0010g0098 a0003c0026t0005g0121 a0007c0007t0001g0214 a0007c0007t0005g0078 a0008c0010t0001g0171	49	432	0.1134	-20	c.147 others(37): Show c.1473+117_1473+136delGGGAGAGGAGGAGTCATTTC	LAD1	ENSG00000159166.15	transcript	ENST00000391967.7	protein_coding	8/9			chr1	TogoVar
LAIR2_chr19_54497831_54515687	54514555	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(69): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18959.hp2 NA18969.hp1 NA18974.hp1 NA18981.hp2 NA18987.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19085.hp1 NA19090.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0003c0003t0004 a0008c0007t0003	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0098 a0001c0001t0002g0157 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0005g0006 a0001c0001t0005g0064 a0002c0002t0001g0007 a0002c0002t0001g0090 a0002c0002t0003g0019 a0003c0003t0004g0015 a0003c0003t0004g0146 a0008c0007t0003g0120	72	475	0.1516	-20	c.39 others(31): Show c.3987_*4006delTTTTTTTTTTTTTTTTTTTT	LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding		3869		chr19	TogoVar
LAMA1_chr18_6936742_7122797	7012476	AATATTAT others(13): Show AATATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03239.hp2 HG02738.hp1 HG03239.hp2	a0007 a0026 a0007 a0026	a0007c0073 a0026c0072 a0007c0073 a0026c0072	a0007c0073t0007 a0026c0072t0002 a0007c0073t0007 a0026c0072t0002	a0007c0073t0007g0222 a0026c0072t0002g0040 a0007c0073t0007g0222 a0026c0072t0002g0040	2	278	0.0072	-20	c.336 others(37): Show c.3364-358_3364-339delAATAATAATAATAATAATAT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	23/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	128883817	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2	a0004 a0007 a0011 others(3): Show a0004 a0007 a0011 a0014 a0019 a0020	a0004c0002 a0007c0007 a0011c0008 others(3): Show a0004c0002 a0007c0007 a0011c0008 a0014c0010 a0019c0055 a0020c0023	a0004c0002t0002 a0007c0007t0002 a0011c0008t0002 others(3): Show a0004c0002t0002 a0007c0007t0002 a0011c0008t0002 a0014c0010t0003 a0019c0055t0002 a0020c0023t0002	a0004c0002t0002g0083 a0007c0007t0002g0081 a0011c0008t0002g0084 others(4): Show a0004c0002t0002g0083 a0007c0007t0002g0081 a0011c0008t0002g0084 a0011c0008t0002g0085 a0014c0010t0003g0082 a0019c0055t0002g0030 a0020c0023t0002g0086	7	88	0.0796	-20	c.112 others(35): Show c.112+462_112+481delCACACACACACACACACATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	128961318	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0005 a0030c0032t0005	a0030c0032t0005g0048 a0030c0032t0005g0048	1	88	0.0114	-20	c.112 others(39): Show c.112+77992_112+78011delATATATATATATATATATAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129205491	TATACACA others(13): Show TATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp2 HG03139.hp2 HG02257.hp1 HG03098.hp2 HG03139.hp2	a0007 a0010 a0007 a0010	a0007c0007 a0007c0017 a0010c0016 a0007c0007 a0007c0017 a0010c0016	a0007c0007t0002 a0007c0017t0007 a0010c0016t0002 a0007c0007t0002 a0007c0017t0007 a0010c0016t0002	a0007c0007t0002g0081 a0007c0017t0007g0025 a0010c0016t0002g0023 a0007c0007t0002g0081 a0007c0017t0007g0025 a0010c0016t0002g0023	3	88	0.0341	-20	c.178 others(41): Show c.1782+12640_1782+12659delTACACACACACACACACACA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129206102	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0059 a0004c0059	a0004c0059t0002 a0004c0059t0002	a0004c0059t0002g0078 a0004c0059t0002g0078	1	88	0.0114	-20	c.178 others(41): Show c.1782+13253_1782+13272delGAGGAAGGAAGGAAGGAAGG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129206106	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18906.hp1 NA18747.hp2 NA18906.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0002 a0001c0001t0001 a0007c0007t0002	a0001c0001t0001g0052 a0007c0007t0002g0009 a0001c0001t0001g0052 a0007c0007t0002g0009	2	88	0.0227	-20	c.178 others(41): Show c.1782+13295_1782+13314delGGAAGGAAGGAAGGAAGGAA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129208713	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG03710.hp2 HG00140.hp1 HG01074.hp1 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0012 a0004c0027 a0004c0030 a0001c0012 a0004c0027 a0004c0030	a0001c0012t0001 a0004c0027t0001 a0004c0030t0002 a0001c0012t0001 a0004c0027t0001 a0004c0030t0002	a0001c0012t0001g0074 a0004c0027t0001g0002 a0004c0030t0002g0041 a0001c0012t0001g0074 a0004c0027t0001g0002 a0004c0030t0002g0041	3	88	0.0341	-20	c.178 others(41): Show c.1782+15874_1782+15893delGAAGGAAGGAGGGAGGGAGG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129251060	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0012 a0012	a0012c0006 a0012c0006	a0012c0006t0002 a0012c0006t0002	a0012c0006t0002g0022 a0012c0006t0002g0022	1	88	0.0114	-20	c.188 others(37): Show c.1884+849_1884+868delCTCTCTCTCTCTCTCTATAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	13/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129251064	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0012 a0012	a0012c0006 a0012c0006	a0012c0006t0002 a0012c0006t0002	a0012c0006t0002g0037 a0012c0006t0002g0037	1	88	0.0114	-20	c.188 others(37): Show c.1884+853_1884+872delCTCTCTCTCTCTATATATAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	13/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129293689	GAGGTCCC others(13): Show GAGGTCCCAGGCTGAGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(50): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG01074.hp1 HG01074.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02055.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA19043.hp1 NA19060.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0013 a0015 a0017 a0018 a0020 a0023 a0024 a0025 a0026 a0028 a0029 a0033 a0034 a0035	a0001c0001 a0001c0011 a0001c0012 others(39): Show a0001c0001 a0001c0011 a0001c0012 a0001c0040 a0001c0067 a0002c0003 a0002c0004 a0002c0029 a0002c0035 a0002c0054 a0002c0056 a0003c0039 a0003c0041 a0003c0044 a0003c0061 a0004c0002 a0004c0020 a0004c0059 a0004c0063 a0005c0009 a0005c0015 a0005c0042 a0006c0046 a0006c0066 a0007c0007 a0007c0017 a0009c0043 a0013c0022 a0015c0065 a0015c0069 a0017c0038 a0018c0036 a0020c0023 a0023c0071 a0024c0014 a0025c0057 a0026c0037 a0028c0021 a0029c0019 a0033c0013 a0034c0045 a0035c0058	a0001c0001t0001 a0001c0011t0002 a0001c0012t0001 others(42): Show a0001c0001t0001 a0001c0011t0002 a0001c0012t0001 a0001c0040t0002 a0001c0067t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0007 a0002c0029t0002 a0002c0035t0006 a0002c0054t0004 a0002c0056t0003 a0003c0039t0001 a0003c0041t0004 a0003c0044t0003 a0003c0061t0003 a0004c0002t0001 a0004c0002t0002 a0004c0020t0008 a0004c0059t0002 a0004c0063t0001 a0005c0009t0001 a0005c0009t0002 a0005c0015t0001 a0005c0042t0002 a0006c0046t0001 a0006c0066t0001 a0007c0007t0002 a0007c0017t0007 a0009c0043t0002 a0013c0022t0003 a0015c0065t0004 a0015c0069t0004 a0017c0038t0001 a0018c0036t0003 a0020c0023t0002 a0023c0071t0005 a0024c0014t0005 a0025c0057t0003 a0026c0037t0001 a0028c0021t0005 a0029c0019t0002 a0033c0013t0002 a0034c0045t0002 a0035c0058t0009	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0056 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0011t0002g0003 a0001c0012t0001g0057 a0001c0012t0001g0074 a0001c0040t0002g0080 a0001c0067t0001g0073 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0029t0002g0064 a0002c0035t0006g0028 a0002c0054t0004g0049 a0002c0056t0003g0077 a0003c0039t0001g0046 a0003c0041t0004g0059 a0003c0044t0003g0020 a0003c0061t0003g0045 a0004c0002t0001g0065 a0004c0002t0002g0021 a0004c0002t0002g0083 a0004c0020t0008g0027 a0004c0059t0002g0078 a0004c0063t0001g0075 a0005c0009t0001g0019 a0005c0009t0002g0053 a0005c0015t0001g0061 a0005c0042t0002g0007 a0006c0046t0001g0066 a0006c0066t0001g0067 a0007c0007t0002g0009 a0007c0007t0002g0081 a0007c0017t0007g0025 a0009c0043t0002g0047 a0013c0022t0003g0017 a0015c0065t0004g0072 a0015c0069t0004g0068 a0017c0038t0001g0071 a0018c0036t0003g0088 a0020c0023t0002g0086 a0023c0071t0005g0050 a0024c0014t0005g0062 a0025c0057t0003g0043 a0026c0037t0001g0063 a0028c0021t0005g0014 a0029c0019t0002g0012 a0033c0013t0002g0031 a0034c0045t0002g0006 a0035c0058t0009g0004	53	88	0.6023	-20	c.285 others(39): Show c.2856+1970_2856+1989delAGGTCCCAGGCTGAGCTGCA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	20/64			chr6	TogoVar

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